CTLA-4 (+55A/C) & seropositivity against thyroid autoantigens,

What is it about?

The aim of this case-control study was to evaluate the correlation between polymorphisms at the level of exon 1 from the CTLA-4 gene and the susceptibility to developing HT. In this study, we found that there is no statistically significant association between the polymorphism rs231775 (A22G in exon 1) of the CTLA-4 gene and a genetic predisposition to HT. In contrast, a strong association was discovered for the first time between C55A in exon 1 of the CTLA-4 gene and HT.

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Why is it important?

Despite extensive investigations of CTLA-4 SNPs, the association between +22A/G rs231775 SNP and thyroid auto-antibody production in Asian patients has not been demonstrated [36–41]. Therefore, in the present study, we aimed to determine whether there is a role played by CTLA-4 genotypes at rs231775 and other new SNPs in exon 1, which we determined using Sanger sequencing among seropositive patients to evaluate their role between CTLA-4 genotypes and susceptibility and influence in the increase of anti-TPO and anti-TG antibody titers in AITDs. We demonstrate for the first time that C55A polymorphism is positively associated with disease, specifically HT.