Genes haplotypes. Medical search. Frequent questions

Interleukin-8 (IL-8) gene polymorphisms have been considered as susceptibility factors in periodontal disease. (nih.gov)
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 results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. (wayne.edu)
In a previous work, we showed that four OPN polymorphisms form three haplotypes (A, B, and C) and that homozygotes for haplotype-A display lower OPN levels than non-AA subjects. (unict.it)
While none of the observed polymorphisms have been associated with blinding disorders to date, breed and potentially disease specific haplotypes have been identified. (edu.au)
Polymorphisms of NOS3, the gene that codes for endothelial nitric oxide synthase, have been associated with essential hypertension. (maastrichtuniversity.nl)
The influence of NOS3 polymorphisms on conventional and ambulatory blood pressure was assessed by sib-pair analysis and haplotype association analysis. (maastrichtuniversity.nl)
The present study was carried out to detect the association of cytokines (IL-2 and IL-4) haplotypes polymorphisms with breast cancer in Iraqi patients, PCR-SSCP technique used in present study, imbedded tissue was used to DNA extraction, the results show that there was strong association between IL-4 and cancer tissue in three haplotype from five, IL-2 show strong association with breast cancer in tow haplotype from five. (derpharmachemica.com)
Previous studies on the effect of genetic polymorphisms on bone mineral density (BMD) showed significant correlation between various haplotypes and mutations in the VDR and MTHFR and low bone mineral density [BMD] among Palestinian postmenopausal subjects. (qscience.com)
Aim In the present study, correlation between specific XbaI and PvuII polymorphisms in the ERÎ± gene and selected polymorphisms in the VKORC1 gene with low BMD and fractures risk were investigated in 345 postmenopausal Palestinian women including 165 osteoporotic, 93 osteopenic and 86 normal subjects using allele-specific polymerase chain reaction (PCR) and RFLP-PCR technology. (qscience.com)
Conclusions These findings indicate that specific polymorphisms in the ERÎ± gene and VKORC1 gene are correlated with variation in BMD levels among our subjects. (qscience.com)
Objective: The objective of the present study was to evaluate whether germline methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms as well as polymorphisms in the thymidylate synthase gene promoter, namely the variable number tandem repeat polymorphism (TS VNTR) and the intrarepeat G to C single nucleotide polymorphism (TS SNP), are predictive markers of tumor regression in rectal cancer patients following preoperative chemoradiotherapy. (unipd.it)
Nevertheless, the effects of the RAN and RANBP2 gene polymorphisms on the tumorigenesis of Wilms tumor remain unclarified. (jcancer.org)
We identified 21 haplotype-tagging polymorphisms efficiently capturing common variation within 325 kb of ACC-alpha and surrounding sequences using genotype data from the HapMap project and our resequencing data. (ox.ac.uk)
The objectives of this study are to evaluate the association of the genotype and haplotype distributions of three single-nucleotide polymorphisms (SNPs) (G-217A, A-6G, and M235T) in the AGT gene with hypertension. (tmu.edu.tw)
On the basis of likelihood ratio test, only the set of haplotypes that constituted the A-6G and the M235T polymorphisms was associated with hypertension (χ 2 = 20.91, P = 0.0008), which was mainly due to the increased frequency of the recombinant haplotypes (-6A ≡ 235M and -6G ≡ 235T), and a pathophysiological role in the predisposition to hypertension was hence indicated. (tmu.edu.tw)
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)
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)
Population genetic variation in five single nucleotide polymorphisms (SNPs) in the 5′ region of the IL-4 gene was assessed in five racial groups. (johnshopkins.edu)
The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population. (muni.cz)
Five ACE gene polymorphisms (rs4291/rs4305/rs4311/rs4331/rs1799752 = ACE I/D) were determined by TaqMan technique. (muni.cz)
Associations between polymorphisms in DNA repair genes and glioblastoma. (cdc.gov)
A significant, protective effect was found when three single-nucleotide polymorphisms (ERCC2 rs13181, ERCC1 rs3212986, and GLTSCR1 rs1035938) located near each other on chromosome 19 were modeled as a haplotype. (cdc.gov)
DNA methyltransferase 3B gene promoter and interleukin-1 receptor antagonist polymorphisms in childhood immune thrombocytopenia. (cdc.gov)
The polymorphisms of T cell-specific TBX21 gene may contribute to the susceptibility of chronic immune thrombocytopenia in Chinese population. (cdc.gov)
Relationship between polymorphisms of tumor necrosis factor alpha gene and primary myelodysplastic syndromes]. (cdc.gov)

Two sgRNAs vectors targeting the IL-8 gene and the naked homologous repair DNA carrying different haplotypes were used to successfully generate HEK293T cells carrying the AT genotype at the first SNP - rs4073 (alias -251), TT genotype at the second SNP - rs2227307 (alias +396), TC or CC genotypes at the third SNP - rs2227306 (alias +781) at the IL-8 locus. (nih.gov)
A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. (wikipedia.org)
The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. (wikipedia.org)
An organism's genotype may not define its haplotype uniquely. (wikipedia.org)
Of the few unusual haplotypes not in the canonical set, some are found in a genotype context that is similar to a genotype expected from a combination of a pair of canonical haplotypes, except that one or several polymorphic positions appear, unexpectedly, homozygous. (bmj.com)
In the present study, we used unphased genotype data for 12 common biallelic BRCA1 SNPs (located from exons 4 to 16) generated during sequence based clinical mutation testing to obtain BRCA1 SNP haplotypes for 5911 anonymised samples, by applying an expectation maximisation (EM) algorithm similar to those described elsewhere. (bmj.com)
We performed a candidate gene association study of TRIM22 genotype and haplotypes with markers of disease progression and indicators of advanced disease. (lu.se)
TRIM22 genotype and haplotypes were not associated with CD4+ T-cell count, HIV-1 viral load, stunting or chronic diarrhoea. (lu.se)

The term 'haplogroup' refers to the SNP/unique-event polymorphism (UEP) mutations that represent the clade to which a collection of particular human haplotypes belong. (wikipedia.org)
A haplogroup is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. (wikipedia.org)
Although some single polymorphism analyses of the angiotensinogen (AGT) gene have been found to be associated with hypertension, the results are still inconsistent. (tmu.edu.tw)
Variation at four single nucleotide polymorphism (SNP) sites of the interleukin 1 (IL1) gene cluster was investigated among 280 unrelated individuals, representing 7 caste groups from the state of Karnataka, India, and one European American community of Boston, Massachusetts. (srirajlab.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)
Stable Y-chromosomal polymorphism is difficult to reconcile with haplotype frequency variations without assuming frequency-dependent selection or specific interactions in the population dynamics of X- and Y-chromosomal genes, since otherwise the fittest haplotype would inevitably sweep to fixation. (oregonstate.edu)
These sex-ratio (SR) genes modify (suppress) gamete transmission in their own favour at a fitness cost, allowing for stable polymorphism. (oregonstate.edu)
For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
Association of Thrombomodulin Gene Polymorphism (C1418T) With Coronary Artery Disease in Pakistani Population. (cdc.gov)
However, Lafuente et al did not find evidence of involvement of a polymorphism with a variable number of tandem repeats (VNTD) in the DAT gene (SLC6A3) in dyskinesias induced by antipsychotics. (medscape.com)
Galecki et al reported the association of a polymorphism of the manganese superoxide dismutase ( MnSOD ) gene and TD. (medscape.com)

Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. (nature.com)
In order to meet the grand challenge of human genetics, that is, to understand what causes disease and translate this knowledge to improve health outcomes, we need to know the number and population frequency of disease variants, the magnitude of their effects on phenotype and gene-gene and gene-environment interactions. (nature.com)
For monogenic disorders, the genetic architecture is simplified as disease variants are, by definition, highly penetrant and environmental and gene-gene interactions are minimized. (nature.com)
Patients with ABCA4 -related disease have pathogenic variants in the ABCA4 gene which encodes a large, 2273 amino acid photoreceptor-specific transporter involved in the removal of toxic retinoid compounds from photoreceptors [ 20 ]. (nature.com)
Main results: Among the polymorphic variants examined, the MTHFR 677T-1298A haplotype was, upon univariate analysis, the only variable found associated with tumor regression (P=0.004). (unipd.it)
However, they suggest a possible role of the ACC-alpha common sequence variants in susceptibility to breast cancer and encourage studies of other genes involved in fatty acid synthesis. (ox.ac.uk)
These results highlight the necessity of a thorough analysis of all reported variants of a candidate gene in the elucidation of genetic susceptibility to a complex disease like hypertension, even when the variants are in the same haplotype block. (tmu.edu.tw)
Evidence suggested that aldosterone synthase gene (CYP11B2) variants are associated with the Essential Hypertension (EH). (ephysician.ir)
A pooled analysis was conducted to examine the association between select variants in DNA repair genes and glioblastoma multiforme, the most common and deadliest form of adult brain tumors. (cdc.gov)
Few studies have reported on the associations between variants in DNA repair genes and brain tumors, and few specifically have examined their impact on glioblastoma multiforme. (cdc.gov)

Taken together, our data provides evidence that carriage of the ATC/TTC haplotype in itself may increase the influx of neutrophils in inflammatory lesions and influence disease susceptibility. (nih.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)
A key fatty acid synthesis enzyme, acetyl-CoA carboxylase alpha (ACC-alpha), has been shown to be highly expressed in human breast cancer and other tumor types and also to specifically interact with the protein coded by one of two major breast cancer susceptibility genes BRCA1. (ox.ac.uk)
Conclusions Our study indicates that while the AGTGD and TGD haplotypes are associated with increased risk of RAS development, CGI haplotype might be one of protective factors against RAS susceptibility in Czech population. (muni.cz)
A genome-wide study in a northern European population replicated the association of SLE with susceptibility genes related to B-cell receptor pathway signaling, as well as confirmed the association of SLE with genes at the interferon regulatory factor 5 (IRF5)-TNPO3 locus. (medscape.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)
The involvement of other genes variation like the osteoprotegrin and TNF superfamily member genes are underway. (qscience.com)
Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. (ox.ac.uk)
The cloning of agriculturally important genes is often complicated by haplotype variation across crop cultivars. (tamu.edu)
We found extensive haplotype variation across the ten cultivars, with a particular group of MYB alleles that was conserved in red glume wheat cultivars. (tamu.edu)
SR genes may play a broader and largely overlooked role in mammalian sex-ratio variation. (oregonstate.edu)
This increased variation is presumably attributable to recombination or gene conversion. (johnshopkins.edu)
Our results suggest that common variation in DNA repair genes may be associated with risk for glioblastoma multiforme. (cdc.gov)

Haplotype analysis placed the cataract locus to a 5.0 cM region between D19S902 and D19S867, in close proximity to the L-ferritin light chain gene (FTL) on chromosome 19q13.3. (nih.gov)
The data also revealed the +2255 TT haplotype which is linked to lower activity of the enzyme was associated with low BMD while the presence of the C allele [CC or CT], linked to higher activity at this locus, was associated with normal BMD levels [P=0.02]. (qscience.com)
Most of the human SNP diversity at a given locus may be described as a set of "canonical" haplotypes, representing common haplotypes in a population. (bmj.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)

Microfluidic whole genome haplotyping is a technique for the physical separation of individual chromosomes from a metaphase cell followed by direct resolution of the haplotype for each allele. (wikipedia.org)
The synteny analysis showed conserved regions between the two haplotypes with some structural variations in Chromosomes 2, 4, 7 and 8. (qld.gov.au)

4- 8 An additional 17 samples were excluded from deletion testing because their haplotypes were defined by changes at two, non-adjacent haplotype defining SNPs, which could not be explained by a single deletion event. (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)
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)
However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. (edu.au)
A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with multipoint lod score and haplotype analysis was performed. (nih.gov)
Allele and haplotype frequencies, strength of linkage disequilibrium, and signatures of recombination varied considerably among populations. (srirajlab.com)
For performing haplotype analysis and pairwise Linkage Disequilibrium (LD) among the genotypes, SNP analyzer version 2 software and SHEsis online server were utilized. (ephysician.ir)

Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. (doe.gov)
First, it is used to mean a collection of specific alleles (that is, specific DNA sequences) in a cluster of tightly linked genes on a chromosome that are likely to be inherited together-that is, they are likely to be conserved as a sequence that survives the descent of many generations of reproduction. (wikipedia.org)
It is thought that identifying these statistical associations and a few alleles of a specific haplotype sequence can facilitate identifying all other such polymorphic sites that are nearby on the chromosome. (wikipedia.org)
so, unlike autosomal haplotypes, there is effectively not any randomisation of the Y-chromosome haplotype between generations. (wikipedia.org)
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. (ox.ac.uk)
We have recently identified a risk haplotype associated with dyslexia on chromosome 6p22.2 which spans the TTRAP gene and portions of THEM2 and KIAA0319. (ox.ac.uk)
These data suggest a direct link between a specific genetic background and a biological mechanism leading to the development of dyslexia: the risk haplotype on chromosome 6p22.2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex. (ox.ac.uk)
Relatively few genomes have been anchored at the chromosome level and/or are haplotype phased, with the available genomes of varying accuracy and completeness. (qld.gov.au)
This chromosome scale, and haplotype resolved C. australis genome will facilitate the study of important genes for citrus breeding and will also allow the enhanced definition of the evolutionary relationships between wild and domesticated citrus species. (qld.gov.au)

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)
These methods work by applying the observation that certain haplotypes are common in certain genomic regions. (wikipedia.org)
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)

BACKGROUND: The Y-chromosomal diversity in the African buffalo (Syncerus caffer) population of Kruger National Park (KNP) is characterized by rainfall-driven haplotype frequency shifts between year cohorts. (oregonstate.edu)
3 Interestingly, two BRCA1 haplotypes account for the bulk of the genotypes, the consensus at 59% frequency, and the most common non-consensus haplotype at 21% (fig 1). (bmj.com)
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. (lu.se)

Access to pan-genome information greatly facilitates the assessment of structural variations and rapid candidate gene identification. (tamu.edu)
Hifiasm with Hi-C integrated assembly resulted in a 331 Mb genome of C. australis with two haplotypes of nine pseudochromosomes with an N50 of 36.3 Mb and 98.8% genome assembly completeness (BUSCO). (qld.gov.au)
A total of 29 464 genes and 32 009 transcripts were identified in the genome. (qld.gov.au)

globin gene cluster haplotypes but agree with our recent findings on the distribution of a-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. (wayne.edu)
Although the causative allele may not be identified, in fact the gene involved is likely to have been identified in the GWAS. (medscape.com)

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)
Researchers have identified hundreds of different versions (alleles) of the HLA-DRB1 gene, each of which is given a particular number (such as HLA-DRB1 *04:01). (medlineplus.gov)
rare alleles or deletions of genes in the major histocompatibility complex Human Leukocyte Antigen (HLA) System (MHC) class III region are common. (msdmanuals.com)
For example, a recent study showed synergistic interaction between risk alleles found in the following pairs of genes: HLA-CTLA4, IRF5-ITGAM, and PDCD1-IL21. (medscape.com)

Here, we demonstrate for the first time the use of the CRISPR/Cas9 system to engineer the IL-8 gene, and tested the functionality of different haplotypes. (nih.gov)
Therefore, given a set of possible haplotype resolutions, these methods choose those that use fewer different haplotypes overall. (wikipedia.org)

Both wet and dry periods were associated with a specific haplotype indicating a SR distorter and SR suppressor, respectively. (oregonstate.edu)

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)

Rainfall-driven sex-ratio genes in African buffalo suggested by correlations between Y-chromosomal haplotype frequencies and foetal sex ratio. (oregonstate.edu)
RESULTS: Here we show temporal correlations between Y-chromosomal haplotype frequencies and foetal sex ratios in the KNP buffalo population, suggesting SR genes. (oregonstate.edu)

For a given individual, there are nine possible configurations (haplotypes) at these two loci (shown in the Punnett square below). (wikipedia.org)
For individuals heterozygous at both loci, the gametic phase is ambiguous - in these cases, you do not know which haplotype you have, e.g. (wikipedia.org)
These unusual haplotypes could represent hemizygous loci resulting from intragenic deletions. (bmj.com)
Within the remaining samples, 42 contained rare haplotypes that appeared to arise from changes in one out of five SNP loci in exon 11, potentially indicative of a partial deletion of the exon. (bmj.com)

Mutation screening was carried out in the candidate gene by bi-directional sequencing of amplified products. (nih.gov)
Detection of DPY19L2 gene mutation in 2 cases of globozoospermia]. (nih.gov)
CEBPA gene mutation analysis in acute myeloid leukemia]. (cdc.gov)
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. (lu.se)

These results along with previous data with the VDR and MTHFR genes provide evidence for the strong correlation between genetics and osteoporosis in our population may be significant for treatment decisions and screening of osteoporotic patients. (qscience.com)
Here, we identified the red glume 1 (Rg-B1) gene using association genetics and haplotype analyses in ten reference grade wheat genomes. (tamu.edu)

Given the genotypes for a number of individuals, the haplotypes can be inferred by haplotype resolution or haplotype phasing techniques. (wikipedia.org)
In this approach, unphased SNP genotypes are compared to pairs of canonical haplotypes to identify potentially hemizygous regions. (bmj.com)

This discovery increased the likelihood that the unusual haplotype in this sample, and perhaps others in this group, were the result of intragenic deletions, and not just recombination. (bmj.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. (edu.au)

Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene. (molvis.org)
Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). (nih.gov)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
Some patients have mutations in the TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) gene. (msdmanuals.com)
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. (lu.se)

In functional assays, the promoter activities of the haplotypes -217A ≡ -6A and -217G ≡ -6G were significantly higher than the most common haplotype -217G ≡ -6A. (tmu.edu.tw)

Three polymorphic markers located within or near the MLH1 gene were selected for the analysis (table 1). (bmj.com)
Moreover, at multivariate analysis, the MTHFR 677T-1298A haplotype was an independent predictor of tumor regression. (unipd.it)
Population genomics and haplotype analysis in spelt and bread wheat identifies a gene regulating glume color. (tamu.edu)
This group was selected for molecular analysis because of its abundance, representing 18% of the unusual haplotypes. (bmj.com)

The HLA-DRB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (medlineplus.gov)

The association between daytime ambulatory systolic blood pressure and NOS3 haplotypes was mainly attributable to four haplotypes accounting for 11.9% of all represented haplotypes. (maastrichtuniversity.nl)

Patients not carrying the MTHFR 677T-1298A haplotype (odds ratio 0.29, 95% confidence interval 0.13-0.64, P=0.002) displayed a higher response rate than patients with the MTHFR 677T-1298A haplotype. (unipd.it)

CONCLUSION: We show for the first time a highly significant association of ambulatory blood pressure with NOS3 haplotypes in well-characterized white individuals from Flanders. (maastrichtuniversity.nl)
Results The data showed significance association between the XX haplotype of the XbaI in ERÎ± gene and lower BMD at the hip (P=0.012). (qscience.com)
New Evidence for the Association of the Serotonin Transporter Gene (SLC6A4) Haplotypes, Threatening Life Events, and Depressive Phenotype. (bvsalud.org)

Only five haplotypes were identified within the entire Amerindian study population, and the haplotype distribution was significantly different among the five tribes, with one (Arara) to four (Wayampf) haplotypes being found per tribe. (wayne.edu)

Haplotype comparisons across ten high-quality wheat genomes revealed a MYB transcription factor as candidate gene. (tamu.edu)
This cytokine differentially regulates two major HIV-1 coreceptors and activates viral expression, and is thus a reasonable candidate gene for analyses in HIV-1/AIDS cohort studies. (johnshopkins.edu)
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)
Future studies should dissect these functional, possibly interactive relationships of DYX2 candidate genes. (springer.com)

ABCA4- related retinal dystrophies have a major impact on quality of life and clinical interventions including stem cell therapy, gene replacement therapy, and pharmacological agents are currently being developed [ 21 ]. (nature.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)
Although some single genes have been implicated to play a causative role in SLE, current knowledge points toward a large number of genes being involved in a multifactorial-type inheritance pattern in most patients. (medscape.com)

An expectation maximisation based prediction algorithm was created to identify unusual haplotypes in patient samples that may be caused by small intragenic deletions. (bmj.com)
Several other samples were identified with haplotypes that may have been the result of intragenic deletions. (bmj.com)

In this work, we evaluated the distribution of these OPN haplotypes in 425 MS patients and 688 controls. (unict.it)
La présente analyse récapitule les facteurs pathologiques majeurs liant l'obésité au diabète, en se concentrant sur les données épidémiologiques actuelles relatives aux patients diabétiques obèses dans le monde arabe, l'étiologie de la maladie et les déterminants génétiques du diabète et de l'obésité. (who.int)

MHC class II genes provide instructions for making proteins that are present on the surface of certain immune system cells. (medlineplus.gov)

Our study demonstrates the value of multiple high-quality genomes to rapidly resolve copy number and haplotype variations in regions controlling agriculturally important traits. (tamu.edu)

Indeed, in some cases, HLA genes are more highly related to lupus-associated autoantibodies than to the disease itself. (medscape.com)

Each MHC class II gene has many possible variations, allowing the immune system to react to a wide range of foreign invaders. (medlineplus.gov)
Certain variations in the HLA-DRB1 gene have been linked to an increased risk of developing an autoimmune disorder called autoimmune Addison disease. (medlineplus.gov)
Variations in the HLA-DRB1 gene have been associated with an increased risk of developing multiple sclerosis. (medlineplus.gov)

Citrus specific genes for antimicrobial peptides, defense, volatile compounds and acidity regulation were identified. (qld.gov.au)

Here we show that in the presence of the risk haplotype, the expression of the KIAA0319 gene is reduced but the expression of the other two genes remains unaffected. (ox.ac.uk)
Using in situ hybridization, we detect a very distinct expression pattern of the KIAA0319 gene in the developing cerebral neocortex of mouse and human fetuses. (ox.ac.uk)
As expected, there were associations with known RD risk genes KIAA0319 and DCDC2 . (springer.com)

Clade here refers to a set of haplotypes sharing a common ancestor. (wikipedia.org)
A common haplotype of the TNF receptor 2 gene modulates endotoxin tolerance. (ox.ac.uk)
When the data were subdivided by menopausal status, we found statistical evidence of heterogeneity for two other common haplotypes (P value for heterogeneity = 0.016 and 0.045). (ox.ac.uk)
However, these could also be bona fide haplotypes that are too rare to be represented in the canonical set, resulting from recombinations between common haplotypes, or single base changes. (bmj.com)
The most common haplotype (AGC) was associated with a 23% reduction in risk (P = 0.03) compared with all other haplotypes combined. (cdc.gov)

However, the functional roles of IL-8 gene haplotypes have not been investigated. (nih.gov)
To test whether ATC/TTC haplotype is functional, we used a trans-well assay to measure the transmigration of primary neutrophils incubated with supernatants from the Poly I:C stimulation experiment. (nih.gov)
ATC/TTC haplotype cells significantly increased transmigration of neutrophils confirming the functional role for this IL-8 haplotype. (nih.gov)

They found that specific MLH1 haplotypes were associated with the presence and family history of the disease in both CD and UC. (bmj.com)
A particular HLA-DRB1 gene variant called HLA-DRB1*04:04 is the most well-known risk factor for autoimmune Addison disease. (medlineplus.gov)
So, these people are likely to be at higher risk of cardiovascular or kidney disease compared to the other investigated haplotypes. (ephysician.ir)

2009): Haplotype divergence in Beta vulgaris and microsynteny with sequenced plant genomes. (boku.ac.at)

However, coalescent simulations suggest greater haplotype diversity among African Americans than expected. (johnshopkins.edu)

Similarly the PP haplotype of PvuII ER Î± gene was significantly associated with lower hip BMD ( P=0.03). (qscience.com)

Haplotype-A homozygotes had about 1.5 lower risk of developing MS than non-AA subjects. (unict.it)
For instance, aberrant splicing of WT1 , a pivotal cancer suppressor gene, increased the risk of Wilms tumor [ 8 ]. (jcancer.org)
[ 16 ] More commonly, a low gene copy number of C4 is seen as a risk factor for SLE, whereas a high copy number of C4 is protective against SLE. (medscape.com)

Diseases1

Chemicals and Drugs7

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology1

Phenomena and Processes16

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups2

Health Care2

Polymorphisms28

Genotype8

Polymorphism11

Variants10

Susceptibility5

Variation9

Locus4

Chromosomes2

SNPs1

Linkage6

Chromosome9

Genomic3

Frequency3

Genome3

Allele2

Alleles4

Different haplotypes2

Specific haplotype1

Certain haplotypes1

Frequencies2

Loci4

Mutation4

Genetics2

Genotypes2

Recombination1

Sequence1

Mutations6

Promoter1

Analysis4

Human leukocy1

Attributable1

MTHFR1

Association3

Population1

Candidate4

ABCA41

Single genes2

Deletions2

Patients2

Proteins1

Study1

Autoantibodies1

Variations3

Regulation1

KIAA03193

Common5

Functional3

Disease3

Plant1

Diversity among1

0.031

Risk3