• We investigated whether these polymorphisms in the OPA1 gene were associated with NTG in Korea. (nih.gov)
  • Frequencies of haplotypes and haplotypes groups were also analyzed to assess the combined effect of two polymorphisms. (nih.gov)
  • These results do not support the results in Caucasians and indicate that ethnic differences may exist in the association between polymorphisms in the OPA1 gene and NTG. (nih.gov)
  • Selective, complete or partial, loss of OATP1B1 function due to polymorphisms in the SLCO1B1 gene is associated with altered PK of substrate drugs. (solvobiotech.com)
  • To determine the effects of cytokine gene polymorphisms in the pathogenesis of T1D, high risk interferon-gamma (IFN-γ), interleukin-6 (IL-6) as well as transforming growth factor β (TGF-β) gene polymorphisms were considered in HLA DRDQ fixed patients with T1D. (medcraveonline.com)
  • A number of cytokine gene polymorphisms have been shown to be important for the development of T1D both at the level of the immune system and at the level of the target β-cells. (medcraveonline.com)
  • Based on the hypothesis that genes which regulate interferon gamma may influence tuberculosis susceptibility, we investigated polymorphisms in eight candidate genes. (biomedcentral.com)
  • Fifty-four polymorphisms in eight candidate genes were genotyped in over 800 tuberculosis cases and healthy controls in a population-based case-control association study in a South African population. (biomedcentral.com)
  • Single polymorphisms as well as haplotypes of the variants were tested for association with TB using statistical analyses. (biomedcentral.com)
  • Polymorphisms have been previously identified for many of the UGT genes, and several recent studies have examined their potential role in tobacco carcinogenesis and in risk for tobacco-induced cancers. (aspetjournals.org)
  • To our knowledge, angiotensin converting enzyme ( ACE ) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. (molvis.org)
  • Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
  • 2010). An association study of DRD2 gene polymorphisms with schizophrenia in a Chinese Han population. (geneticsmr.com)
  • Single nucleotide polymorphisms (SNPs) and haplotype organiz- methods.2 Genotyping for 516G.T, 983T.C and 1459C.T was ation of CYP2B6 in Caucasians were originally described by then performed on the resultant amplicons by real-time PCR Lang et al. (medpdfarticles.com)
  • Three functional single nucleotide polymorphisms, PON1 C−108T, L55M, and Q192R, were assessed in 177 Italian and 107 Caucasian-American complete trios with primary autistic probands. (nature.com)
  • OBJECTIVES: The study evaluated the association between lipoprotein-associated phospholipase A2 (Lp-PLA2) gene polymorphisms and coronary heart disease (CHD), in order to explore the molecular genetics of CHD. (inra.fr)
  • R92H, V279F, and A379V polymorphisms of LP-PLA2 gene were confirmed using polymerase chain reaction (PCR) and direct DNA sequencing. (inra.fr)
  • Polymorphisms in rs1805017 and rs1805018, additional interaction between rs1805017 and smoking, and haplotype containing the rs1805017-H and rs1805018-T alleles were associated with increased CHD risk. (inra.fr)
  • To test this hypothesis, we studied PLA2G7 gene polymorphisms, Lp-PLA2 mass, activity, index, and other cardiovascular risk factors in women with preeclampsia. (inra.fr)
  • Single nucleotide polymorphisms (SNPs) of protein tyrosine phosphatase, non-receptor 11 ( PTPN11 ) gene, which encodes SHP2, may be associated with serum lipid levels via changing the activity of SHP2 on lipometabolism. (biomedcentral.com)
  • Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
  • Using data from the second phase (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III), we examined associations between 22 polymorphisms in 13 candidate genes and four serum lipids: high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TG). (cdc.gov)
  • Recent candidate gene studies [ 13 - 16 ], as well as genome-wide association studies [ 17 - 25 ], have identified polymorphisms that account for a portion of the variation in blood lipid levels. (cdc.gov)
  • Quality-controlled genotypic data was obtained from the International Multiple Sclerosis Genetics Consortium (IMSGC) from a study performed to identify multiple sclerosis (MS) susceptibility genes [ 37 ]. (biomedcentral.com)
  • Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)
  • All subjects are part of two NIMH-funded studies to localize schizophrenia susceptibility genes in Hispanic populations of Mexican and Central American ancestry. (bioone.org)
  • Population frequencies of common APOA5 alleles exhibit large interethnic differences. (wikipedia.org)
  • Database comparisons of the NAT2 minor allele frequencies support that Romanians belong to Caucasians and Kyrgyz are in between Caucasians and East Asians. (aacrjournals.org)
  • The genotype and allele frequencies of two polymorphism in patients with NTG and normal controls were compared using the Fisher exact test and the chi test. (nih.gov)
  • There was no significant difference in allele and genotype frequencies of +276G>T between type T2DM patients and controls. (who.int)
  • Inconsistencies might be caused by differences in study design, study populations (geographic and ethnic background), statistical methods and power, allele frequencies, and gene-environment interactions. (cdc.gov)
  • Within the APOA5 gene, a couple of important SNPs with a widely confirmed effect on plasma TG levels as well as rare mutations have been described. (wikipedia.org)
  • The haplotype without mutations was more common in Kyrgyz (40.1% in Kyrgyz, 29.3% in Romanians). (aacrjournals.org)
  • Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). (jamanetwork.com)
  • Mutations in some genes cause rare forms of T2DM, giving additional support for the genetic roles in the aetiology of the disease. (scialert.net)
  • Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
  • Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
  • Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. (biomedcentral.com)
  • CF is caused by biallelic pathogenic mutations in the cystic fibrosis transmembrane conductance regulator gene ( CFTR ), which is mostly expressed in epithelial cells functioning as a chloride channel protein. (biomedcentral.com)
  • C) in the OPA1 gene were determined using the restriction fragment length polymorphism method. (nih.gov)
  • We describe the role of allelic polymorphism in the gene coding for the CCR5 chemokine receptor with regard to susceptibility to and disease course of HIV infection. (cdc.gov)
  • Earlier HIV infec- receptor gene polymorphism in HIV infection, tion diagnosis, inhibition of ongoing HIV replica- only genes of the HLA system were thought to tion with antiretroviral therapy (in industrialized protect against HIV infection. (cdc.gov)
  • As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
  • 1997). Polymorphism of dopamine receptors and transporter genes in neuropsychiatric diseases. (geneticsmr.com)
  • PMID 22869321 ] Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals. (snpedia.com)
  • C genotype ( part of the CYP2B6*18 haplotype)impacts on nevirapine plasma concentrations and the first study to assess the impact of 983C homo-zygosity on efavirenz concentrations. (medpdfarticles.com)
  • The APOA5 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. (wikipedia.org)
  • These two SNPs together form four functionally distinct haplotypes. (solvobiotech.com)
  • Using a new and powerful technology in the form of a genome-wide chip that genotypes up to hundreds of thousands of SNPs, Genome-Wide Association Studies (GWAS) have recently led to the discovery of a group of novel genes that were reproducibly associated with T2DM risk. (scialert.net)
  • The aim of this study was to explore the association of tagging SNPs of PTPN11 gene and lipid levels in Chinese normal people. (biomedcentral.com)
  • For CHD patient-control haplotype analyses, the SHEsis online haplotype analysis software ( http://analysis.bio-x.cn/myAnalysis.php ) was employed. (inra.fr)
  • More than 60 genes have been identified to affect the risk of T1D, with the HLA loci having the greatest impact on susceptibility. (medcraveonline.com)
  • The association of T1D with alleles at HLA loci, especially the HLA class II genes DR and DQ, is well-established. (medcraveonline.com)
  • 4 -7 These studies indicate critical and significant interactions among different genes and/or loci within or linked to the MHC or non-MHC genes. (medcraveonline.com)
  • Genotypes from all three loci were combined to reveal three-locus DLA class II haplotypes, which were evaluated for statistical associations with DM. (biomedcentral.com)
  • An excess of SNP-level similarity was observed in class I of the MHC, and in a locus on chromosome 9 near eight consecutive functional odorant receptor genes. (biomedcentral.com)
  • No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
  • UGT family 2B members are derived from independent genes, whereas the entire UGT1A family is derived from a single gene locus in chromosome 2. (aspetjournals.org)
  • GMDR analysis indicated that there was a significant two-locus model (p = 0.0107) involving rs1805017 and smoking, indicating a potential gene-environment interaction between rs1805017 and smoking. (inra.fr)
  • Previous studies have reported that different genotypes of PTPN11 gene (protein tyrosine phosphatase, non-receptor 11) were associated with different levels of serum lipids. (biomedcentral.com)
  • Methods: Following written informed consent, 225 Caucasians and 146 Blacks were recruited from theGerman Competence Network for HIV/AIDS. (medpdfarticles.com)
  • For example, there are about 15% of carriers of the rs66299(C) allele among Caucasians, but the frequency could reach even between 40% and 50% among Asians. (wikipedia.org)
  • Apolipoprotein A-V is a protein that in humans is encoded by the APOA5 gene on chromosome 11. (wikipedia.org)
  • The gene for apolipoprotein A5 (APOA5, gene ID 116519, OMIM accession number - 606368) was originally found by comparative sequencing of human and mice DNA as a last member of the gene cluster of apolipoproteins APOA1/APOC3/APOA4/APOA5, located on human chromosome 11 at position 11q23. (wikipedia.org)
  • The APOA5 gene resides on chromosome 11 at the band 11q23 and contains 4 exons and 3 introns. (wikipedia.org)
  • This gene uses alternate polyadenylation sites and is located proximal to the apolipoprotein gene cluster on chromosome 11q23. (wikipedia.org)
  • These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)
  • In contrast, the Trp19 allele is very rare in the Asian population (less than 1% of carriers) but is common in Caucasians (about 15% of carriers). (wikipedia.org)
  • C) were recently found to be strongly associated with NTG in a Caucasian population. (nih.gov)
  • Allele reported 189 time(s) and present in 58 population(s). (allelefrequencies.net)
  • PMID 21736789 ] A variant near the melanocortin-4 receptor gene regulates postprandial lipid metabolism in a healthy Caucasian population. (snpedia.com)
  • The haplotype R-I was observed most frequently in two groups, with 47.43 and 54.38% in the case and control group of the population, respectively. (inra.fr)
  • We report the significant associations of blood lipids with variants and haplotypes in APOE , ITGB3, NOS3 , and PON1 in the three main race/ethnic groups in the U.S. population using a large, nationally representative and population-based sample survey. (cdc.gov)
  • OPA1, the gene responsible for autosomal dominant optic atrophy, represents a good candidate gene for normal-tension glaucoma (NTG). (nih.gov)
  • Identification of a gene that causes primary open angle glaucoma. (jamanetwork.com)
  • Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. (jamanetwork.com)
  • Our prior work on Reelin and APOE delineated a gene-environment interactive model of autism pathogenesis, whereby genetically vulnerable individuals prenatally exposed to OPs during critical periods in neurodevelopment could undergo altered neuronal migration, resulting in an autistic syndrome. (nature.com)
  • The rare G allele of +45T>G occurred more frequently than the common T allele in T2DM patients compared with controls, and was associated with lower serum adiponectin levels. (who.int)
  • An example of this class of genes is a mutation in the CHEK2 gene in breast cancer. (hindawi.com)
  • The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. (biomedcentral.com)
  • Chinese CF patients showed different clinical features and a distinct CFTR mutation spectrum compared with Caucasians. (biomedcentral.com)
  • The clinical manifestations and mutation spectrum have been well characterized in Caucasians. (biomedcentral.com)
  • The role of PTPN11 gene on lipid profile has not been described in Chinese so far. (biomedcentral.com)
  • Many genes involved in metabolic pathways have been found to contribute to lipid level variability [ 14 , 26 , 27 ]. (cdc.gov)
  • As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 ( NAT2 ) as a metabolic susceptibility gene in yet unexplored ethnicities. (aacrjournals.org)
  • The list below shows all populations in AFND that contains the allele. (allelefrequencies.net)
  • The distributions of predicted haplotypes differed significantly between the two ethnicities where the Kyrgyz showed a higher genetic diversity. (aacrjournals.org)
  • For example, cer- countries), and prevention and treatment of tain distributions of HLA class I alleles were opportunistic infections and cancers delay the observed in uninfected female commercial sex onset of AIDS and increase the life expectancy workers in Africa (13,14) and Thailand (11), who of HIV-infected persons. (cdc.gov)
  • However, the PON1 A-G haplotype was significantly associated with LDL-C and TC. (cdc.gov)
  • The protein encoded by this gene is an apolipoprotein and an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease. (wikipedia.org)
  • The discovery of the gene sequences and predicted protein structures, role of CCR5 alleles has prompted studies of but their ligands have not been identified the possible role of many other host genes in (orphan receptors). (cdc.gov)
  • The role of genes ceptibility to HIV infection and the course of HIV of the human leukocyte antigen (HLA) system in disease. (cdc.gov)
  • Pre- hematopoietic and other cells, but the Duffy sence of one copy of the deleted CCR5 gene also antigen of erythrocytes (DARC) is the only influences the course of disease as the onset of member expressed on cells of erythroid lineage. (cdc.gov)
  • Associations of particular dog leucocyte antigen (DLA) class II haplotypes with DM have been identified, but investigations to date have only considered all breeds pooled together. (biomedcentral.com)
  • A Dutch group simultaneously described an identical gene as apolipoprotein which it is associated with the early phase of liver regeneration, but failed to recognise its important role in the determination of plasma triglyceride levels. (wikipedia.org)
  • The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women. (snpedia.com)
  • FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. (snpedia.com)
  • Although some scientists expected to find at least 100,000 genes coding for proteins, only about 30,000-35,000 of such genes appear to be in the human genome. (learner.org)
  • Earlier studies using a candidate gene approach, family linkage studies and gene expression profiling uncovered a number of T2DM genes, but the genetic basis of common T2DM remained unknown. (scialert.net)
  • Approximately 20 genes consistently associated with T2DM mainly implicate pancreatic β-cell function in the pathogenesis of T2DM. (scialert.net)
  • First, molecular events in T2DM pathogenesis have been examined directly by testing the role of sequence variants of specific candidate genes. (scialert.net)
  • The candidate gene approach focuses on the search for an association between T2DM and sequence variants in or near biologically defined candidate genes which have been chosen based on their known physiological function. (scialert.net)
  • To overcome the shortcomings of the candidate gene studies, investigators have applied a genome-wide linkage scan strategy in which regularly spaced markers are traced in families and sibling pairs for segregation with T2DM. (scialert.net)
  • It is believed that apoA-V affects lipoprotein metabolism by interacting with LDL-R gene family receptors. (wikipedia.org)
  • Studies of the effect of host genes on sus- million people, including 300,000 children under ceptibility to HIV infection were facilitated by the 5 years of age. (cdc.gov)
  • Genome wide association studies, fluorescence in situ hybridization, comparative genomic hybridization, and candidate gene studies have enumerated genetic contributors to cancers in women. (hindawi.com)
  • A collection of genes encoding the dog leucocyte antigens (DLA) play a critical role in regulating immune responses and previous studies have implicated a role for these genes in canine DM. (biomedcentral.com)
  • Future studies of gene function in single breeds will help identify causal variants and mechanisms, which may lead to improved diagnosis and management of affected dogs. (biomedcentral.com)
  • Here, we indirectly test this hypothesis by assessing linkage/association between autism and variants of the paraoxonase gene (PON1) encoding paraoxonase, the enzyme responsible for OP detoxification. (nature.com)
  • There are also a further three common variants (A-3>G, IVS+476 G>A and T1259>C) which are not necessary for haplotype characterisation. (wikipedia.org)
  • Examples of these genes are BRCA1 and BRCA2 in breast and ovarian cancers. (hindawi.com)
  • But we did not found any gene-drinking and gene-gene interaction combinations in GMDR models. (inra.fr)
  • In the three breeds known to be at highest risk of DM included in the study (Samoyed, Tibetan Terrier and Cairn Terrier), no DLA haplotypes were found to be associated with DM. (biomedcentral.com)
  • Univariate and multivariable linear regression and within-gene haplotype trend regression were used to test for genetic associations assuming an additive mode of inheritance for each of the three major race/ethnic groups in the United States (non-Hispanic white, non-Hispanic black, and Mexican American). (cdc.gov)
  • The data from Hapmap database show that variants of PTPN11 gene present great varieties in different ethnicities. (biomedcentral.com)
  • Conversely, there was significant dissimilarity in the MHC class II region, near the HLA-DQA1 and - DQB1 genes. (biomedcentral.com)
  • However, other candidate genes may also have some significant impact on genetic susceptibility. (medcraveonline.com)
  • A haplotype in interleukin 12B was nominally associated with tuberculosis (p = 0.02), but after permutation testing, done to assess the significance for the entire analysis, this was not globally significant. (biomedcentral.com)
  • Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (snpedia.com)
  • The results also indicated that the haplotype containing the rs1805017-H and rs1805018-T alleles were associated with a statistically increased CHD risk, OR (95% CI) 1.43 (1.10-1.86), p = 0.0021. (inra.fr)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • OBJECTIVE- HLA-DRB1* 03 -DQB1* 0201 /DRB1* 04 -DQB1* 0302 ( DR3/4-DQ8 ) siblings who share both major histocompatibility complex (MHC) haplotypes identical-by-descent with their proband siblings have a higher risk for type 1A diabetes than DR3/4-DQ8 siblings who do not share both MHC haplotypes identical-by-descent. (diabetesjournals.org)
  • Our goal was to search for non -DR/DQ MHC genetic determinants that cause the additional risk in the DR3/4-DQ8 siblings who share both MHC haplotypes. (diabetesjournals.org)
  • The average increase in waist circumference is 0.9cm BMI units per risk allele. (snpedia.com)
  • In 5 breeds, increased risk for or protection from DM was associated with particular DLA gene variations. (biomedcentral.com)
  • This study compared variation within the DLA genes of diabetic and non-diabetic dogs for 12 different breeds. (biomedcentral.com)