|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Autoimmune Chronic Hepatitis
|
|
0.720 |
GeneticVariation
|
BEFREE |
Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH.
|
28703133 |
2017 |
|
Cardiovascular Diseases
|
|
0.720 |
GeneticVariation
|
BEFREE |
We found that BP, CAD and IS shared for phosSNPs in loci that contain functional genes involve in cardiovascular diseases, e.g., rs11556924 (ZC3HC1), rs1971819 (ICA1L), rs3184504 (SH2B3), rs3739998 (JCAD), rs903160 (SMG6).
|
31456518 |
2019 |
|
Carcinoma of lung
|
|
0.710 |
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 |
|
Endometrial Carcinoma
|
|
0.710 |
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 |
|
Breast Carcinoma
|
|
0.710 |
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 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, there was no significant association between R262W and fasting glucose, HbA1c or incidence of diabetes.
|
26891449 |
2016 |
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, there was no significant association between R262W and fasting glucose, HbA1c or incidence of diabetes.
|
26891449 |
2016 |
|
Autoimmune hepatitis
|
|
0.020 |
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 |
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
Significant factors for diabetes progression included age at screening, Ab number, HLA genotypes, rs6476839 [GLIS family zinc finger 3 (GLIS3)], and rs3184504 [SH2B adaptor protein 3 (SH2B3)].
|
28520980 |
2017 |
|
Malignant neoplasm of lung
|
|
0.020 |
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 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
Significant factors for diabetes progression included age at screening, Ab number, HLA genotypes, rs6476839 [GLIS family zinc finger 3 (GLIS3)], and rs3184504 [SH2B adaptor protein 3 (SH2B3)].
|
28520980 |
2017 |
|
Malignant neoplasm of lung
|
|
0.020 |
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 |
|
Autoimmune hepatitis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH.
|
28703133 |
2017 |
|
Myeloid Leukemia, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
For rs3184504 (T/C, in exon2), the T allele (p.262W) and TT genotype were frequently seen in ET, PV and PMF (P<0.01), and C allele (p.262R) and CC genotype were frequently seen in CML (P<0.01).
|
27111338 |
2016 |