|
rs3184504
|
ATXN2;SH2B3
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.820 |
GeneticVariation |
GWASDB |
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
|
21980299 |
2011 |
|
rs3184504
|
ATXN2;SH2B3
|
Coronary heart disease
|
|
0.820 |
GeneticVariation |
BEFREE |
The R262W polymorphism is associated with risk of CHD or MI in Europeans, but not in Asians.
|
30508957 |
2018 |
|
rs3184504
|
ATXN2;SH2B3
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.820 |
GeneticVariation |
BEFREE |
The SH2B3 784T>C variant could contribute to the pathogenesis of T1D through impaired immune response that promotes activation and expansion of self-reactive lymphocytes in susceptible individuals.
|
20546165 |
2011 |
|
rs3184504
|
ATXN2;SH2B3
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.820 |
GeneticVariation |
GWASDB |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
|
19430480 |
2009 |
|
rs3184504
|
ATXN2;SH2B3
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.820 |
GeneticVariation |
BEFREE |
After adjusting for country, sex, family history, and all other genetic loci, significantly greater co-occurrence was observed in children with a T1D family history (HR: 2.80), HLA-DR3/4 (HR: 1.94) and single-nucleotide polymorphism rs3184504 at SH2B3 (HR: 1.53).
|
29018046 |
2017 |
|
rs3184504
|
ATXN2;SH2B3
|
Coronary heart disease
|
|
0.820 |
GeneticVariation |
GWASDB |
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
|
21347282 |
2011 |
|
rs3184504
|
ATXN2;SH2B3
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.820 |
GeneticVariation |
GWASCAT |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
|
19430480 |
2009 |
|
rs3184504
|
ATXN2;SH2B3
|
Coronary heart disease
|
|
0.820 |
GeneticVariation |
BEFREE |
In conclusion, our results supported a significant association between rs3184504 of SH2B3 gene and the risk of CHD in Europeans and South Asians, although we were unable to observe association between the four variants and the risk of CHD in Han Chinese.
|
23328882 |
2013 |
|
rs3184504
|
ATXN2;SH2B3
|
Celiac Disease
|
|
0.810 |
GeneticVariation |
GWASDB |
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
|
22057235 |
2011 |
|
rs3184504
|
ATXN2;SH2B3
|
Coronary Artery Disease
|
|
0.810 |
GeneticVariation |
BEFREE |
Role of SH2B3 R262W gene polymorphism and risk of coronary heart disease: A PRISMA-compliant meta-analysis.
|
30508957 |
2018 |
|
rs3184504
|
ATXN2;SH2B3
|
Coronary Artery Disease
|
|
0.810 |
GeneticVariation |
GWASDB |
Large-scale association analysis identifies new risk loci for coronary artery disease.
|
23202125 |
2013 |
|
rs3184504
|
ATXN2;SH2B3
|
Celiac Disease
|
|
0.810 |
GeneticVariation |
BEFREE |
However, the minor allele A of rs3184504 (A vs G, OR = 1.18, 95%CI = 1.12-1.24, P < 0.001) in SH2B3 significantly increased CD susceptibility.
|
26535636 |
2015 |
|
rs3184504
|
ATXN2;SH2B3
|
Low density lipoprotein cholesterol measurement
|
|
0.800 |
GeneticVariation |
GWASDB |
Large-scale association analysis identifies new risk loci for coronary artery disease.
|
23202125 |
2013 |
|
rs3184504
|
ATXN2;SH2B3
|
Red Blood Cell Count measurement
|
|
0.800 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs3184504
|
ATXN2;SH2B3
|
Serum total cholesterol measurement
|
|
0.800 |
GeneticVariation |
GWASDB |
Large-scale association analysis identifies new risk loci for coronary artery disease.
|
23202125 |
2013 |
|
rs3184504
|
ATXN2;SH2B3
|
Red Blood Cell Count measurement
|
|
0.800 |
GeneticVariation |
GWASDB |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
|
19862010 |
2009 |
|
rs3184504
|
ATXN2;SH2B3
|
Low density lipoprotein cholesterol measurement
|
|
0.800 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs3184504
|
ATXN2;SH2B3
|
Serum total cholesterol measurement
|
|
0.800 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs3184504
|
ATXN2;SH2B3
|
Hypothyroidism
|
|
0.800 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs3184504
|
ATXN2;SH2B3
|
Colorectal Carcinoma
|
|
0.730 |
GeneticVariation |
BEFREE |
A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk.
|
26621817 |
2015 |
|
rs3184504
|
ATXN2;SH2B3
|
Colorectal Carcinoma
|
|
0.730 |
GeneticVariation |
BEFREE |
Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10(-7)), and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10(-7)); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10(-7) and OR = 1.09, P = 7.4 × 10(-8)); rs1129406 (12q13) in ATF1 (OR = 1.11, P = 8.3 × 10(-9)), all reaching exome-wide significance levels.
|
26553438 |
2015 |
|
rs3184504
|
ATXN2;SH2B3
|
Colorectal Carcinoma
|
|
0.730 |
GeneticVariation |
BEFREE |
We identified three pleiotropic loci within the inflammation pathway, including one novel locus in Ch12q24 encoding SH2B3 (rs3184504), which reached GWAS significance with a P value of 1.78 x 10(-8), and it showed an association with lung cancer (P = 2.01 x 10(-6)), colorectal cancer (GECCO P = 6.72x10(-6); CORECT P = 3.32x10(-5)), and breast cancer (P = .009).
|
26319099 |
2015 |
|
rs3184504
|
ATXN2;SH2B3
|
Autoimmune Chronic Hepatitis
|
|
0.720 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.
|
24768677 |
2014 |
|
rs3184504
|
ATXN2;SH2B3
|
Cardiovascular Diseases
|
|
0.720 |
GeneticVariation |
BEFREE |
A SH2B3 missense variant (rs3184504) is associated with cardiovascular diseases plus breast, colorectal and lung cancers, with highly correlated variants across the ATXN2/SH2B3/BRAP locus linked to parental age at death, suggesting a geroscience common mechanism of aging and disease.
|
31428775 |
2019 |
|
rs3184504
|
ATXN2;SH2B3
|
Autoimmune Chronic Hepatitis
|
|
0.720 |
GeneticVariation |
BEFREE |
We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)).
|
24768677 |
2014 |