Abstract

Objective To investigate the correlation between gene polymorphism of cytotoxic T lymphocyte associated antigen-4 (CTLA-4) and Graves disease (GD) in Qinghai Tibetan. Methods Using retrospective analysis methods, totally 130 cases of GD were selected randomly from June 2012 to November 2016 in the People's Hospital of Qinghai Province; meanwhile, 110 normal control cases were selected randomly from Qinghai Tibetan. Then the genotype and allele of CTLA-4 were detected by the method of polymerase chain reaction restriction fragment length polymorphism (RFLP-PCR). Results The distribution of CTLA-4 genotype frequencies (AA, AG, GG) was different between normal control cases and GD in Qinghai Tibetan [6.2% (8/130) vs 26.4% (29/110), 50.0% (65/130) vs 58.2% (64/110), 43.8% (57/130) vs 15.4% (17/110), χ2 = 32.105, P < 0.05]. Allele (A, G) frequencies were compared between GD and control, the differences were statistically significant [31.2%(81/260) vs 55.5% (122/220), 68.8% (179/260) vs 44.5% (98/220), χ2 = 28.834, P < 0.05]. Conclusion Polymorphisms of CTLA-4 exon 1 (49A/G) genotype and allele are closely correlated with GD in Qinghai Tibetan. Key words: Cytotoxic T lymphocyte associated antigen-4; Gene polymorphism; Graves disease

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