|
Thrombocythemia, Essential
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Most recently, ASXL1, SRSF2, and IDH2 mutations have been associated with inferior overall, leukemia-free or fibrosis-free survival in PV; similarly adverse mutations in ET included SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2.
|
27991718 |
2017 |
|
Thrombocythemia, Essential
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene).
|
27111338 |
2016 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.
|
29310926 |
2018 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|
21829393 |
2011 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
|
19430480 |
2009 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
|
21980299 |
2011 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Children of parents with type 1 diabetes and prospectively followed from birth for the development of islet autoantibodies and diabetes were genotyped for single-nucleotide polymorphisms at 12 type 1 diabetes susceptibility genes (ERBB3, PTPN2, IFIH1, PTPN22, KIAA0350, CD25, CTLA4, SH2B3, IL2, IL18RAP, IL10 and COBL).
|
22932816 |
2012 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The 32-bp insertion-deletion variant on chromosome 3p21 was newly identified as a type 1 diabetes locus (P=1.81x10(-8)) and was also associated with celiac disease, along with PTPN2 on chromosome 18p11 and CTLA4 on chromosome 2q33, bringing the total number of loci with evidence of a shared association to seven, including SH2B3 on chromosome 12q24.
|
19073967 |
2008 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Autoantibodies to insulin (IAA), GAD (GADA), insulinoma-associated antigen-2 (IA-2A) and zinc transporter 8 (ZnT8A) were measured in follow-up sera, and genotyping for type 1 diabetes susceptibility genes (HLA-DR/HLA-DQ, INS variable number of tandem repeats [VNTR] and single nucleotide polymorphisms at PTPN22, PTPN2, ERBB3, IL2, SH2B3, CTLA4, IFIH1, KIAA0350 [also known as CLEC16A], CD25, IL18RAP, IL10, COBL) was performed on the DNA samples of children born to a parent with type 1 diabetes and prospectively followed from birth for up to 22 years.
|
23539116 |
2013 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
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
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
PTPN22 (1p13.2), STAT4 (2q32.2), CTLA4 (2q33.2), HLA (6p21), IL2RA (10p15.1), INS (11p15.5), ERBB3 (12q13.2), SH2B3 (12q24.12), and CLEC16A (16p13.13) were convincingly associated with autoimmune diabetes in adults (P ≤ 0.002), with consistent directions of effect as reported for pediatric type 1 diabetes.
|
21873553 |
2011 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
|
19430480 |
2009 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Role of SH2B3 R262W gene polymorphism and risk of coronary heart disease: A PRISMA-compliant meta-analysis.
|
30508957 |
2018 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
|
26343387 |
2015 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
However, the mechanisms underlying the association of LNK single-nucleotide polymorphisms with coronary heart disease are poorly understood.
|
27430239 |
2016 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
|
24262325 |
2014 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Rs3184504 (SH2B3) was associated with a higher adjusted geometric mean of 3% (1-6%, p=0.003) per CAD risk allele for PC, and an 11% (5-17%, p<0.001) lower TPO.
|
28865245 |
2017 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
We also took advantage of the fact that penalized methods are an efficient approach to search for gene-by-gene interactions, and observed that two-way interactions between the PHACTR1 and ADAMTS7 loci and between the SH2B3 and COL4A1 loci contribute to CAD risk.
|
26982883 |
2016 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
Large-scale association analysis identifies new risk loci for coronary artery disease.
|
23202125 |
2013 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Of only 5 RA-associated SNP showing p values for CAD < 0.05, 4 loci (C5orf30, IL-6R, PTPN22, and RAD51B) showed directionality-consistent effects on CAD, and 1 (rs10774624, locus SH2B3) reached study-wide significance (p = 7.29E-06).
|
27744395 |
2017 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The one exception was rs653178 near SH2B3 (SH2B adaptor protein 3), which showed direction-consistent association with systolic (P = 9.3 ×10(-10)) and diastolic (P = 1.6 ×10(-14)) blood pressure and coronary artery disease (P = 2.2 ×10(-6)), all previously reported.
|
23474010 |
2013 |
|
Coronary Artery Disease
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
|
Myocardial Infarction
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
|
19198610 |
2009 |
|
Cerebrovascular accident
|
0.410 |
GeneticVariation
|
group |
GWASCAT |
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
|
29531354 |
2018 |