|
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
*642AT(8_33)(AT<sub>16-21</sub>)/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT<sub><16</sub>)GT(m) haplotypes increased risk of Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome.
|
27638540 |
2017 |
|
Myasthenia Gravis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent.
|
30009380 |
2018 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
A significant association was found between the CTLA-4 CT60 polymorphism (rs3087243) and GD, with regard to comparisons between allele and genotype frequencies (all p < 0.001).
|
24697361 |
2014 |
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Also, the +6230G>A (rs3087243) polymorphism reduced breast cancer risk especially in the Chinese population under homozygous and recessive models.
|
28097051 |
2017 |
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Also, the +6230G>A (rs3087243) polymorphism reduced breast cancer risk especially in the Chinese population under homozygous and recessive models.
|
28097051 |
2017 |
|
Primary biliary cirrhosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants.
|
28922436 |
2017 |
|
Ankylosing spondylitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of the HLA-B27 antigen and the CTLA4 gene CT60/rs3087243 polymorphism with ankylosing spondylitis in Algerian population: A case-control study.
|
29675891 |
2018 |
|
Appendicitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52-23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24-4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02-0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243.
|
31845023 |
2020 |
|
Fatigue
|
|
0.010 |
GeneticVariation
|
BEFREE |
Besides, patients carrying A allele of rs3087243 had significantly lower score of fatigue domain than those carrying G allele (2.5 ± 0.8 vs 3.9 ± 1.3, P < 0.001).
|
23432218 |
2013 |
|
Thyroid Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
CTLA-4 CT60 (rs3087243) polymorphism and autoimmune thyroid diseases susceptibility: a comprehensive meta-analysis.
|
24697361 |
2014 |
|
Ulcerative Colitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
CTLA-4 gene rs3087243 G > A and rs231775 G > A, and MDR1 gene rs1045642 C > T might confer an increase for UC risk.
|
26379408 |
2015 |
|
Hypothyroidism
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
Rheumatoid Arthritis
|
|
0.850 |
GeneticVariation
|
BEFREE |
Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (STAT4)) were significantly associated with RA by meta-analysis.
|
20498205 |
2010 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.860 |
GeneticVariation
|
GWASCAT |
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
|
25751624 |
2015 |
|
Allergic rhinitis (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
For CTLA-4, AA genotype and A allele in rs3087243 and rs231725 were increased in AR with asthma group while in AR group, AA genotype and A allele in rs231725 were obviously decreased.
|
27917628 |
2016 |
|
Asthma
|
|
0.020 |
GeneticVariation
|
BEFREE |
For CTLA-4, AA genotype and A allele in rs3087243 and rs231725 were increased in AR with asthma group while in AR group, AA genotype and A allele in rs231725 were obviously decreased.
|
27917628 |
2016 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.860 |
GeneticVariation
|
BEFREE |
For the case-control studies, 1) the rs3087243 polymorphism was significantly associated with T1D [allele (fixed: odds ratio and 95% confidence interval (CI) = 1.249 (1.194-1.307), P < 0.001; random: odds ratio and 95%CI = 1.601 (1.103-2.325), P = 0.013)] [genotype (GG versus GA+AA: odds ratio and 95%CI = 1.249 (1.164-1.341), P < 0.001)], 2) there was no evidence to show that this association was accounted for in any study, and 3) there was no evidence for publication bias.
|
24390983 |
2013 |
|
Autoimmune thyroid disease (AITD)
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2292399, and CLEC16A rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD in Japanese T1D.
|
18940880 |
2009 |
|
Rheumatoid Arthritis
|
|
0.850 |
GeneticVariation
|
GWASCAT |
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
|
30423114 |
2019 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.860 |
GeneticVariation
|
BEFREE |
Genetic polymorphisms (HLA haplotypes; rs231806, rs231775, and rs3087243 in CTLA4; rs763361 in CD226; and rs706778 in CD25) and T1D-associated autoantibodies were analyzed.
|
25980680 |
2015 |
|
Rheumatoid Arthritis
|
|
0.850 |
GeneticVariation
|
GWASCAT |
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
|
24390342 |
2014 |
|
Rheumatoid Arthritis
|
|
0.850 |
GeneticVariation
|
GWASDB |
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
|
24390342 |
2014 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.860 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|
21829393 |
2011 |