Association of Graves' disease and Graves' ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene |
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作者姓名: | Zhang Q Yang YM Lv XY |
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作者单位: | Department of Very Important People, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China |
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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). 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.
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关 键 词: | 眼病 甲状腺机能亢进 基因频率 易患基因 |
收稿时间: | 2006-02-15 |
修稿时间: | 2006-08-21 |
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