Causal susceptibility alleles. Medical search. Frequent questions

Dr. Wilhelmsen's laboratory is engaged in the genetic mapping of susceptibility loci for complex traits such as addiction and the positional cloning of genes responsible for neurodegenerative disorders. (unc.edu)
The Wilhelmsen group has been using linkage analysis to map susceptibility loci and determine the phenotype that segregates with the alternative alleles for these loci. (unc.edu)
Finally, utilizing a Mendelian randomization approach, we identify the causal route by which 305 risk loci contribute to autoimmune disease at the cellular level. (iscb.org)
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (bioseek.eu)
Twelve obesity-susceptibility loci were genotyped or imputed in 111,421 participants. (lu.se)
In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. (kb.se)
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. (research.com)
In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. (scielo.br)
En ese sentido, existe un creciente enfoque en la identificación de genes, polimorfismos genéticos asociados y loci de susceptibilidad múltiples. (scielo.br)
Our results show that the standard approach is well powered to detect known malaria susceptibility loci when sample sizes are large, and that modern methods for association analysis can control the potential confounding effects of population structure. (ox.ac.uk)
Together, these loci provide genetic insight into underlying disease processes in rosacea as a combination of skin type and susceptibility to inflammation. (genomelink.io)
Further work will be needed to identify and replicate causal variants within associated loci and to assess functional variants identified as possible therapeutic targets. (genomelink.io)
Genome-wide association studies have identified more than 100 genetic loci for SLE susceptibility across populations, with most of the genetic risk shared across borders and ethnicities. (medscape.com)
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. (who.int)

The common disease-common variant (often abbreviated CD-CV) hypothesis predicts that common disease-causing alleles, or variants, will be found in all human populations which manifest a given disease. (wikipedia.org)
According to the CD-CV hypothesis, some of those variants lead to susceptibility to complex polygenic diseases. (wikipedia.org)
The hypothesis has held in the case of putative causal variants in apolipoprotein E, including APOE ε4, associated with Alzheimer's disease. (wikipedia.org)
These polymorphisms have been valuable as genomic signposts, or "markers", in the search for common variants that influence susceptibility to common diseases. (wikipedia.org)
Fine-mapping the HOXB region detects common variants tagging a rare coding allele: evidence for synthetic association in prostate cancer. (ox.ac.uk)
Additional genotyping, conditional regression and haplotype analyses indicated that the newly identified common variants tag a rare, partially correlated coding variant in the HOXB13 gene (G84E, rs138213197), which has been identified recently as a moderate penetrance PrCa susceptibility allele. (ox.ac.uk)
However, none of the six confirmed breast cancer susceptibility variants we tested was associated with ovarian cancer risk. (escholarship.org)
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. (kb.se)
IMPACT: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. (ox.ac.uk)
The higher allele frequencies of deleterious founder variants increases the statistical power for detecting disease associations. (nature.com)
Minor allele frequencies of rare variants across European and African cohorts. (indexedjournals.info)
Bars show MAF of the 25 rare variants reported to be causal for IBD by Sazonovs et al. (indexedjournals.info)
At this stage, we cannot exclude the Tg region as harboring a susceptibility locus for AITD, and only large scale sequencing and fine mapping of the region, including neighboring genes, will allow us to identify any potential causal variants within this region. (ox.ac.uk)
Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. (elsevierpure.com)
however, studies exploring causal host genetic variants in IDs are still limited and dramatically skewed with regard to population inclusion. (edu.qa)
A 6.22-Mb region between rs13477999 and D4Mit32, not previously known to contain a locus affecting T1D susceptibility and now designated Idd25, was found to contain the main NOR gene(s) dampening diabetogenic B cell activity, with Ephb2 and/or Padi2 being strong candidates as the causal variants. (mcw.edu)
This paper provides a brief presentation on the genetics of multiple sclerosis susceptibility and on current work that uncovers the cellular effects, immunological and non-immunological, associated with genetic risk variants. (researchgate.net)
Although there has been much success in identifying genetic variants associated with common diseases using genome-wide association studies (GWAS), it has been difficult to demonstrate which variants are causal and what role they have in disease. (researchgate.net)
Interpretation We identified common variants near FOXF2 that are associated with increased stroke susceptibility. (uai.cl)
Searching for the causal variants for psoriasis at the MICA/HLA-B locus. (utah.edu)
Several recent genome-wide association studies (GWAS) have identified variants that may affect susceptibility to infectious diseases, demonstrating the potential value of GWAS in this arena. (biomedcentral.com)

At UCSF, he established a clinical and laboratory program to identify addiction susceptibility genes. (unc.edu)
There are few conditions where there is a genetic susceptibility that shows more complex interactions between genes and the environment than addiction. (unc.edu)
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)
La presente revisión destaca los genes y polimorfismos genéticos actualmente estudiados, identificados como influyentes en la génesis de la EI, como los genes MMP-3, IL-6, colágeno tipo 1 y receptores de vitamina D y de estrógeno. (scielo.br)
Preliminary screen of the susceptibility genes associated with the pathogenesis of primary biliary cholangitis in east Zhejiang]. (cdc.gov)
Autoimmune type 1 diabetes (T1D) in humans and NOD mice results from interactions between multiple susceptibility genes (termed Idd) located within and outside the MHC. (mcw.edu)
Despite sharing ∼88% of their genome with NOD mice, including the H2(g7) MHC haplotype and other important Idd genes, the closely related nonobese resistant (NOR) strain fails to develop T1D because of resistance alleles in residual genomic regions derived from C57BLKS mice mapping to chromosomes (Chr. (mcw.edu)
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)
Hunting for head and neck cancer susceptibility genes by exome sequencing. (utah.edu)
These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)

Interestingly, we found the T allele of rs1063843, which is associated with lower expression level of CAMKK2, has a higher frequency in individuals with schizophrenia in all of the tested samples, suggesting rs1063843 may be a causal variant. (nih.gov)
Further work will be needed to identify the causal variant associated with rs4954956 or elucidate its function. (escholarship.org)
A genetic risk score (GRS) was calculated by summing the BMI-associated alleles of each genetic variant. (lu.se)
To directly establish the causal role of OPRM1 A118G variation, we generated two humanized mouse lines, carrying the respective human sequence variant. (psu.edu)
The latter variant may be protective since the minor allele frequency is 4.5% in both the AA-WGS controls and gnomAD African ancestry sample, but just 4.1% in the AA-WGS cases. (indexedjournals.info)
A further rare variant in PTGER4 , the gene with the highest common variant effect specifically in African Americans [ 22 ], may also be a risk allele in African ancestry individuals alone since it is also absent from Europeans, though it too is also slightly higher frequency in gnomAD. (indexedjournals.info)
Recently, a variant of exon 3 (rs1143679) of ITGAM was found to be associated with susceptibility to SLE and LN in several ethnic groups including oriental Chinese and Thai populations. (acrabstracts.org)
To localize the underlying causal variant, linkage equilibrium (LD) analysis was examined among these 13 SNPs which were located in a strong LD block (r 2 =0.92-1.0), and the conditional association could not be applied to further distinguish the independent association in our SLE cohort. (acrabstracts.org)
By analysing MS GWAS data in conjunction with the 1000 Genomes Project data we provide genetic evidence that strongly implicates this SNP, rs1800693, as the causal variant in the TNFRSF1A region. (researchgate.net)
The variant rs16891982 in the solute carrier family 45 member 2 gene (SLC45A2), which encodes a transporter protein that mediates melanin synthesis, demonstrated an association between the G allele and increased symptom severity. (genomelink.io)

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)
Her Allele research is multidisciplinary, incorporating perspectives in Genotype and Locus. (research.com)
Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. (ox.ac.uk)
CONCLUSION: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. (ox.ac.uk)
Association of specific alleles of microsatellite markers within Tg itself supports a role for Tg as a good candidate susceptibility locus for AITD. (ox.ac.uk)

the at-risk allele has a frequency of 93% in the general population[citation needed]. (wikipedia.org)
African ancestry was consistently associated with higher serum IgA levels and greater frequency of IgA-increasing alleles compared to other ancestries. (scilifelab.se)
In the general population there are smokers, workers exposed to asbestos, and individuals with genetic susceptibility, with hypothetical attributable risks in the order of 90% (smoking), 5% (asbestos in some populations), and 12% (hypothetical estimate for GSTM1, based on a relative risk of 1·3 and a frequency of 50% of the null genotype). (cdc.gov)
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 Human leukocyte antigen study combines topics in areas such as Haplotype, Genotyping, Allele frequency and Asymptomatic. (research.com)
As a part of the same scientific study, she usually deals with the Allele frequency, concentrating on Mortality rate and frequently concerns with Genome-wide association study. (research.com)
The final file used for calculating allele frequency contained 6,047 subjects. (edu.qa)
Nevertheless, the G allele frequency in our controls was similar to that in the HapMap database. (signsin1dayinc.com)

No differences were observed in genotype prevalence or minor allele frequencies between persons with fatal influenza and the reference sample. (cdc.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)

Nonetheless, carriage of specific alleles of HLA imparts about a 2-fold risk of SLE above that of the general population. (medscape.com)

In contrast, selection in SNPs associated with CD favors protective alleles. (blogspot.com)
Regarding the protective alleles, 3 of 4 with measurable effects are also nominally protective in African Americans, the exception being P1104A in TYK2 . (indexedjournals.info)

A logical extension of this work is to develop the ability to perform genome-wide association analysis, which is being used to identify common sequence variations that affect susceptibility to neurodegeneration. (unc.edu)

All the 13 SNPs of ITGAM were associated with increased susceptibility to SLE. (acrabstracts.org)

We show that pattern of association around the haemoglobin S allele differs substantially across populations due to differences in haplotype structure. (ox.ac.uk)

Benedicte A. Lie mainly focuses on Genetics, Immunology, Human leukocyte antigen, Allele and Single-nucleotide polymorphism. (research.com)
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics 1 . (nature.com)

Mendelian randomization supported elevated serum IgA as a causal factor in IgA nephropathy. (scilifelab.se)
We subsequently performed a Mendelian Randomisation (MR) study to test if there was any causal effect. (medrxiv.org)

We find alleles increasing susceptibility to Type 1 Diabetes (T1D), Rheumatoid Arthritis (RA), and Crohn's Disease CD) underwent recent positive selection. (blogspot.com)

In this study, we aimed to examine the association between vitamin D and COVID-19 risk and outcomes, and to explore potential causal effects. (medrxiv.org)

DESCRIPTION (provided by applicant): The progesterone receptor gene (PGR) is a strong candidate gene for invasive epithelial ovarian cancer (ovarian cancer) susceptibility based on both experimental and epidemiologic observations. (cancer.gov)
This application seeks to narrow down the 90 kb genomic region of the PGR which harbors an ovarian cancer susceptibility allele(s). (cancer.gov)
This association was stronger for the serous histological subtype [per minor allele odds ratio (OR) 1.07 95% CI 1.01-1.13, P-trend = 0.02 for all types of ovarian cancer and OR 1.14 95% CI 1.07-1.22, P-trend = 0.00017 for serous ovarian cancer]. (escholarship.org)
women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations 3 . (elsevierpure.com)

The various areas that Benedicte A. Lie examines in her Allele study include Odds ratio and Genotype. (research.com)

This variation is related to genetic susceptibility for alcoholism, which contributes more than half of alcoholism risk. (psu.edu)
the excess will increase if we add other types of genetic susceptibility, other environmental risk factors, or both. (cdc.gov)
The attributable risk in excess of 100% is due to the fact that we count twice, in the population, factors that contribute together to a sufficient causal complex in the single individual. (cdc.gov)
Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. (kb.se)
These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention. (kb.se)
We further substantiate this through functional studies showing that the MS risk allele directs expression of a novel, soluble form of TNFR1 that can block TNF. (researchgate.net)
The discriminatory ability of the combined SNP information was assessed by grouping individuals based on number of risk alleles carried and determining relative odds of type 2 diabetes and by calculating the area under the receiver-operator characteristic curve (AUC). (diabetesjournals.org)
RESULTS- Individuals carrying more risk alleles had a higher risk of type 2 diabetes. (diabetesjournals.org)
24 risk alleles had an odds ratio of 4.2 (95% CI 2.11-8.56) against the 1.8% with 10-12 risk alleles. (diabetesjournals.org)
Besides, our results indicated that the individuals with G allele have a reduced RCC risk in non-smokers. (signsin1dayinc.com)
Cigarette smoking is the most consistently established causal risk factor for RCC, accounting for approximately 20 of cases of RCC [38]. (signsin1dayinc.com)

These data suggest that the recently identified single nucleotide polymorphisms do not have a causal role for AITD in the UK. (ox.ac.uk)

Although a defect in the chemokine receptor CX3CR1 increases susceptibility of mice and humans to systemic candidiasis, it does not in mucosal candidosis. (medscape.com)
5â€ˆÃ-â€ˆ10 âˆ'8 ), we explored associations with additional cerebrovascular phenotypes and did functional experiments using conditional (inducible) deletion of the probable causal gene in mice. (uai.cl)

The human immune system displays remarkable variation between individuals, leading to differences in susceptibility to autoimmune disease. (iscb.org)

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)

A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)

however, to our knowledge this is the first experimental evidence for this phenomenon of synthetic association contributing to cancer susceptibility. (ox.ac.uk)
RESULTS: We identified a novel protective single nucleotide polymorphism at chr19q13.41, which is selectively associated with T2-low asthma and establishes Kallikrein-related peptidase 5 (KLK5) as the causal gene mediating this association. (bvsalud.org)
p=0.039, OR=6.7 [0.83-53.42]), and its association with disease susceptibility did not remain significant after Bonferroni correction. (acrabstracts.org)
Genetic association of E26 transformation specific sequence 1 polymorphisms with the susceptibility of primary biliary cholangitis in China. (cdc.gov)
Firstly, it was the first study to investigate the association between pre-miR-27a rs895819 polymorphism and susceptibility to RCC. (signsin1dayinc.com)

Immunoglobulin A (IgA) mediates mucosal responses to food antigens and the intestinal microbiome and is involved in susceptibility to mucosal pathogens, celiac disease, inflammatory bowel disease, and IgA nephropathy. (scilifelab.se)
Do the mutations of C1GALT1C1gene play important roles in the genetic susceptibility to Chinese IgA nephropathy? (biomedcentral.com)

and we introduce a region-based test to allow for heterogeneity in the location of causal alleles. (ox.ac.uk)

In addition, EBV potentially interacts with both genetic and other environmental factors to increase susceptibility and disease severity of MS. This review examines the role of EBV in MS pathophysiology and summarizes the recent clinical and radiological findings, with a focus on B-cells and in vivo imaging. (vitamindwiki.com)
However, whether human evolution is heading towards or away from disease susceptibility in general remains an open question. (blogspot.com)
The genetic-basis of common complex disease may partially be caused by positive selection events, which simultaneously increased fitness and susceptibility to disease. (blogspot.com)
These results inform the current understanding of disease etiology, shed light on potential benefits associated with the genetic-basis of disease, and aid in the efforts to identify causal genetic factors underlying complex disease. (blogspot.com)
One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
4 containing disease-resistance alleles that decrease the pathogenic activity of autoreactive B and CD4 T cells. (mcw.edu)

Oral presentation, Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) meeting, Apr 2019, Springdale, US. (utah.edu)

Having a copy of the minor allele (T) was found to be significantly associated with increased rosacea symptom severity. (genomelink.io)
Furthermore, results showed that having a copy of the T allele of the index SNP rs12203592 in the intronic region of the interferon regulatory factor 4 (IRF4) gene was strongly associated with rosacea symptom severity. (genomelink.io)
In addition, the A allele of rs3129843, located between major histocompatibility complex, class II, DR alpha (HLA-DRA) and butyrophilin like 2 (BTNL2), was associated with rosacea symptom severity. (genomelink.io)

We subsequently show how eQTLs have dynamic allelic effects in B cells transitioning from naïve to memory states, and demonstrate how commonly segregating alleles lead to inter-individual variation in immune function. (iscb.org)
Myoblasts from patients with FSHD also demonstrate increased susceptibility to oxidative stress. (medscape.com)

A striatal dopamine response to alcohol was restricted to carriers of the minor 118G allele. (psu.edu)

At least three distinct meiotic drive alleles, one on each S. kambucha chromosome, independently contribute to hybrid infertility by causing nonrandom spore death. (elifesciences.org)
Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. (who.int)

A growing body of evidence shows that poor vitamin D status has been associated with an increased susceptibility to viral and bacterial respiratory infections. (medrxiv.org)

This important step of narrowing down this region will help guide functional studies that could identify the causal allele(s) and possibly lead to preventive and therapeutic interventions. (cancer.gov)

RESULTS: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10(-18)) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. (ox.ac.uk)

in fact, we expect that the simultaneous presence of both environmental and genetic factors is the basis for "sufficient" causal complexes. (cdc.gov)

By refining the phenotype, they hope to have more power to detect the causal sequence variations. (unc.edu)

FSHD alleles are exclusively of the 4qter type (4qA161). (medscape.com)
The Working Group concluded that no type of cancer was elevated across studies to make a causal interpretation credible. (who.int)

This meta-analysis of 111,421 individuals provides further support for an interaction between physical activity and a GRS in obesity disposition, although these findings hinge on the inclusion of cohorts from North America, indicating that these results are either population-specific or non-causal. (lu.se)

Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits. (scilifelab.se)

Anatomy4

Organisms18

Diseases13

Chemicals and Drugs47

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Phenomena and Processes67

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science4

Named Groups3

Health Care10

Geographicals4

Loci14

Variants21

Genes10

Variant10

Locus5

Frequency8

Frequencies3

Specific alleles1

Protective alleles2

Affect susceptibility1

SNPs1

Populations1

Genetics2

Mendelian2

Crohn's1

Potential causal1

Ovarian4

Genotype1

Risk11

Single nucleotide po1

Mice2

Autoimmune disease1

Interactions1

Chromosomes1

Association5

Nephropathy2

Heterogeneity1

Disease6

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Severity3

Demonstrate2

Minor1

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Invasive1

Genetic factors1

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