Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene  

作　　者：ZHANG Qin YANG Yun-mei LV Xue-ying 

机构地区：[1]Department of Very Important People, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China

出　　处：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2006年第11期887-891,共5页浙江大学学报（英文版）B辑（生物医学与生物技术）

摘　　要：Objective: To investigate the association of Graves’ disease and Graves’ ophthalmopathy with the C/T transition polymorphism at position –318 of promoter and the A/G transition polymorphism at position 49 of exon 1 within cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene. Methods: Thirty-three patients with ophthalmopathy of Graves’ disease, fifty-six Graves’ patients without ophthalmopathy and sixty normal subjects as control were involved in the present case-control study. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Com-parisons were made of gene frequencies and allele frequencies between the groups. Results: The gene frequencies of CT and allele frequencies of T were much higher in Graves’ patients with ophthalmopathy than that in the group without ophthalmopathy (P=0.020, P=0.019). The gene frequencies of GG and allele frequencies of G in patients with Graves’ disease were significantly increased as compared with control group (P=0.008, P=0.007). The data suggest that smokers with Graves’ disease seemed to be more predisposed to ophthalmopathy than non-smokers (P=0.018). Conclusion: Our results suggest that an allele of T at position –318 of promoter is associated with genetic susceptibility to Graves’ ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves’ disease instead. Smoking is believed to be a major risk factor for ophthalmo-pathy.Objective： To investigate the association of Graves＇ disease and Graves＇ ophthalmopathy with the C/T transition polymorphism at position -318 of promoter and the A/G transition polymorphism at position 49 of exon 1 within cytotoxic T lymphocyte associated antigen-4 （CTLA-4） gene. Methods： Thirty-three patients with ophthalmopathy of Graves＇ disease, fifty-six Graves＇ patients without ophthalmopathy and sixty normal subjects as control were involved in the present case-control study. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism （PCR-RFLP）. Comparisons were made of gene frequencies and allele frequencies between the groups. Results： The gene frequencies of CT and allele frequencies of T were much higher in Graves＇ patients with ophthalmopathy than that in the group without ophthalmopathy （P=-0.020, P=-0.019）. The gene frequencies of GG and allele frequencies of G in patients with Graves＇ disease were significantly increased as compared with control group （P=0.008, P=0.007）. The data suggest that smokers with Graves＇ disease seemed to be more predisposed to ophthalmopathy than non-smokers （P=0.018）. Conclusion： Our results suggest that an allele of T at position -318 of promoter is associated with genetic susceptibility to Graves＇ ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves＇ disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.

关 键 词：Graves＇ ophthalmopathy Cytotoxic T lymphocyte associated antigen-4 （CTLA-4） gene Gene frequency Susceptibility gene 

分 类 号：R581.1[医药卫生—内分泌]