Association between rs3087243 and rs231775 polymorphism within the cytotoxic T-lymphocyte antigen 4 gene and Graves' disease: a case/control study combined with meta-analyses

Abstract

We conducted a case/control study to assess the impact of SNP rs3087243 and rs231775 within the CTLA4 gene, on the susceptibility to Graves' disease (GD) in a Chinese Han dataset (271 cases and 298 controls). The frequency of G allele for rs3087243 and rs231775 was observed to be significantly higher in subjects with GD than in control subjects (p = 0.005 and p = 0.000, respectively). After logistic regression analysis, a significant association was detected between SNP rs3087243 and GD in the additive and recessive models. Similarly, association for the SNP rs231775 could also be detected in the additive model, dominant model and recessive model. A meta-analysis, including 27 published datasets along with the current dataset, was performed to further confirm the association. Consistent with our case/control results, rs3087243 and rs231775 showed a significant association with GD in all genetic models. Of note, ethnic stratification revealed that these two SNPs were associated with susceptibility to GD in populations of both Asian and European descent. In conclusion, our data support that the rs3087243 and rs231775 polymorphisms within the CTLA4 gene confer genetic susceptibility to GD.

Genetic Association Study of IL2RA, IFIH1, and CTLA-4 Polymorphisms With Autoimmune Thyroid Diseases and Type 1 Diabetes

“…The study revealed that G allele in rs231775 contributes to an increased incidence in HT and GD ( 15 ). Similarly in the study of Tu et al in Chinese population G allele of rs231775 was revealed to be significantly more often in subjects with GD than in control subjects ( 66 ). Ting et al found in their work that CTLA4 SNPs A49G was associated with GD not only in Chinese adults but also and children ( 67 ).…”

Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset

“…This SNP was shown to play an important role in T and B cell receptor signaling (5). The SNP rs3087243 in CTLA4 is associated with several autoimmune diseases, including SLE, RA, T1D, and Graves' disease (8,(10)(11)(12)(13)(14). The CTLA4 SNP has a protective effect, and the major allele G is associated with autoimmunity.…”

Increased risk of Graves´ophthalmopathy in patients with increasing TRAb after radioiodine treatment and the impact of CTLA4 on TRAb titres

“…In the present study, we have found a new association of TRAb titers elevated above the median and rs231775 in CTLA-4 . The variant is located in exon 1 + 49 and it was shown that the A to G substitution at this location is linked with GD [ 20 ]. A study by Ban et al found that the genotype GG in the CTLA4 A/G 49 SNP resulted in a reduced increase in T-cell proliferation compared with the AA genotype [ 21 ].…”