Association Of The SNP Of The CTLA-4Gene With Graves’ Disease And Graves’ Ophthalmopathy Among The Han Population In The Northern Part Of Anhui Province

Objective The aim of the study is to investigate the association of Graves’disease(GD) and Graves’ ophthalmopathy (GO)with the A/G SNP at position60of3’untranslated region and the C/T single nucleotide polymorphism (SNP) at position-318of promoter within cytotoxic T lymphocyte associated antigen-4(CTLA-4)gene.Methods102unrelated patients with Graves’ disease （37with Graves’ophthalmop,65normal） and80control subjects were involved in the study. Allsubjects with Han ethnicity live in the northern part of ANHUI province. Thepolymorphisms were evaluated by polymerase chain reaction fragment lengthpolymorphism (PCR-RFLP). Comparisons were made of gene frequencies and allelefrequencies between the groups.Results.The gene frequencies of C/T and allele frequencies of T at position-318were much higher in Graves’ patients with ophthalmopathy than that in the groupwithout ophthalmopathy （p=0.000，p=0.020）. The gene frequencies of G/G andallele frequencies of G at position60in patients with Graves’ disease weresignificantly increased as compared with control group （P=0.006，P=0.014）。Conclusion Our results suggest that an allele of T at position318of promoter isassociated with genetic susceptibility to Graves’ ophthalmopathy while an allele of Gat position60of3’ untranslated region is associated with genetic susceptibility toGraves’ disease instead.