• The aim of this study was to investigate the association of SNPs of three adhesion molecule genes, ICAM1 , PECAM1 and CD36 , with severity of falciparum malaria in a malaria-endemic and a non-endemic region of India. (biomedcentral.com)
  • Single nucleotide polymorphisms (SNPs) in genes encoding CD36, ICAM-1 and PECAM-1 have been previously correlated with disease protection/susceptibility from different populations but these reports have often been contradictory. (biomedcentral.com)
  • The aim of the present study was to determine the association of -344T/C and -470C/T Single Nucleotide Polymorphisms (SNPs) of the CYP11B2 and their resulted haplotypes with EH and Plasma Aldosterone Concentration (PAC) in southern population of Iran. (ephysician.ir)
  • Thirty SNPs of well-defined functional genes were investigated. (cancerindex.org)
  • Two SNPs in X-Ray Repair Cross Complementing 2 gene (XRCC2) rs2040639 and interferon gamma (IFNG) rs2069705 genes were found to be associated with ARSR. (cancerindex.org)
  • B7 is found in two major haplotypes in Europe, where it reaches peak frequency in Ireland. (wikipedia.org)
  • In general, the inverse relation that applies between the frequency of a genetic allele in the population and its penetrance seems to apply also to haplotypes. (cdc.gov)
  • The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)
  • Natural selection quickly increases in frequency any alleles which confer protection against the exogenous stress. (discovermagazine.com)
  • Although the frequency of each ancestral haplotype is low in the population, the OR were quite higher than those previously obtained for single HLA allele associations, with some p values as low as 10 -4 . (edu.pe)
  • 14 Pokorny et al 15 studied three polymorphisms located inside or near the MLH1 gene, one of the DNA mismatch repair genes implicated in hereditary non-polyposis colon cancer (HNPCC), 16 in a cohort of IBD patients. (bmj.com)
  • Following the initial report of Pokorny et al , 15 we performed a case-control study with the aim of investigating the association of polymorphisms of the MLH1 gene with CD and UC in our population of Italian IBD patients. (bmj.com)
  • The association of PAC with each one of the polymorphisms and haplotypes was also analyzed by multinomial logistic regression. (ephysician.ir)
  • On the other hand, although -344T/C and -470C/T polymorphisms showed no association with PAC (p=0.97, OR=1.00 and p=0.70, OR=0.98, respectively), a significant relationship was found between the H3 haplotype (TT) and PAC (p=0.039, OR=1.29). (ephysician.ir)
  • Other Dmrt1 polymorphisms were detected, which formed two haplotypes. (docslib.org)
  • While none of the observed polymorphisms have been associated with blinding disorders to date, breed and potentially disease specific haplotypes have been identified. (upenn.edu)
  • The aim of this study is to screen single nucleotide polymorphisms (SNP) of chicken Calpain3 ( CAPN3 ) gene and to analyze the potential association between CAPN3 gene polymorphisms and carcass traits in chickens. (biomedcentral.com)
  • We tested the association of MHC ancestral haplotypes with rapid or slow progression to AIDS by comparing their frequencies in the French genetics of resistance/susceptibility to immunodeficiency virus cohort with that reported in a control French population. (edu.pe)
  • 10 -4 ) ancestral haplotypes were associated with slow progression to AIDS. (edu.pe)
  • The colonies derive from a limited pool of ancestral haplotypes resembling those found in inbred strains: over 95% of sequence variants segregating in outbred populations are found in inbred strains. (ox.ac.uk)
  • The CD36 rs1334512 (-53) T allele as well as the TT genotype associated with protection from severe disease (severe versus control, TT versus GG, OR = 0.37, P = 0.004). (biomedcentral.com)
  • Deviations of genotype frequencies from Hardy-Weinberg Equilibrium (HWE) and differences between allele frequencies and genotype distributions were calculated by Chi-square test. (ephysician.ir)
  • Several genes have been found to be involved in were genotyped for the SNP Cyn_Z_6676874, from which TSD in turtles (Chojnowski and Braun 2012), showing the 171 fish of the ZTW genotype were selected for 2b- interaction between genetic and environmental factors. (docslib.org)
  • The polymorphic variants of the IGF genes may serve as a susceptibility factor for pancreatic cancer. (aacrjournals.org)
  • Evidence suggested that aldosterone synthase gene (CYP11B2) variants are associated with the Essential Hypertension (EH). (ephysician.ir)
  • 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)
  • Based on pharmacological studies indicating a critical role of the mineralocorticoid receptor (MR) in the stress-induced bias toward dorsal striatal learning, we hypothesized that MR gene variants contribute to these individual differences. (eneuro.org)
  • We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) Spanish families without pathogenic variants in BRCA1 or BRCA2 (BRCA1/2). (cancerindex.org)
  • Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)
  • However, little information has been gathered to date regarding the genomic location of drought-regulated genes, either expressed throughout plant development or at late reproductive stages influencing seed yield and quality. (biomedcentral.com)
  • The close genomic locations of these two genes as well as their functional similarity have hindered efforts to define whether each gene independently influences human triglyceride concentrations. (doe.gov)
  • Corresponding region of chromosome 6 contains nearly one million nucleotides thus these genes, or another closely linked gene could be involved in such massing of inflammatory granulomata. (wikipedia.org)
  • The HFE gene responsible for haemochromatosis is distal on chromosome 6 from HLA-A and more so from HLA-B, the distance suffices (3 million nucleotides) to allow equilibration of the loci. (wikipedia.org)
  • 2- 8 In particular, many replication studies, including a large international cooperative study 9 and our own, 10 have confirmed linkage to a locus on chromosome 16, named IBD1 . (bmj.com)
  • Interestingly, markers from chromosome 3p21 located less than 10 cM away from the MLH1 gene showed evidence of linkage to IBD in a genome wide search. (bmj.com)
  • Linkage and comparative mapping studies indicate that the transferred chromosome segment contains a number of candidate genes for hypertension, including genes encoding a brain dopamine receptor and a renal epithelial potassium channel. (jci.org)
  • These findings demonstrate that BP regulatory gene(s) exist within the differential chromosome segment trapped in the SHR-Lx congenic strain and that this region of chromosome 8 plays a major role in the hypertension of SHR vs. BN-Lx rats. (jci.org)
  • 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)
  • This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. (cancerindex.org)
  • Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. (doe.gov)
  • 1 Several systematic genome wide searches for susceptibility genes in patients with IBD have reported linkage to specific regions of the genome. (bmj.com)
  • 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)
  • the statement that single gene-environment interactions represent sufficient causal complexes is probably true, but it is a hypothesis that requires much additional research. (cdc.gov)
  • Simultaneous inference of haplotypes and alleles at a causal gene by: Fabrice eLarribe, et al. (uitm.edu.my)
  • Sarcoidosis and human leukocyte antigen class I and II genes: it takes two to tango? (wikipedia.org)
  • Higher order interactions, that is to say of particular haplotypes with a disease, are much more complicated than individual antigen associations, with which most disease studies have so far been concerned. (ox.ac.uk)
  • The main emphasis is to point out that it is not easily possible to detect haplotype associations if an individual antigen association with the disease exists. (ox.ac.uk)
  • 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)
  • Susceptibility/resistance of human populations to severe falciparum malaria has been associated with variations in more than 30 genes. (biomedcentral.com)
  • However, quantitative differences in allele frequencies, rather than the existence of private alleles, are responsible for these population differences. (ox.ac.uk)
  • Our aim in this work is to explain the concept of higher order interactions and to discuss the difficulties involved when trying to measure such haplotype associations. (ox.ac.uk)
  • Haplotype analysis has been increasingly used to study the genetic basis of human diseases, but models for characterizing genetic interactions between haplotypes from different chromosomal regions have not been well developed in the current literature. (uitm.edu.my)
  • Future studies should dissect these functional, possibly interactive relationships of DYX2 candidate genes. (springer.com)
  • Haplotypes within a set of 17 starch biosynthesis/degradation genes were defined, and a particularly high level of haplotype variation was uncovered in the genes encoding sucrose synthase (types I and II) and starch synthase. (biomedcentral.com)
  • The high level of haplotype variation among starch biosynthesis/degradation genes in the progenitors of cultivated barley shows that domestication and breeding have greatly eroded their allelic diversity in current elite cultivars. (biomedcentral.com)
  • This study compared variation within the DLA genes of diabetic and non-diabetic dogs for 12 different breeds. (biomedcentral.com)
  • The same alleles contribute to variation in different colonies, so that when mapping progress stalls in one, another can be used in its stead. (ox.ac.uk)
  • 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)
  • Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319 , in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. (springer.com)
  • Three polymorphic markers located within or near the MLH1 gene were selected for the analysis (table 1). (bmj.com)
  • Our findings indicated that TT, as the two-single-nucleotide polymorphism haplotype in promoter region of CYP11B2 gene, is associated with plasma aldosterone concentration in the southern population of Iran. (ephysician.ir)
  • In persistent sarcoidosis this haplotype appears elevated, further study eliminated risk contributed by A3-Cw7 and DQ6.2 indicating B7-DR15 haplotype contains risk of disease (OR = 2.5). (wikipedia.org)
  • In Croatian children, two HLA-B27 alleles were found associated with disease, B*2702, B*2705. (wikipedia.org)
  • A more recent study looked at a number of linked gene-alleles and found I82-2:D6S265-1:HLA-A3:D6S128-2:HLA-F1:D6S105-8 was constantly associated while B7 appeared beyond the haplotype linked to disease. (wikipedia.org)
  • They found that specific MLH1 haplotypes were associated with the presence and family history of the disease in both CD and UC. (bmj.com)
  • the G allele was a risk factor for malaria in the endemic region, but exhibited significant association with protection from disease in the non-endemic region. (biomedcentral.com)
  • Sickle-cell disease one of the classical illustrations of heterozygote advantage, whereby those who carry one copy of the mutation on the gene have increased fitness vis-a-vis those who carry two normal copies of the gene. (discovermagazine.com)
  • HLA haplotype associations with disease. (ox.ac.uk)
  • Previous studies have identified single HLA alleles associated with disease progression. (edu.pe)
  • So, these people are likely to be at higher risk of cardiovascular or kidney disease compared to the other investigated haplotypes. (ephysician.ir)
  • Novel DLA associations with DM in specific dog breeds provide further evidence that immune response genes contribute susceptibility to this disease in some cases. (biomedcentral.com)
  • Two disease-specific sequence alterations were identified in the canine VMD2 gene: a C73T stop mutation in cmr1 and a G482A missense mutation in cmr2. (upenn.edu)
  • Association of the ICAM1 rs5498 (exon 6) G allele and the CD36 exon 1a A allele with increased risk of severe malaria was observed (severe versus control, OR = 1.91 and 2.66, P = 0.02 and 0.0012, respectively). (biomedcentral.com)
  • The expression patterns of drought regulated genes were monitored during plant ontogeny, mapped and the location of these genes was incorporated into a comprehensive barley SNP linkage map. (biomedcentral.com)
  • Stepwise haplotype analysis: Are LD patterns repeatable? (uitm.edu.my)
  • A hidden Markov model for haplotype inference for present-absent data of clustered genes using identified haplotypes and haplotype patterns by: KUI eZHANG, et al. (uitm.edu.my)
  • Genome-wide association studies using commercially available outbred mice can detect genes involved in phenotypes of biomedical interest. (ox.ac.uk)
  • However, much of the available information about this gene was taken from studies on humans, mice, and other mammalian species, and might not be directly applicable to poultry. (biomedcentral.com)
  • However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. (upenn.edu)
  • Nonetheless, a linkage has been found between A3-B7 haplotype and haemochromatosis. (wikipedia.org)
  • Prospective association analysis based on core drought-regulated genes may simplify the process of identifying favourable alleles, and help to understand the genetic basis of the response to terminal drought. (biomedcentral.com)
  • Plants have evolved a range of defence and escape mechanisms [ 1 ], and these are typically mediated by multiple rather than by single genes. (biomedcentral.com)
  • Effects of Single Nucleotide Polymorphism Marker Density on Haplotype Block Partition by: Sun Ah Kim, et al. (uitm.edu.my)
  • A mutation in codon 29 (K56M, rs5491) of the ICAM1 gene was identified in the Kilifi region of Kenya and homozygotes for the mutation were found to be more frequent in patients suffering from cerebral malaria than in controls [ 7 ]. (biomedcentral.com)
  • The linkage/expression map is an informative resource in the context of characterizing the response of barley to drought stress. (biomedcentral.com)
  • Regulation of bacterial virulence gene expression by the host environment. (jci.org)
  • In line with pharmacological studies pointing to a critical role of the mineralocorticoid receptor (MR) in the stress-induced learning bias, we report here that a MR haplotype associated with enhanced MR expression facilitates habit learning under stress. (eneuro.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Expression of the canine gene transcripts and protein was analyzed by Northern and Western blotting and immunocytochemistry. (upenn.edu)
  • 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)
  • As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. (upenn.edu)
  • The authors propose these two spontaneous mutations in the canine VMD2 gene, which cause cmr, as the first naturally occurring animal model of BMD. (upenn.edu)
  • The analysis of the recombinant fragments of these haplotypes allowed the identification of the MHC regions in the 35.1, 35.2, and 44.2 haplotypes associated with rapid progression to AIDS and the MHC regions of the 44.1 and 57.1 haplotypes associated with slow progression to AIDS. (edu.pe)
  • B*07 and the B*07-Cw*07 haplotype are much more common in Caucasians than other ethnic groups in the U.S., which may partially explain the higher incidence of glioblastoma multiforme in Caucasians. (aacrjournals.org)
  • So, even if the level of susceptibility associated with a certain haplotype (due to, say, six different genes) is very high, the probability of having that haplotype is low. (cdc.gov)
  • Over the long term one assumes that 'better solutions' will emerge which do not have so high a fitness drag, perhaps through the evolution of modifier genes which mask the deleterious outcomes of the initial mutant. (discovermagazine.com)
  • Streamlining Regulon Identification in Bacteria Regulons are a group of genes that can be turned on or off by the same regulatory protein. (doe.gov)
  • But, baked into the cake of how genetics in complex organisms usually works, one allele may often have multiple downstream consequences. (discovermagazine.com)
  • We report haplotyping data for 17 starch biosynthesis/degradation genes demonstrating the broad diversity among H. spontaneum accessions and H. vulgare landraces but rather limited genetic variance in the current elite breeding germplasm by fixing certain haplotypes. (biomedcentral.com)
  • The data highlights the significance of variations in the ICAM1 , PECAM1 and CD36 genes in the manifestation of falciparum malaria in India. (biomedcentral.com)
  • The aim of this study was to analyse an expanded data set so as to identify breed-specific diabetes-associated DLA haplotypes. (biomedcentral.com)
  • To my knowledge no one knows major negative consequences of carrying the alleles which confer lactase persistence (excepting some studies indicating higher obesity, but this seems a marginal fitness impact which has only come to the fore in the past century in all likelihood). (discovermagazine.com)
  • Our results further substantiate the candidacy of KIAA0319 and DCDC2 as major effector genes in DYX2, while proposing FAM65B and CMAHP as new DYX2 candidate genes. (springer.com)
  • Interest recently has extended to the problem of looking for HLA haplotype associations with particular diseases. (ox.ac.uk)
  • The interaction and linkage between Cyn_Z_6676874 and Cyn_Z_8564889 and the absence of W sperm from pseudomales unravel the genetic architecture of sex reversal in C. semilaevis. (docslib.org)
  • We speculated that the CAPN3 gene was a major gene affecting chicken muscle growth and carcass traits or it was linked with the major gene(s). (biomedcentral.com)
  • We hypothesized that CAPN3 gene may be a major gene affecting chicken carcass traits. (biomedcentral.com)
  • RIViT-seq technology could speed up associating transcription factors with their target genes. (doe.gov)
  • Conversely, there was significant dissimilarity in the MHC class II region, near the HLA-DQA1 and - DQB1 genes. (biomedcentral.com)
  • The serotype identifies the more common HLA-B*07 gene products. (wikipedia.org)
  • A common serologically defined haplotype in Europeans is HLA A3-Cw7-B7-DR15-DQ6.2 which is composed of alleles A*0301:Cw*0701:B*0702:DRB1*1501:DQA1*0102:DQB1*0602. (wikipedia.org)