rs231775, CTLA4

N. diseases: 115
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and exon 4 (microsatellite (AT)n) have been linked to Hashimoto's thyroiditis (HT) and other autoimmune diseases. 12225635 2002
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an important role in immune regulation by downregulating T-cell activation, and the CTLA-4 49A/G polymorphism in the exon 1 has been shown to be associated with a number of autoimmune diseases. 16045690 2005
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Our observations of a higher frequency of the CTLA-4 + 49 A/G SNP in AH patients are in concordance with findings in other autoimmune disorders. 18081831 2008
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Interestingly, we have recently shown that an SNP in the CTLA-4 coding region (49A > G) is also associated with susceptibility to human cancer, but the risk allele for susceptibility to cancer (allele A) is the opposite of that found for susceptibility to autoimmune disease (allele G), which has been confirmed by a meta-analysis of reported studies. 19638588 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Our results may therefore lend support to the hypothesis that humoral autoimmunity is correlated with 49A/G and CT60 polymorphisms of the CTLA-4 gene. 19559744 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE While there was no association with vitiligo overall, the meta-analysis showed significant association of SNP rs231775 in that subgroup of vitiligo patients who also had other concomitant autoimmune diseases. 19175525 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Its nonsynonymous polymorphism +49G > A (dbSNP: rs231775) has been linked to an elevated risk of T-cell-mediated autoimmune diseases, infectious diseases, and even carcinomas. 19778566 2010
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE It has been found that CTLA4 +49A>G (rs231775), +6230G>A (rs3087243), and 11430G>A (rs11571319) polymorphisms are associated with susceptibility to many autoimmune diseases, and can down-regulate the inhibition of cellular immune response of CTLA4. 22811616 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Our present study indicates that CTLA-4 +49 G/A (rs231775) is associated with the susceptibility of autoimmune disease. 28384040 2017
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Because the functional single-nucleotide polymorphism (SNP) rs231775 of the CTLA-4 gene is associated with autoimmune diseases and because of the critical role of the immune reaction in sepsis, we intended to examine the effect of this polymorphism on survival in patients with sepsis. 30310101 2018