Determination, mechanism and monitoring of knockdown resistance in permethrin-resistant human head lice, Pediculus humanus capitis
AuthorsClark, JM
JournalJOURNAL OF ASIA-PACIFIC ENTOMOLOGY
PubMed ID
Permethrin resistance has been reported worldwide and clinical failures to commercial pediculicides containing permethrin have likewise occurred. Permethrin resistance in head lice populations from the U.S. is widespread but is not yet uniform and the level of resistance is relatively low (∼4-8 fold). Permethrin-resistant lice are cross-resistant to pyrethrins, PBO-synergized ... More
Geographical mapping of a multifocal thyroid tumour using genetic alteration analysis & miRNA profiling
Background: Papillary thyroid carcinoma (PTC) frequently presents as multiple tumour-foci within a single thyroid gland or pluriform, with synchronous tumours comprising different histological variants, raising questions regarding its clonality. Among the genetic aberrations described in PTC, the BRAF V600E mutation and ret/PTC activation occur most commonly. Several studies have investigated ... More
Risk haplotype analysis for bovine paratuberculosis
Paratuberculosis (Johne's disease), caused by Mycobacterium avium subsp. paratuberculosis, is an important disease for bovines, although its genetic basis is poorly understood. In this study, three candidate genes were typed to study the associations between single nucleotide polymorphisms (SNPs) and paratuberculosis susceptibility (measured in a 1 or 0 form) at ... More
Risk haplotype analysis for bovine paratuberculosis
Paratuberculosis (Johne's disease), caused by Mycobacterium avium subsp. paratuberculosis, is an important disease for bovines, although its genetic basis is poorly understood. In this study, three candidate genes were typed to study the associations between single nucleotide polymorphisms (SNPs) and paratuberculosis susceptibility (measured in a 1 or 0 form) at ... More
Association of Polymorphisms in Genes of the Homologous Recombination DNA Repair Pathway and Thyroid Cancer Risk
Background: Ionizing radiation exposure has been pointed out as a risk factor for thyroid cancer. The double-strand breaks induced by this carcinogen are usually repaired by homologous recombination repair pathway, a pathway that includes several polymorphic genes. Since there is a scarcity of data about the involvement of these gene ... More
Lack of association between ABCB1, ABCG2, and ABCC2 genetic polymorphisms and multidrug resistance in partial epilepsy
ATP-binding cassette (ABC) transporters participate in drug disposition and response in various conditions, and many polymorphisms in ABC transporter genes have been recognized in association with altered transporter functions of various drugs. Studies on epilepsy have focused on the C3435T polymorphism of the ABCB1 gene, but other ABC transporters are ... More
Role of the HI haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
Background: The extended tau haplotype (HI) that covers the entire human microtubule-associated protein tau (MAPT) gene has been implicated in Parkinson's disease (PD). Nevertheless, controversial results, such as two studies in Greek populations with opposite effects, have been reported. Therefore, we set out to determine whether the HI haplotype and ... More
STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome
The proteins involved in homologous recombination are instrumental in the error-free repair of dsDNA breakages, and common germ-line variations in these genes are, therefore, potential candidates for involvement in breast cancer development and progression. We carried out a search for common, low-penetrance susceptibility alleles by tagging the common variation in ... More
Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel
Using a 52 SNP marker set previously developed for forensic analysis, a novel 49plex assay has been developed based on the Genplex typing system, a modification of SNPlex™ chemistry (both Applied Biosystems) using oligo-ligation of pre-amplified DNA and dye-labeled, mobility modified detection probes. This gives highly predictable electrophoretic mobility of ... More
TNF-α promoter polymorphisms in sudden infant death
AuthorsFerrante, L; Opdal, SH; Vege, A; Rognum, TO
JournalHUMAN IMMUNOLOGY
PubMed ID
Several studies indicate that the immune system is stimulated in sudden infant death syndrome (SIDS). Tumor necrosis factor-α (TNF-α) is a proinflammatory cytokine that strongly affects the cytokine cascade. A genetic variant associated with high production of TNF-a may thus be of significance in the pathogenesis of SIDS. The purpose ... More
The interleukin 1B-511 polymorphism is associated with the risk of developing restenosis after coronary stenting in Mexican patients
Inflammation is the primary response to vessel wall injury caused by stent placement in coronary arteries. Cytokines of the interleukin-1 family are central regulators in immunoinflammatory mechanisms. The objective of this study was to test for association between IL-1 family gene polymorphisms; and risk for restenosis after coronary stent placement. ... More
Caspase 7 influences susceptibility to rheumatoid arthritis.
OBJECTIVE: The aim of this study was to investigate the possible role of the caspase 7 (CASP7) in susceptibility to rheumatoid arthritis (RA). METHODS: Genotyping of three single nucleotide polymorphisms (SNPs) of the CASP7 gene: rs11593766 (G/ T), rs2227310 (C/G) and rs2227309 (G/A) was performed in a total of 906 ... More
Genetic Polymorphisms and the Risk of Accelerated Renal Function Decline in Women
'Background: Reduced glomerular filtration rate is an important predictor of cardiovascular disease and death. Genetic polymorphisms, particularly in genes involved in the renin-angiotensin system (RAS), may influence the rate of renal function decline. Methodology/Principal Findings: We examined the relation between specific single nucleotide polymorphisms (SNPs), including those in the RAS, ... More
Associations between decay-accelerating factor polymorphisms and allergic respiratory diseases
AuthorsKawai, T; Takeshita, S; Imoto, Y; Matsumoto, Y; Sakashita, M; Suzuki, D; Shibasaki, M; Tamari, M; Hirota, T; Arinami, T; Fujieda, S; Noguchi, E
Journal
PubMed ID
'Background Allergic diseases such as asthma and allergic rhinitis are major causes of morbidity in developed countries. The pathology underlying allergic respiratory diseases is considered to be IgE-mediated type I allergy characterized by mucosal inflammation that occurs in response to allergen exposure. They are common diseases involving a complex inheritance. ... More
Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI
'Background: The agouti related protein (AGRP) is an endogenous antagonist of the melanocortin 4 receptor and is one of the most potent orexigenic factors. The aim of the present study was to assess the genetic variability of AGRP gene and investigate whether the previously reported SNP rs5030980 and the rs11575892, ... More
Further genetic evidence implicates the vasopressin system in childhood-onset mood disorders
'Studies in both animals and humans advocate a role for the vasopressin (AVP) system in the aetiology of depressive symptoms. Attention has particularly focused on the role of AVP in the overactivation of the hypothalamic-pituitary-adrenal (HPA)-axis in mood disorders. Elevated AVP plasma levels have been found in mood disorder patients, ... More
Fibrinogen gamma gene 3′-end polymorphisms and risk of venous thromboembolism in the African-American and Caucasian population
Authorsde Willige, SU; Pyle, ME; Vos, HL; de Visser, MCH; Lally, C; Dowling, NF; Hooper, WC; Bertina, RM; Austin, H
Journal
PubMed ID
'Genetic determinants of venous thromboembolism (VTE) in the African-American population are poorly characterised. It was recently shown that fibrinogen gamma gene (FGG) polymorphisms 10034C>T and 9340T>C influence VTE risk in the Caucasian population. In the African-American population these polymorphisms are common, with allele frequencies above 25%. Here we evaluated whether ... More
Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population
'Background: Epidemiological studies suggested the chemopreventive role of higher calcium intake in colorectal carcinogenesis. We examined genetic polymorphisms that might influence calcium metabolism: lactase (LCT) gene 13910 C/T polymorphism causing lactose intolerance and calcium-sensing receptor (CaSR) gene A986S polymorphism as a responsible factor for the altered cellular calcium sensation. ... More
PPARGC1A Variation Associated With DNA Damage, Diabetes, and Cardiovascular Diseases: The Boston Puerto Rican Health Study.
AuthorsLai CQ; Tucker KL; Parnell LD; Adiconis X; Garcia-Bailo B; Griffith J; Meydani M; Ordovas JM
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PubMed ID
'OBJECTIVE-Individuals with type 2 diabetes exhibit higher DNA damage and increased risk of cardiovascular disease (CVD). However, mechanisms underlying the association between DNA damage and development of type 2 diabetes and CVD are not understood. We sought to link peroxisome proliferator-activated receptor-gamma coactivator-1 alpha (PPARGC1A), a master transcriptional regulator of ... More
Genetic variation in the transforming growth factor-β1 gene is associated with susceptibility to IgA nephropathy
AuthorsMai, TV; Lundberg, S; Gunnarsson, I; Wramner, L; Seddighzadeh, M; Hahn-Zoric, M; Fernstroem, A; Hanson, LA; Lieu, TD; Jacobson, SH; Padyukov, L
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PubMed ID
'Background. There is growing evidence of genetic risk for susceptibility to IgA nephropathy. Among several candidate genes related to immunological regulation in renal tissue, TGFB1 is known to be a contributor to proliferation and the development of fibrosis. Methods. We analysed several SNPs in a region of this gene using ... More
The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population
'The genes (ABCC8 and KCNJ11) have a key role in glucose-stimulated insulin secretion and thus have always been considered as excellent susceptibility candidates for involvement in type 2 diabetes. Common polymorphisms (KCNJ11 E23K and ABCC8 exon16-3t/c) in these genes have been reported to be associated with type 2 diabetes in ... More
Dose-dependent effect of the Val66Met polymorphism of the brain-derived neurotrophic factor gene on memory-related hippocampal activity
AuthorsHashimoto, R; Moriguchi, Y; Yamashita, F; Mori, T; Nemoto, K; Okada, T; Hori, H; Noguchi, H; Kunugi, H; Ohnishi, T
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PubMed ID
'Brain-derived neurotrophic factor (BDNF) plays a critical role in activity-dependent neuroplasticity underlying learning and memory in the hippocampus. Recent human studies have indicated that a common single nucleotide polymorphism of the BDNF gene, the Va166Met polymorphism, has impact on episodic memory, hippocampal morphology and memory-related hippocampal activity measured by functional ... More
Association of urokinase-type plasminogen activator with asthma and atopy.
AuthorsBegin P; Tremblay K; Daley D; Lemire M; Claveau S; Salesse C; Kacel S; Montpetit A; Becker A; Chan-Yeung M; Kozyrskyj AL; Hudson TJ; Laprise C
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PubMed ID
'RATIONALE: Urokinase plasminogen activator (uPA) interacts with its receptor on inflammatory and migrating cells to regulate extracellular matrix degradation, cell adhesion, and inflammatory cell activation. It is necessary for the development of an appropriate immune response and is involved in tissue remodeling. The PLAU gene codes for this enzyme, and ... More
Chromosomal aberrations in tire plant workers and interaction with polymorphisms of biotransformation and DNA repair genes
'We evaluated chromosomal aberrations in lymphocytes of 177 workers exposed to xenobiotics in a tire plant and in 172 controls, in relation to their genetic background. Nine polymorphisms in genes encoding biotransformation enzymes and nine polymorphisms in genes involved in main DNA repair pathways were investigated for possible modulation of ... More
Genetic Variation in KCNQ1 Associates With Fasting Glucose and β-Cell Function A Study of 3,734 Subjects Comprising Three Ethnicities Living in Singapore
AuthorsTan, JT; Nurbaya, S; Gardner, D; Ye, S; Tai, ES; Ng, DPK
Journal
PubMed ID
'OBJECTIVE-The potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) has been found through a genome-wide association study to be a strong candidate for conferring susceptibility to type 2 diabetes in East Asian and European populations. Our objective was to describe the association between polymorphisnis at the KCNQ1 locus with insulin ... More
Activated thrombin activatable fibrinolysis inhibitor levels are associated with the risk of cardiovascular death in patients with coronary artery disease: the AtheroGene study
'Background: Thrombin activatable fibrinolysis inhibitor (TAFI) attenuates fibrinolysis. Results on the association between TAFI levels and the risk of coronary artery disease (CAD) are inconsistent. Objectives: We investigated the association between TAFI levels and the risk of cardiovascular events in CAD. Patients/Methods: 1668 individuals with angiographically proven CAD at baseline ... More
Genetic variations in the serotonin 5-HT2(A) receptor gene (HTR2A) are associated with rheumatoid arthritis
AuthorsKling, A; Seddighzadeh, M; Aerlestig, L; Alfredsson, L; Rantapaeae-Dahlqvist, S; Padyukov, L
Journal
PubMed ID
'Objectives: To analyse the association between the genetic polymorphisms within the HTR2A gene for the serotonin receptor and rheumatoid arthritis (RA). Methods: HTR2A gene polymorphisms were analysed in patients with RA and controls from two study populations using PCR based restriction endonuclease mapping or TaqMan allelic discrimination with more ... More
The Type 2 Diabetes Associated Minor Allele of rs2237895 KCNQ1 Associates with Reduced Insulin Release Following an Oral Glucose Load
'Background: Polymorphisms in the potassium channel, voltage-gated, KQT-like subfamily, member 1 (KCNQ1) have recently been reported to associate with type 2 diabetes. The primary aim of the present study was to investigate the putative impact of these KCNQ1 polymorphisms (rs2283228, rs2237892, rs2237895, and rs2237897) on estimates of glucose stimulated insulin ... More
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test
'Background CYP3A4, CYP3A5 and CYP3A7 are hepatic enzymes that metabolize about 50% of drugs on the market, with a large overlap in their specificities. We investigated the genetic bases that contribute to the variation of CYP3A activity. Methods We phenotyped 251 individuals from two independent studies (182 patients treated with ... More
Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia
AuthorsBoo, NY; Wong, FL; Wang, MK; Othman, A
Journal
PubMed ID
'Background: The aim of the present study was to compare, in a case-control study, the prevalence of nucleotide 211 guanine to adenine (G→A) mutation of uridine diphosphoglucuronosyl transferase (UGT1A1) gene in Malaysian Chinese newborns with and without severe hyperbilirubinemia (total serum bilirubin >250 μmol/L during first 48 h of ... More
A pre-intervention study of malaria vector abundance in Rio Muni, Equatorial Guinea: Their role in malaria transmission and the incidence of insecticide resistance alleles
'Background: Following the success of the malaria control intervention on the island of Bioko, malaria control by the use of indoor residual spraying (IRS) and long-lasting insecticide-treated nets (LLITN) was extended to Rio Muni, on the mainland part of Equatorial Guinea. This manuscript reports on the malaria vectors present and ... More
Adaptive Variation Regulates the Expression of the Human SGK1 Gene in Response to Stress
AuthorsLuca, F; Kashyap, S; Southard, C; Zou, M; Witonsky, D; Di Rienzo, A; Conzen, SD
Journal
PubMed ID
'The Serum and Glucocorticoid-regulated Kinase1 (SGK1) gene is a target of the glucocorticoid receptor (GR) and is central to the stress response in many human tissues. Because environmental stress varies across habitats, we hypothesized that natural selection shaped the geographic distribution of genetic variants regulating the level of SGK1 expression ... More
A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function
AuthorsLiu, F; Ikram, MA; Janssens, ACJW; Schuur, M; de Koning, I; Isaacs, A; Struchalin, M; Uitterlinden, AG; den Dunnen, JT; Sleegers, K; Bettens, K; Van Broeckhoven, C; van Swieten, J; Hofman, A; Oostra, BA; Aulchenko, YS; Breteler, MMB; van Duijn, CM
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PubMed ID
'Several studies have investigated the role of the neuronal sortilin-related receptor (SORL1) gene in Alzheimer''s disease (AD), but findings have been inconsistent. We conducted a study of 7 single nucleotide polymorphisms (SNPs), rs668387, rs689021, rs641120, rs1699102, rs3824968, rs2282649, and rs1010159, in the SORL1 gene that were associated to AD in ... More
Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury.
AuthorsGao L; Grant A; Halder I; Brower R; Sevransky J; Maloney JP; Moss M; Shanholtz C; Yates CR; Meduri GU; Shriver MD; Ingersoll R; Scott AF; Beaty TH; Moitra J; Ma SF; Ye SQ; Barnes KC; Garcia JG
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PubMed ID
'The genetic basis of acute lung injury (ALI) is poorly understood. The myosin light chain kinase (MYLK) gene encodes the nonmuscle myosin light chain kinase isoform, a multifunctional protein involved in the inflammatory response (apoptosis, vascular permeability, leukocyte diapedesis). To examine MYLK as a novel candidate gene in sepsis-associated ALI, ... More
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects
'A recent study reported an association between the brain natriuretic peptide (BNP) promoter T-381C polymorphism (rs198389) and protection against type 2 diabetes (T2D). As replication in several studies is mandatory to confirm genetic results, we analyzed the T-381C polymorphism in seven independent case-control cohorts and in 291 T2D-enriched pedigrees totalling ... More
Population-specific functional variant of the TPH2 gene 2755C>A polymorphism contributes risk association to major depression and anxiety in Chinese peripartum women
'The rate-limiting enzyme of serotonin biosynthesis, tryptophan hydroxylase 2 (TPH2), is one of the most promising candidate genes for psychiatric disorders. Although evidence strongly suggests that the TPH2 is significant in the etiology of major depression and anxiety disorder, whether it also contributes to the etiology of peripartum major depression ... More
β(2)-Adrenergic Receptor Promoter Haplotype Influences Spirometric Response During an Acute Asthma Exacerbation
AuthorsMoore, PE; Williams, SM; Gebretsadik, T; Jiang, L; Minton, PL; Shintani, A; Phillips, JA III; Dawson, EP; Hartert, TV
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PubMed ID
'Genetic variants in the β(2)-adrenergic receptor (ADRB2) coding block have been associated with different parameters of asthma severity, but there is no consensus on which variants are most important. Our objective was to determine whether the genetic variants in the 5''- or 3''-flanking regions of ADRB2 impact the response to ... More
Response to prednisone in relation to NR3C1 intron B polymorphisms in childhood nephrotic syndrome
AuthorsZalewski, G; Wasilewska, A; Zoch-Zwierz, W; Chyczewski, L
Journal
PubMed ID
'The variation in time required to obtain cessation of proteinuria in children with nephrotic syndrome (NS) represents one aspect of the variations shown by these children in response to glucocorticoid (GC) treatment. Polymorphism of the GC receptor gene (NR3C1) has been postulated as one factor that would partially explain differences ... More
Polymorphism of cytosolic serine hydroxymethyltransferase, estrogen and breast cancer risk among Chinese women in Taiwan
'Cytosolic serine hydroxymethyltransferase (cSHMT) is key to intersection of folate-metabolic pathway, participating in the pyrimidine synthesis for DNA repair. Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a ... More
ERCC1 genotype and phenotype in epithelial ovarian cancer identify patients likely to benefit from paclitaxel treatment in addition to platinum-based therapy.
AuthorsSmith S; Su D; Rigault de la Longrais IA; Schwartz P; Puopolo M; Rutherford TJ; Mor G; Yu H; Katsaros D
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PubMed ID
'PURPOSE: To investigate the effect of excision repair cross-complementation group 1 (ERCC1) on treatment response and survival of patients treated with platinum chemotherapy with or without paclitaxel. PATIENTS AND METHODS: Tumor samples from epithelial ovarian cancer patients were evaluated for ERCC1 mRNA expression and a single nucleotide polymorphism at codon ... More
Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan
'The clinical course of chronic hepatitis C virus (HCV) infection is strongly associated with insulin resistance and obesity. The K121Q polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP)-1 gene and the rs7566605 genotype located near insulin-induced gene 2 have been shown to be associated with insulin resistance and obesity. This study examined ... More
Association of the 163A/G and 1181 G/C osteoprotegerin polymorphism with bone mineral density
'The aim of the study was to investigate the distribution of 163 A/G osteoprotegerin gene promoter and 1181 G/C osteoprotegerin exon 1 polymorphisms in a group of women with different hormonal status and to analyze their relationship with BMD. Osteoprotegerin polymorphisms and BMD were analyzed in 332 women (69 premenopausal ... More
IL6 gene-wide haplotype is associated with susceptibility to acute lung injury
'Experimental and clinical studies support the key role of interleukin 6 (IL-6), a potent proinflammatory cytokine, in the development of acute lung injury (ALI). Plasma IL-6 levels are influenced mainly by genetic determinants, and a -174G/C polymorphism of the gene has been recently associated with susceptibility to ALI. Here we ... More
Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sample
AuthorsCabanero, M; Laje, G; Detera-Wadleigh, S; McMahon, FJ
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PubMed ID
'A recent study has reported a significant association of variants in phosphodiesterase (PDE) genes with antidepressant treatment outcome in a Mexican American sample. We set out to investigate these findings in a large sample of patients from the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study. STAR*D is a longitudinal ... More
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS
AuthorsWills, AM; Cronin, S; Slowik, A; Kasperaviciute, D; Van Es, MA; Morahan, JM; Valdmanis, PN; Meininger, V; Melki, J; Shaw, CE; Rouleau, GA; Fisher, EMC; Shaw, PJ; Morrison, KE; Pamphlett, R; Van den Berg, LH; Figlewicz, DA; Andersen, PM; Al-Chalabi, A; Har
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PubMed ID
'Background: Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). However, several other large studies, including five genome-wide association studies, have not duplicated this finding. Methods: We conducted a meta-analysis of 10 published studies and one unpublished ... More
Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry
'Background: A recent genome-wide association (GWA) study of U. S. Caucasians suggested that eight single nucleotide polymorphisms (SNPs) in CTNNBL1 are associated with obesity and increased fat mass. We analysed the respective SNPs in data from our previously published GWA for early onset obesity (case-control design), in GWA data from ... More
COMT Val158Met and cognition: main effects and interaction with educational attainment
AuthorsEnoch, MA; Waheed, JF; Harris, CR; Albaugh, B; Goldman, D
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PubMed ID
'Studies in children have shown that the genetic influence on cognition is positively correlated with socioeconomic status. Catechol-O-methyltransferase (COMT) Val158Met, a common, functional polymorphism, has been implicated in executive cognition and working memory. Imaging studies have shown that the variant Met allele is associated with more efficient prefrontal cortical processing ... More
Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain
AuthorsGurwitz, D; Rodriguez-Antona, C; Payne, K; Newman, W; Gisbert, JP; de Mesa, EG; Ibarreta, D
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PubMed ID
'Thiopurine S-methyltransferase (TPMT) is the rate-limiting step in the conversion of thiopurine drugs including azathioprine (AZA) to inactive metabolites. Heritable deficiency of TPMT activity increases risk for adverse events, most notably, myelosuppression leading to leukopenia and neutropenic sepsis. The reported European Commission study was undertaken to identify current evidence for ... More
Hsp70 inhibits aminoglycoside-induced hair cell death and is necessary for the protective effect of heat shock
'Sensory hair cells of the inner ear are sensitive to death from aging, noise trauma, and ototoxic drugs. Ototoxic drugs include the aminoglycoside antibiotics and the antineoplastic agent cisplatin. Exposure to aminoglycosides results in hair cell death that is mediated by specific apoptotic proteins, including c-Jun N-terminal kinase (JNK) and ... More
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
'Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive neurodegenerative disease affecting ∼10% of early-onset dementia patients. Here we expand the role of GRN in FTLD-U and demonstrate that a common genetic variant (rs5848), located in the 3''-untranslated region (UTR) of ... More
Association study of GSK3 gene polymorphisms with schizophrenia and clozapine response
'Rationale A number of human and animal studies implicate GSK3 in the pathophysiology and genetics of schizophrenia. In general, the data suggest that phosphorylation levels of GSK3β are reduced in schizophrenia, resulting in increased GSK3β activity. Since GSK3β regulation is altered in schizophrenia, polymorphic variation in this gene may affect ... More
Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
'Objectives - Previous studies have found associations between Parkinson''s disease (PD) and polymorphisms located within both the alpha-synuclein gene (SNCA) promoter and other gene regions. Our aim was to study SNCA gene markers in a closely matched Norwegian PD population to examine the genetic relationship between different polymorphisms associated with ... More
Genome-wide association study identifies three loci associated with melanoma risk
'We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases ... More
The association of ABCB1 polymorphisms and elevated serum digitoxin concentrations in geriatric patients
'Objective Digitoxin is a known substrate of the efflux pump P-glycoprotein (gene name: ABCB1). P-glycoprotein expression was shown to be modulated by single nucleotide polymorphisms in the ABCB1 gene, but it remains unclear whether these polymorphisms influence digitoxin blood levels. Our objective was to examine the association of ABCB1 C3435T ... More
Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals.
AuthorsQi L; Zhang C; van Dam RM; Hu FB
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PubMed ID
'CONTEXT: IL-6 (IL6) is an immune-modulating cytokine associated with obesity in humans. OBJECTIVE: Our objective was to assess the associations between the genetic variability of IL6 gene and adiposity and long-term changes. DESIGN AND SUBJECTS: We determined the linkage disequilibrium-tagging single-nucleotide polymorphisms of IL6 gene in 2255 healthy women and ... More
Manganese Superoxide Dismutase and Chemokine Genes Polymorphisms in Chinese Patients with Anterior Uveitis
'PURPOSE. To investigate the association of single-nucleotide polymorphisms ( SNPs) in the manganese superoxide dismutase (MnSOD) and two chemokine genes (CCL2 and CCL5) in patients with anterior uveitis (AU). METHODS. Seventy-nine Chinese patients with acute AU were recruited, and genotyping of four SNPs including MnSOD 47, CCL2 -2518, CCL2 ... More
Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma
'In this population-based case-control study with 325 Caucasian renal cell carcinoma (RCC) patients and 335 controls matched to cases by age, gender and county of residence, we evaluated the associations between 13 potential functional polymorphisms in nine major nucleotide excision repair (NER) genes and RCC risk. In individual single nucleotide ... More
Association of the CPT1B Gene with Skeletal Muscle Fat Infiltration in Afro-Caribbean Men
'Skeletal muscle fat is greater in African ancestry individuals compared with whites, is associated with diabetes, and is a heritable polygenic trait. However, specific genetic factors contributing to skeletal muscle fat in humans remain to be defined. Muscle carnitine palmitoyltransferase-1B (CPT1B) is a key enzyme in the regulation of skeletal ... More
Comparison of linkage disequilibrium patterns and haplotype structure of eight single nucleotide polymorphisms across the CYP1A2 gene between the Korean, and other populations registered in the International HapMap database
AuthorsWoo, SW; Kang, TS; Park, HJ; Lee, JE; Roh, J
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PubMed ID
'Background and objective: The aim of this study was to determine the frequencies of CYP1A2 gene polymorphisms, analyze Linkage disequilibrium (LD) blocks and haplotypes in a Korean population, and compare them with those in African, European, Japanese and Chinese populations. Methods: We searched across diverse studies conducted in ... More
Gene-environment association of an ITGB2 sequence variant with obesity in ethnic Japanese
'Mice lacking the integrin αMβ2 ( Mac-1, CD11b/CD18) develop an obese phenotype on western diet rich in fat. However, no association has been found between variations in the human genes encoding the integrin αMβ2 and obesity. this study was aimed to investigate the association between a single-nucleotide polymorphism (sNP) ( ... More
Human SA gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women: A pilot study
'Objective: The purpose of the study is to evaluate the associations between polymorphisms of the human SA (SAN) gene, an acyl-CoA synthetase gene. with dyslipidemia and phenotypes of the insulin resistance syndrome in postmenopausal women. Methods: One hundred and forty-two postmenopausal women were recruited for the study. Each subject ... More
Functional and genetic evidence that the Mal/TIRAP allele variant 180L has been selected by providing protection against septic shock
'Adequate responses by our innate immune system toward invading pathogens were of vital importance for surviving infections, especially before the antibiotic era. Recently, a polymorphism in Mal (Ser180Leu, TIRAP rs8177374), an important adaptor protein downstream of the Toll-like receptor (TLR) 2 and 4 pathways, has been described to provide protection ... More
Association and expression study of synapsin III and schizophrenia
'The synapsin III gene, SYN3, which belongs to the family of synaptic vesicle-associated proteins, has been implicated in the modulation of neurotransmitter release and in synaptogenesis, suggesting a potential role in several neuropsychiatric diseases. The human SYN3 gene is located on chromosome 22q12-13, a candidate region implicated in previous linkage ... More
Multiple loci with different cancer specificities within the 8q24 gene desert
'Recent studies based on genome-wide association, linkage, and admixture scan analysis have reported associations of various genetic variants in 8q24 with susceptibility to breast, prostate, and colorectal cancer. This locus lies within a 1.18-Mb region that contains no known genes but is bounded at its centromeric end by FAM84B and ... More
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study
'Filaggrin (FLG) plays an important role in the barrier function of the skin. Several loss-of-function mutations in the FLG gene have been identified in patients with ichthyosis vulgaris, and these null mutations are associated with atopic dermatitis (AD) development. In this study, we examined tag single nucleotide polymorphisms (tSNPs) and ... More
ErbB3 mRNA expression correlated with specitc clinicopathologic features of Japanese lung cancers
AuthorsKawano, O; Sasaki, H; Endo, K; Suzuki, E; Haneda, H; Yukiue, H; Kobayashi, Y; Yano, M; Fujii, Y
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PubMed ID
'Background. ErbB3 is a member of the epidermal growth factor receptor (EGFR) family of tyrosine kinase. A previous report has suggested that overexpression of ErbB3 protein was associated with lung cancer recurrence. Other reports suggested that high ErbB3 protein expression was associated with shorter survival in advanced non-small-cell lung carcinomas ... More
Novel Roles of GATA1 in Regulation of Angiogenic Factor AGGF1 and Endothelial Cell Function
'AGGF1 is an angiogenic factor, and its deregulation is associated with a vascular malformation consistent with Klippel-Trenaunay syndrome (KTS). This study defines the molecular mechanism for transcriptional regulation of AGGF1 expression. Transcription of AGGF1 starts at two nearby sites, -367 and -364 bp upstream of the translation start site. Analyses ... More
The Role of KRAS rs61764370 in Invasive Epithelial Ovarian Cancer: Implications for Clinical Testing.
AuthorsPharoah PD, Palmieri RT, Ramus SJ, Gayther SA, Andrulis IL, Anton-Culver H, Antonenkova N, Antoniou AC, Goldgar D, Beattie MS, et al.
JournalClin Cancer Res
PubMed ID21385923
'PURPOSE: An assay for the single-nucleotide polymorphism (SNP), rs61764370, has recently been commercially marketed as a clinical test to aid ovarian cancer risk evaluation in women with family histories of the disease. rs67164370 is in a 3''-UTR miRNA binding site of the KRAS oncogene and is a candidate for epithelial ... More
Breast cancer: a candidate gene approach across the estrogen metabolic pathway
'Polymorphisms within the estrogen metabolic pathway are prime candidates for a possible association with breast cancer risk. We investigated 11 genes encoding key proteins of this pathway for their potential contribution to breast cancer risk. Of these CYP17A1, CYP19A1, EPHX1, HSD17B1, SRD5A2, and PPARG2 participate in biosynthesis, CYP1A1, CYP1B1, COMT, ... More
Mitochondrial DNA haplogroups influence AIDS progression
'Objective: Mitochondrial function plays a role in both AIDS progression and HAART toxicity; therefore, we sought to determine whether mitochondrial DNA variation revealed novel AIDS restriction genes, particularly as mitochondrial DNA single-nucleotide polymorphisms are known to influence regulation of oxidative phosphorylation, reactive oxygen species production, and apoptosis. Design: This is ... More
Vascular Endothelial Growth Factor Polymorphisms -1154 G/A and -460 C/T Are Not Associated with VEGF mRNA Expression and Susceptibility to Sporadic Colon Cancer
AuthorsCacev, T; Loncar, B; Seiwerth, S; Spaventi, S; Kapitanovic, S
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PubMed ID
'Vascular endothelial growth factor (VEGF) is important mediator of angiogenesis, and its expression in colorectal tumors is related to tumor progression. VEGF expression has been detected in normal mucosa, primary colon cancers, and metastatic tumors, and patients with low VEGF expression have a better survival rate. In addition, anti-VEGF monoclonal ... More
Age-related macular degeneration: a perspective on genetic studies
AuthorsPatel, N; Adewoyin, T; Chong, NV
Journal
PubMed ID
'Aim Age-related macular degeneration (AMD) is a common macular disease in the developed world and recent studies have shown that specific genes may be associated with it and may contribute to a higher risk of developing AMD. Objective Our objective was to review systematically recent publications related to the ... More
Autoantibodies to zinc transporter 8 and SLC30A8 genotype stratify type 1 diabetes risk
'Our aim was to determine the relationships between autoantibodies to zinc transporter 8 (ZnT8), genotypes of the ZnT8-encoding gene SLC30A8 and type 1 diabetes risk. ZnT8 autoantibodies (ZnT8A) were measured in sera of 1,633 children with a first-degree family history of type 1 diabetes and who were prospectively followed from ... More
Evaluation of SPATA1-associated markers for stallion fertility
'Stallion fertility is an economically important trait because the use of artificial insemination is increasing in the horse industry and superior sires are used more intensely. Molecular genetic markers may be useful as early indicators for a stallion''s fertility and genetic improvement programmes. The testis-specific SPATA1 protein is involved in ... More
Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPARγ and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes
'Background. Diabetic nephropathy (DN) is a common microvascular complication of diabetes. In this study, we aimed to explore both primary effects of single-locus and multilocus interactions to test the hypothesis that the type 2 diabetes (T2D) genes may contribute to the aetiology of DN in T2D independently and/or through complex ... More
Interleukin-10 is associated with resistance to febrile seizures: Genetic association and experimental animal studies
AuthorsIshizaki, Y; Kira, R; Fukuda, M; Torisu, H; Sakai, Y; Sanefuji, M; Yukaya, N; Hara, T
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PubMed ID
'Febrile seizures (FS) are the most common form of childhood convulsions. Many reports have shown that a proinflammatory cytokine, interleukin-1 (IL-1) β, may have a facilitatory effect on the development of FS. We have previously shown that the IL1B -511C/T single nucleotide polymorphism (SNP) is associated with simple FS of ... More
A functional promoter variant in IL12B predisposes to cerebral malaria
'The role of the Th1 pathway in the pathogenesis of severe malaria is unclear. We recently reported that a polymorphism with increasing IFNG transcription is associated with protection against cerebral malaria (CM). Interleukin-12 is required for Th1 cell differentiation, which is characterized by the production of interferon-γ. We investigated 21 ... More
The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study
AuthorsJunyent, M; Tucker, KL; Smith, CE; Garcia-Rios, A; Mattei, J; Lai, CQ; Parnell, LD; Ordovas, JM
Journal
PubMed ID
'Low HDL-cholesterol (HDL-C) is associated with an increased risk for atherosclerosis, and concentrations are modulated by genetic factors and environmental factors such as smoking. Our objective was to assess whether the association of common single-nucleotide polymorphisms (SNPs) at ABCG5/G8 (i18429G > A, i7892T > C, Gln604GluC > G, 5U145A>C, Tyr54CysA>G, ... More
Population pharmacokinetic and pharmacogenetic analysis of 6-mercaptopurine in paediatric patients with acute lymphoblastic leukaemia
'WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • The cytotoxic effects of 6-mercaptopurine (6-MP) were found to be due to drug-derived intracellular metabolites (mainly 6-thioguanine nucleotides and to some extent 6-methylmercaptopurine nucleotides) rather than the drug itself. • Current empirical dosing methods for oral 6-MP result in highly variable drug ... More
Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease
'Up to 30% of adult patients with sickle cell disease (SCD) will develop pulmonary hypertension (pHTN), a complication associated with significant morbidity and mortality. To identify genetic factors that contribute to risk for pHTN in SCD, we performed association analysis with 297 single nucleotide polymorphisms (SNPs) in 49 candidate genes ... More
Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression.
AuthorsMoliterno AR; Williams DM; Rogers O; Spivak JL
Journal
PubMed ID
'An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET). JAK2 is also a chaperone for Mpl and responsible for its cell-surface expression. We observed a reciprocal relationship between neutrophil JAK2 V617F allele percentage and platelet ... More
Genetic Evidence Implicating Multiple Genes in the MET Receptor Tyrosine Kinase Pathway in Autism Spectrum Disorder
AuthorsCampbell, DB; Li, C; Sutcliffe, JS; Persico, AM; Levitt, P
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PubMed ID
'A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate ... More
Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease
AuthorsHinohara, K; Nakajima, T; Yasunami, M; Houda, S; Sasaoka, T; Yamamoto, K; Lee, BS; Shibata, H; Tanaka-Takahashi, Y; Takahashi, M; Arimura, T; Sato, A; Naruse, T; Ban, J; Inoko, H; Yamada, Y; Sawabe, M; Park, JE; Izumi, T; Kimura, A
Journal
PubMed ID
'Coronary artery disease (CAD) is based on the atherosclerosis of coronary artery and may manifest with myocardial infarction or angina pectoris. Although it is widely accepted that genetic factors are linked to CAD and several disease-related genes have been reported, only a few could be replicated suggesting that there might ... More
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
'Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk(1). We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and ... More
Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies
'Nonrandom X-chromosome inactivation (XCI), also known as skewing, has been documented in the blood cells of a significant proportion of normal aging women by the use of methylation-based assays at the polymorphic human androgen receptor locus (HUMARA). Recent data obtained with a new transcription-based XCI determination method, termed suppressive polymerase ... More
Activation of the Complement System in Human Nonalcoholic Fatty Liver Disease
'Activation of the innate immune system plays a major role in nonalcoholic fatty liver disease (NAFLD). The complement system is an important component of innate immunity that recognizes danger signals such as tissue injury. We aimed to determine whether activation of the complement system occurs in NAFLD, to identify initiating ... More
Genetic polymorphisms in the cytokine genes and risk of hepatocellular carcinoma in low-risk non-Asians of USA
AuthorsOgnjanovic, S; Yuan, JM; Chaptman, AK; Fan, YH; Yu, MC
Journal
PubMed ID
'Polymorphisms in cytokine genes responsible for inflammatory and immune responses are associated with risk of hepatocellular carcinoma (HCC) in high-risk Chinese population. Similar data in low-risk populations are lacking. A population-based case-control study of HCC was conducted including 120 HCC patients and 230 matched control subjects of non-Asian residents in ... More
Recombinant Canine Coronaviruses Related to Transmissible Gastroenteritis Virus of Swine Are Circulating in Dogs
AuthorsDecaro, N; Mari, V; Campolo, M; Lorusso, A; Camero, M; Elia, G; Martella, V; Cordioli, P; Enjuanes, L; Buonavoglia, C
Journal
PubMed ID
'Four canine coronavirus type II (CCoV-II) strains were identified in the guts and internal organs of pups which had died of acute gastroenteritis. The CCoV-II strains were strictly related to porcine transmissible gastroenteritis virus (TGEV) in the N-terminal domain of the spike protein, whereas in the other parts of the ... More
Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients
'Recently, there has been increasing evidence that a non-synonymous exchange (Gly307Ser) in the gene for CD226 is linked to several autoimmune diseases including type 1 diabetes, multiple sclerosis ( MS), rheumatoid arthritis and Grave''s disease. Here we present evidence that this polymorphism also predisposes to Wegener''s granulomatosis (WG), an autoimmune ... More
Different effects of SLCO1B1 polymorphism on the pharmacokinetics and pharmacodynamics of repaglinide and nateglinide
AuthorsKalliokoski, A; Neuvonen, M; Neuvornen, PJ; Niemi, M
Journal
PubMed ID
'Thirty-two healthy volunteers with different SLCO1B1 genotypes ingested a 0.5-mg dose of repaglinide and 60-mg dose of nateglinide with a washout period of 1 week. Participants with SLCO1B1 c.521CC genotype (n = 4) had a 59% (P = 0.001) or 72% (P < 0.001) greater mean area under the plasma ... More
Associations Between Single Nucleotide Polymorphisms on Chromosome 9p21 and Risk of Coronary Heart Disease in Chinese Han Population
'Objectives-We aimed to determine whether the single nucleotide polymorphisms ( SNPs) on chromosome 9p21 were associated with coronary heart disease (CHD) in a Chinese Han population. Methods and Results-We determined the genotypes of rs2383206 and rs2383207 on chromosome 9p21 in 1360 CHD patients and 1360 age-and sex-frequency-matched controls from ... More
Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis
'Susceptibility to osteoarthritis, the most common human arthritis, is known to be influenced by genetic factors(1,2). Through a genome-wide association study using B100,000 SNPs, we have identified a previously unknown gene on chromosome 3p24.3, DVWA, which is associated with susceptibility to knee osteoarthritis. Expressed specifically in cartilage, DVWA encodes a ... More
Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease
'Background: The Duffy glycoprotein (Fy) on red blood cells (RBCs) has been hypothesized to promote clearance of inflammatory cytokines, which may play a role in the pathogenesis of vasoocclusion in sickle cell disease (SCD). Persons with the African-type Fy(a-b-) phenotype-whose RBCs lack expression of Duffy-may less efficiently clear inflammatory cytokines. ... More
Evaluation of a variant in the transcription factor 7-like 2 (TCF7L2) gene and prostate cancer risk in a population-based study
AuthorsAgalliu, I; Suuriniemi, M; Prokunina-Olsson, L; Johanneson, B; Collins, FS; Stanford, JL; Ostrander, EA
Journal
PubMed ID
'BACKGROUND. Transcription factor 7-like 2 (TCF7L2) is a high mobility group-box containing protein that is a critical member of the Wnt/β-catenin canonical signaling pathway. In addition to its recently recognized role in diabetes, aberrant TCF7L2 expression has been implicated in cancer through regulation of cell proliferation and apoptosis by c-MYC ... More
Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants
AuthorsPeeters, A; Beckers, S; Verrijken, A; Mertens, I; Van Gaal, L; Van Hul, W
Journal
PubMed ID
'Previous studies have suggested that ENPP1, INSIG2, and PLIN may be linked with a higher risk for obesity or with increased phenotypic measures of obesity. We selected polymorphisms in these candidate genes based on their prior associations with obesity risk or obesity parameters. K121Q (rs1044498) in ENPP1, rs7566605 in INSIG2, ... More
GENETICS OF DROUGHT ADAPTATION IN ARABIDOPSIS THALIANA II. QTL ANALYSIS OF A NEW MAPPING POPULATION, KAS-1 x TSU-1
AuthorsMcKay, JK; Richards, JH; Nemali, KS; Sen, S; Mitchell-Olds, T; Boles, S; Stahl, EA; Wayne, T; Juenger, TE
Journal
PubMed ID
'Despite compelling evidence that adaptation to local climate is common in plant populations, little is known about the evolutionary genetics of traits that contribute to climatic adaptation. A screen of natural accessions of Arabidopsis thaliana revealed Tsu-1 and Kas-1 to be opposite extremes for water-use efficiency and climate at collection ... More
Obesity and cancer: Mendelian randomization approach utilizing the FTO genotype
'Methods To avoid these biases we used a Mendelian randomization approach incorporating an analysis of variants in the FTO gene that are strongly associated with BMI levels among 7000 subjects from a study of lung, kidney and upper-aerodigestive cancer. Results The FTO A allele which is linked with increased BMI ... More
Association between haplotypes of manganese superoxide dismutase (SOD2), smoking, and lung cancer risk
'Tobacco smoke contains high concentrations of reactive oxygen species (ROS) that can damage DNA, proteins, and lipids. Manganese superoxide dismutase (SOD2) catalyzes the dismutation of superoxide radicals into hydrogen peroxide and protects against oxidative stress in lung tissues. Three tagSNPs were identified in one block of high linkage disequilibrium that ... More
Systemic Complement Activation in Age-Related Macular Degeneration
'Dysregulation of the alternative pathway (AP) of complement cascade has been implicated in the pathogenesis of age-related macular degeneration (AMD), the leading cause of blindness in the elderly. To further test the hypothesis that defective control of complement activation underlies AMD, parameters of complement activation in blood plasma were determined ... More