Europeans gene alleles alleles with haplotype haplotypes. Medical search. Frequent questions

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)
PMID 15124004 ] Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families. (snpedia.com)
Using 1000 Genomes Project haplotypes, we identified a total of 4069 full-length polypeptide variants encoded by these OR loci, average of ~10 per locus, constituting a lower limit for the effective human OR repertoire. (biomedcentral.com)
A widely accepted working hypothesis is that allelic variants of OR genes may harbor different functional characteristics and hence, may generate different odorant sensitivity phenotypes in different members of the human population [ 16 - 18 ]. (biomedcentral.com)
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)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. (ox.ac.uk)
Persistent infection with oncogenic types of human papillomavirus (HPV) is the major risk factor for invasive cervical cancer (ICC), and non-European variants of HPV-16 are associated with an increased risk of persistence and ICC. (biomedcentral.com)
We characterized HPV-16 variants by PCR in 107 ICC cases, which were typed for HLA-DQA1 , DRB1 and DQB1 genes and compared to 257 controls. (biomedcentral.com)
European (E), Asian-American (AA) and African (Af) variants were identified. (biomedcentral.com)
Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). (wustl.edu)
We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization. (wustl.edu)
GWAS was performed using haplotype reference consortium(HRC)-imputed genotypes of common variants in 3,514 individuals from the first and 2,076 individuals from the second cohort of the Rotterdam Study. (frontiersin.org)
We additionally performed exome-sequencing analysis in 960 individuals to investigate rare variants in candidate genes. (frontiersin.org)
We performed additional in silico analyses to identify more evidence for the associated variants and genes in relation to the plasma MPO-DNA complex levels. (frontiersin.org)
Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)

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 distributions of C11 and its parental haplotypes make it most likely that these two last steps occurred between the Middle East and the Indian subcontinent, with the A111T mutation occurring after the split between the ancestors of Europeans and East Asians. (blogspot.com)
The parental haplotypes causing for this mutation are also found in Americas and East Asians. (blogspot.com)
Early Europeans spread eastward and became the ancestors not only of the Amerindians but also of East Asians. (blogspot.com)
It's widely accepted that the ancestors of Europeans and East Asians parted company long after modern humans had begun spreading out of Africa. (blogspot.com)
So the first Europeans were also the first East Asians. (blogspot.com)

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)
There was no significant difference in allele and genotype frequencies of +276G>T between type T2DM patients and controls. (who.int)
Hepatocellular Carcinomas from Iran: Evidence study of lung cancer among European asphalt carcinoma among postmenopausal women in the for Lack of Association between HBV Genotype workers. (who.int)

The genotypes of T. gondii strains isolated from Brazil were tions of the same alleles seen in the clonal types, which highly divergent when compared to the previously indicates that recombination occurs infrequently in the described clonal lineages. (cdc.gov)
The comparative analysis of polymorphisms between susceptible and resistant genotypes revealed five major haplotypes. (ucdavis.edu)
The genotypes of two nonsynonymous coding single-nucleotide polymorphisms in TAS2R38 were assayed for 176 schizophrenia patients and 229 healthy control individuals, and the two-allele haplotypes were estimated. (johnshopkins.edu)

The polymorphism was present as an insertion in cells derived from a group of Japanese individuals, but was completely absent (a deletion) in others, albeit with a lower frequency (hence called the minor allele). (fatsoflife.com)
This genetic variant, termed an indel (insertion/deletion mutation), was found to influence the regulation of the expression levels of both FADS-1 and FADS-2 in a cellular system, with the minor allele in Japanese people being associated with lower expression of the FADS-1 and FADS-2 genes. (fatsoflife.com)
The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. (ox.ac.uk)

SNP-based GWASs cannot capture the intense polymorphism of HLA genes, highly associated with disease susceptibility. (bvsalud.org)

The haplotype without mutations was more common in Kyrgyz (40.1% in Kyrgyz, 29.3% in Romanians). (aacrjournals.org)
Rare alleles and mutations that impart a moderate risk of SLE remain undiscovered and cannot be found by GWAS. (medscape.com)

Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study. (snpedia.com)
PMID 17482701 ] No associations exist between five functional polymorphisms in the catechol-O-methyltransferase gene and schizophrenia in a Japanese population. (snpedia.com)
Studies on polymorphisms found in one cluster of closely-located genes coding for fatty acid desaturases (FADS), enzymes that play an important role in the biosynthesis of both omega-6 and omega-3 LCPUFA, are providing an interesting perspective on the interaction between traditional diets and the population genetic history of humans. (fatsoflife.com)
None of these small polymorphisms can be clearly assigned to changes in the amino acid sequence of the FADS enzymes, and are believed to mostly influence the regulation of gene expression. (fatsoflife.com)
We conducted pooled and meta-analyses of the association of the calpain-10 gene (CAPN10) polymorphisms SNP-43, Indel-19 and SNP-63 individually and as haplotypes with type 2 diabetes (T2D) in 3237 patients and 2935 controls of European ancestry. (northwestern.edu)

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)

Mya arenaria from sites in Europe and eastern and western North America were investigated for genetic variation using both mitochondrial (cytochrome oxidase I (COI) and 16S ribosomal RNA genes) and nuclear markers (10 microsatellite loci). (ucc.ie)
The pooled and meta-analyses as well as the linkage disequilibrium and haplotype diversity studies suggest a role for genetic variation in CAPN10 affecting risk of T2D in Europeans. (northwestern.edu)

We evaluated the accuracy of the 1000 Genomes data as a reference panel for imputing HLA from admixed individuals of African and European ancestries, focusing on (a) the full dataset, (b) 10 replications from 6 populations, and (c) 19 conditions for the custom reference panels. (bvsalud.org)
We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. (ox.ac.uk)

Cell-surface receptors are often characterized by several haplotypic alleles in the population, sometimes with different functional properties. (biomedcentral.com)
Our data demonstrate a significant target population, complete mutant specificity, decent targeting efficiency in patient-derived cells, and minimal off-target effects on protein-coding genes, proving the concept of PAS-based allele-specific NMD-CRISPR/Cas9 and supporting its therapeutic potential in HD. (jci.org)
High-producer allele 308A as well as high-producer haplotypes AA is significantly less common in a Zimbabwean population than in a European population. (bmj.com)
We found that the lineages that rarely occur in European populations are exclusively established in a population near the Arctic frontier. (springer.com)
The population frequency of the indel (rs66698963) is remarkably different among human populations with the insertion being far more frequent in South Asians, Africans and some East Asian populations, and far less common in European and other East Asian populations. (fatsoflife.com)
The population frequency of the allele corresponding to the rs66698963 insertion (allele named I) or deletion (allele named D) was determined from genomic DNA extracted from human samples (blood, breast milk, and placenta) obtained from several participating institutions in the US and Canada (n=211, nearly all from Kansas City), as well as from a group of Asian Indians (n=76). (fatsoflife.com)
the initial stages of European skin lightening occurred in a proto-Eurasian population, about 30,000 years ago, after the out-of-Africa migration ~60,000-70,000 years ago […] and slightly more recently than the earliest archaeological evidences for the dispersal of anatomically modern humans in Europe, around 40,000 years ago (Beleza et al. (blogspot.com)
NGS of prolonged HLA gene sections continues to be applied effectively in population-based and trait-association research to recognize allelic variations in non-coding areas, and to attain mainly unambiguous HLA genotyping (28C31). (roma2024.com)
Population genomics and haplotype analysis in spelt and bread wheat identifies a gene regulating glume color. (tamu.edu)
Nonetheless, carriage of specific alleles of HLA imparts about a 2-fold risk of SLE above that of the general population. (medscape.com)

5% haplotype frequency). (dokumen.tips)
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)

Most ously characterized clonal lineages from North America and Europe. (cdc.gov)
Reference strains consisted of representative members of Brazilian T. gondii strains with multiple markers of the 3 clonal lineages originally isolated from human or showed that most strains contain both type I and III alleles animal infections in North America and Europe. (cdc.gov)
Some people speculate that early Europeans reached North America by crossing the Atlantic. (blogspot.com)

This locus was designated Yr78, an adult plant resistance and non-race specific gene. (ucdavis.edu)
Both independent mechanisms reduce SLC16A11 function and suggest SLC16A11 is the causal gene at this locus. (wustl.edu)

Later, Dang et al (3) produced a higher resolution map of Yr78 and mapped it within a 0.05-cM interval that corresponds to an 11.16 Mb region between loci TraesCS6B02G116200 and TraesCS6B02G118000 in the "Chinese Spring" genome (RefSeq v1.1), which contains 15 genes. (ucdavis.edu)
Access to pan-genome information greatly facilitates the assessment of structural variations and rapid candidate gene identification. (tamu.edu)

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)
To gain insight into when and where this mutation arose, we defined common haplotypes in the genomic region around SLC24A5 across diverse human populations and deduced phylogenetic relationships between them. (blogspot.com)

In this scholarly study, we record the analyses of HLA haplotypes and alleles, described using high-resolution NGS, connected with safety and susceptibility to EOMG and LOMG in Italian, Norwegian, and Swedish cohorts. (roma2024.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)
In the pooled analyses, the common SNP-43*G allele was associated with modest but statistically significant increased risk of T2D (odds ratio (OR) = 1.11 (95% confidence interval (CI), 1.02-1.20), P = 0.01). (northwestern.edu)

tritici, the causative agent of stripe rust, appeared in different world locations with a more aggressive virulence profile, and they rendered many resistance genes ineffective. (ucdavis.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)

Both mitochondrial CO1 and all nuclear markers showed reduced levels of variation in certain European samples, with significant differences in haplotype and allelic composition between most samples, particularly those from the two different continents, but with the same common haplotypes or alleles throughout the range. (ucc.ie)
Phenylthiocarbamide (PTC) taste sensitivity is an inherited trait determined primarily by allelic variation of the tastereceptor gene TAS2R38 on chromosome 7q. (johnshopkins.edu)

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 derived light skin color allele of the SLC24A5 gene, A111T, predominates in populations of Western Eurasian ancestry. (blogspot.com)
Virtually all chromosomes carrying the A111T allele share a single 78-kb haplotype that we call C11, indicating that all instances of this mutation in human populations share a common origin. (blogspot.com)
Positive Selection of an Indel Polymorphism in the FADS Gene Cluster May be Driving Long-Chain PUFA Biosynthetic Capacity in Specific Human Populations. (fatsoflife.com)
Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. (wustl.edu)
In the left pops, apart from test group Steppe_EMBA (Early Middle Bronze Age steppe conglomerate made up of closely related Afanasievo, Poltavka and Yamnaya samples), we have the putative ancestral populations: Eastern European Hunter-Gatherers (EHG), Caucasus Hunter-Gatherers (CHG), Kura-Araxes (Armenia_EBA), a Chalcolithic Anatolian (Anatolia_ChL), Chalcolithic Armenians (Armenia_ChL), and/or Chalcolithic farmers from Iran (Iran_ChL). (blogspot.com)
For everyone three populations, alleles and haplotype blocks in the ancestral haplotype AH8 present.1 were connected with risk in AChR-EOMG sufferers. (roma2024.com)
Furthermore, the email address details are in keeping with a job for non-coding HLA hereditary variations in the pathogenesis of MG. ancestral haplotype, known as AH8 also.1 (19), or particular alleles which lay upon this haplotype have already been found to become strongly connected with AChR-MG and EOMG in a number of Western european populations (20C24). (roma2024.com)
These research highlight the hereditary heterogeneity in HLA alleles predisposing to different sets of MG among different populations. (roma2024.com)

Several SNPs located in the FADS gene cluster are now known to be related to changes in risk for complex and chronic diseases. (fatsoflife.com)
5.0 × 10 −6 ) of SNPs annotated to four genes. (frontiersin.org)

In 2012, a much larger, 22-base pair long stretch of nucleotides was identified within a part of the FADS-2 gene that is not translated to protein (an intron). (fatsoflife.com)
The capital letters indicate the VIC and FAM tails, IWA7257_Rev_A_VIC is the primer specific for QYr.ucw - 6B and the allele-specific nucleotides are shown in bold. (ucdavis.edu)
The primers labelled with VIC are Yr78 specific, and the allele-specific nucleotides are shown in bold. (ucdavis.edu)

We observed similar proportions of HLA DRB1*1302 carriers in E-P positive cases and controls, but interestingly, this allele was not found in AA cases (p = 0.03, Fisher exact test). (biomedcentral.com)

But, baked into the cake of how genetics in complex organisms usually works, one allele may often have multiple downstream consequences. (discovermagazine.com)

Comprehensive sequence/haplotype analysis identified SNP-generated NGG PAM sites on exons of common HTT haplotypes in HD subjects, revealing a clinically relevant PAS-based mutant-specific CRISPR/Cas9 strategy. (jci.org)
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)
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)
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)

European skin turned white long after modern humans had entered Europe (c. 40,000 BP). (blogspot.com)
This point may have broader repercussions because some have argued that the rapidity of evolution among modern humans required "cherry picking" of useful alleles from Neanderthals and other archaic hominins. (blogspot.com)
If we are to believe Beleza et al (2012), it must have happened after the entry of modern humans into Europe. (blogspot.com)

The distributions of predicted haplotypes differed significantly between the two ethnicities where the Kyrgyz showed a higher genetic diversity. (aacrjournals.org)
For AChR-LOMG sufferers, the haplotype and associated alleles were connected with susceptibility in every groups significantly. (roma2024.com)

Nrf2 activates transcription of antioxidant enzymes by binding to the antioxidant response element (ARE) in the promoter regions of its target genes [ 23 , 24 ]. (hindawi.com)
Upon exposure to ROS, Keap1 undergoes a conformational change that allows Nrf2 to translocate to the nucleus, bind to the ARE region, and initiate transcription of target genes [ 24 ]. (hindawi.com)
Oxidized Keap1 dissociates from Nrf2, allowing Nrf2 to translocate to the nucleus, bind to the ARE region, and initiate transcription of target genes. (hindawi.com)
RIViT-seq technology could speed up associating transcription factors with their target genes. (doe.gov)

In my opinion, despite the relatively low resolution of the X chromosome analysis, the Steppe_EMBA X chromosomes show a strong southern, in particular CHG, character, which suggests that CHG admixture into Steppe_EMBA was mediated largely via female gene flow. (blogspot.com)

Although it cannot identify the alpha ".5" chain of HLA DQ, DQA1*05:01 gene is almost always found within the DR3-DQ2 haplotype Eurasia (however in older studies DQA1*05:05 is commonly confused with DQA1*05:01) DR3 is genetically linked to HLA-DR52, DRB3*02:02 allele, and HLA-DQ2 (DQ2.5). (wikipedia.org)
The two parental precursor haplotypes are found from East Asia to the Americas but are nearly absent in Africa. (blogspot.com)
Out of these, the H1 haplotype, which likely originated in the European spelta wheats, was found associated with Yr78 . (ucdavis.edu)
This haplotype was found in approximately 30% of the hexaploid cultivars scanned, but not in any of the tetraploid wheat lines analyzed (3). (ucdavis.edu)
In this first GWAS and exome-sequencing analysis of NETs levels, we found several genes that were associated with NETs. (frontiersin.org)
The haplotype as well as the allele had been found to become connected with LOMG in two cohorts (25, 26). (roma2024.com)
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)
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)

We report on retinal disease progression in homozygous patients, providing valuable allele-specific insights. (nature.com)

Falsely infer that A1 allele is risk-factor for Roman Catholicism. (dokumen.tips)

Amyotrophic lateral sclerosis type 6 (ALS6) is a familial subtype of ALS linked to Fused in Sarcoma (FUS) gene mutation. (bvsalud.org)
Taking the 12.4ky estimate and multiplying by two (for the slower autosomal mutation rate) yields an estimate of 25ky, so it seems that this allele did not accompany the earliest modern human colonists of West Eurasia but emerged in some region and spread from there. (blogspot.com)
The C11 haplotype was most likely created by a crossover between two haplotypes, followed by the A111T mutation. (blogspot.com)
But than we still don't know when exactly this mutation took place it could very well be that the West Eurasian admixture Amerindians got stems from a time when West Eurasian still hadn't developed this light skin allele. (blogspot.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)
Detection of allele A and /or G at the 308 position in the promoter region of the TNF-α gene was carried out using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. (bmj.com)

Alternative allele of rs363099 (29th exon) eliminates the NGG PAM site on the most frequent normal HTT haplotype in HD, permitting mutant-specific CRISPR/Cas9 therapeutics in a predicted ~20% of HD subjects with European ancestry. (jci.org)
Sardinian Y-chromosome distribution looks more Neolithic than CEU's if anything (high R1b-V88, I2, G2), I doubt their male-biased ancestry relative to CEU or other continental Europeans would have been detected from uniparentals as solidly as from X-autosome difference with D-stats. (blogspot.com)
There was an overrepresentation of the major PTC nontaster haplotype among patients of European descent, relative to control individuals of similar ancestry. (johnshopkins.edu)

analyze sequence deviation at eleven HLA genes in early-onset (EO) and late-onset (LO) non-thymomatous MG sufferers positive for the acetylcholine receptor (AChR) antibodies and ethnically matched up handles from Italy, Norway, and Sweden. (roma2024.com)

PMID 15098000 ] COMT haplotypes suggest P2 promoter region relevance for schizophrenia. (snpedia.com)

Low recombination rates were observed in this segment, possibly due to the presence of the un-assembled nucleolus organizer NOR-B2 region within the Yr78 candidate gene region. (ucdavis.edu)
Haplotype comparisons across ten high-quality wheat genomes revealed a MYB transcription factor as candidate gene. (tamu.edu)

Dopamine genes and schizophrenia: case closed or evidence pending? (snpedia.com)

The data used in the study were obtained in individuals of European descent. (plos.org)

This study reports a 22-bp nucleotide insertion-deletion (indel) genetic polymorphism that may be causally related to the control of gene expression of the fatty acid desaturases, enzymes that control the biosynthesis of long-chain polyunsaturated fatty acids (LCPUFA) from 18-carbon PUFA. (fatsoflife.com)

The authors developed two molecular markers for the H1 haplotype that can be used for breeding programs (see next section). (ucdavis.edu)
Pathway analysis of the identified genes showed their involvement in cellular development, molecular transport, RNA trafficking, cell-to-cell signaling and interaction, cellular growth and proliferation. (frontiersin.org)

Our rs363099-based CRISPR/Cas9 showed perfect allele specificity and good targeting efficiencies in patient-derived cells. (jci.org)
In addition, GUIDE-Seq analysis and subsequent validation experiments support high levels of on-target gene specificity. (jci.org)

Dramatically reduced mutant HTT mRNA and complete loss of mutant protein suggest that our allele-specific CRISPR/Cas9 strategy inactivates mutant HTT through NMD. (jci.org)
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)
[ 1 ] The protein products of the HLA genes are critical components of cell-to-cell communication in the immune system. (medscape.com)
E7 from human papil omavirus type 16 cooperate to cancer: the European prospective investigation into doi:10.1093/carcin/bgp321 PMID:20047954 target the PDZ protein Na/H exchange regulatory cancer and nutrition study. (who.int)

Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. (wikipedia.org)
PMID 16027741 ] Catechol-O-methyltransferase haplotypes are associated with psychosis in Alzheimer disease. (snpedia.com)
African-Americans have higher rates of kidney disease than European-Americans. (discovermagazine.com)
Cancer was the top disease linked to the NET-associated genes. (frontiersin.org)
Indeed, in some cases, HLA genes are more highly related to lupus-associated autoantibodies than to the disease itself. (medscape.com)

Next-generation sequencing (NGS) can be an appealing choice for variant characterization of HLA genes because of its comparatively low priced, high-accuracy and impartial variant finding. (roma2024.com)

AIH usually develops in individuals with a genetic background mainly consisting of some risk alleles of the major histocompatibility complex (HLA). (wjgnet.com)
INTRODUCTION: Apolipoprotein E (APOE) Îµ4 allele has been associated with higher carotid atherosclerosis risk, while the APOE-Îµ2 seems to decrease this risk. (bvsalud.org)
We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. (wustl.edu)
was the dominant risk allele in Italians (OR = 3.28, = 1.83E?05), Norwegians (OR = 3.52, = 4.41E?16), and in Swedes was the principal risk allele (OR = 4.24, P 2.2E-16). (roma2024.com)
[ 3 ] 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)

Homozygosity for allele 308A is very rare. (bmj.com)
The appearance of certain unique rare haplotypes and microsatellite alleles in the European samples suggest a complicated origin involving North American colonization but also possible southern European Pleistocene refugia. (ucc.ie)

The distributions of C11 and its parental haplotypes make it most likely that these two last steps occurred between the Middle East and the Indian subcontinent,' Looks to me more like between West Asia (minus Arabia) and western part of South_Central Asia (minus India). (blogspot.com)

The PTC nontaster haplotype is a genetic marker that may be used to identify subsets of schizophrenia patients who potentially harbor vulnerability genes in this region of chromosome 7q. (johnshopkins.edu)

We used genotyping-by-sequencing to characterize a global diversity panel of 267 spelt accessions, which provided evidence for two independent introductions of spelt into Europe. (tamu.edu)

A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. (snpedia.com)
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. (snpedia.com)

There was no statistically significant difference in the distribution of the low (G) or high (A) producer alleles at position 308 of the TNF-α gene between patients with cervical cancer and healthy women. (bmj.com)
The high producer haplotype AA was identified in only one patient with cervical cancer and two healthy women. (bmj.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)
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)

For VVs, we used GWAS data obtained in the FinnGen project (N = 128,698), the eMERGE network (phase 3, N = 48,429), and the UK Biobank data available in the Gene ATLAS (N = 452,264). (plos.org)

The cloning of agriculturally important genes is often complicated by haplotype variation across crop cultivars. (tamu.edu)

Therefore, we investigated the association between APOE alleles and direct morphometric measurements of carotid atherosclerosis in an autopsy study with an admixed sample. (bvsalud.org)
5%) to breast cancer in a case-control study (1,588 cases/2,600 controls) nested within the European Prospective Investigation into Cancer and Nutrition. (ox.ac.uk)
Nevertheless, previous studies had been limited by the tiny amount of HLA genes interrogated in one study, and limited insurance coverage of genes. (roma2024.com)
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)
An international expert committee appointed by the ADA, the European Association for the Study of Diabetes, and the International Diabetes Association recommended the HbA 1c assay for diagnosing type 1 diabetes only when the condition is suspected but the classic symptoms are absent. (medscape.com)

Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. (doe.gov)
One of these loci, designated QYr.ucw - 6B , mapped on chromosome 6B in a different location from other known stripe rust resistance genes (2). (ucdavis.edu)

We evaluated the association between APOE groups and carotid atherosclerosis using adjusted regression models and included interaction terms of APOE alleles with age, sex, and race. (bvsalud.org)
Gene-gene interaction is beginning to be explored. (medscape.com)

Diseases6

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Phenomena and Processes23

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10002

Population10

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Analyses3

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