CTLA-4基因多态性与粤西汉族人Graves病发病的相关性研究

目的研究细胞毒性T淋巴细胞相关抗原-4（cytotoxic T lymphocyte associated antigen-4，CTLA-4）基因外显子1＋49A／G位点和启动子-318位点多态性与粤西汉族人Graves病（GD）发病的关联性。方法应用PCR—RFLP分析102例GD患者与100例正常对照组CTLA-4基因的外显子1＋49位点A／G及启动子-318位点C／T多态性。结果GD组外显子1＋49A／G位点的GG基因型及G等位基因频率显著高于正常组（P〈0．05），GD组有家族史者外显子1＋49A／G位点的GG基因型及G等位基因频率显著高于GD组无家族史者（P〈0．01）；GD组启动子-318位点的各基因型、等位基因频率均与正常组相比差异无统计学意义（P〉0．05）。结论CTLA-4基因外显子1＋49A／G位点（如基因型及G等位基因可能是粤西汉族人GD的易感因素，尤以具有家族史的易感性更明显；启动子-318位点多态性与粤西汉族人GD的遗传易感性无关联。

Relationships between CTLA-4 gene polymorphism and Graves' disease in Han population in western region of Guangdong province

Objective To investigate the relationships between exon 1 （ ＋ 49A/G）, promoter （-318T/C） polymorphism of CTLA-4 gene and Graves＇ disease （GD） in Han population in western region of Guangdong province. Methods The exon 1 （ ＋ 49A/G） and promoter （-318T/C） polymorphism of CTLA-4 gene was detected by PCR-RFLP in 102 GD patients and 100 healthy controls. Results The frequency of GG genotype and G allele of CTLA-4 gene exon 1 （ ＋ 49 A/G） in GD patients and those with family history was significantly higher than that in control subjects and GD patients without family history （P〈 0.01 or 0.05）, but there was no statistical difference in the distribution of genotype and allele of promoter （-318C/T） between GD and control groups （ P 〉 0.05）. Conclusion The predisposing factors of GD patients in western region of Guangdong province could be related to GG genotype and G allele of CTLA-4 gene exon 1 （ ＋ 49 A/G） other than promoter （-318T/C） polymorphism, especially in those with family history.