CTLA4基因与Ⅰ型糖尿病易感性的关联研究

Association of CTLA4 gene single nucleotide polymorphism with type 1 diabetes in Chinese population

目的探讨细胞毒性T淋巴细胞相关抗原4(CTLA4)基因单核苷酸多态性位点rs231775(G/A)与Ⅰ型糖尿病(TIDM)易感性的关系。方法采用病例对照研究,收集TIDM患者及正常儿童外周血,提取基因组DNA,应用PCR扩增产物直接测序法对多态性位点rs231775进行分析。结果 T1DM组GG基因型频率高于对照组频率(48.1%对31.9%,OR值2.615,95%CI 1.061~6.447,P<0.05),且T1DM组G等位基因频率也高于对照组频率(69.8%对58.6%,OR值1.63,95%CI1.11~2.41,P<0.05)。结论 CTLA4+49A/G基因多态性与天津地区TIDM相关,GG基因型与G等位基因显著增加TIDM的发病风险。

Objective： To investigate the association of CTLA4 gene single nucleotide polymorphism ＋49A/G with type 1 diabetes in Chinese Han population. Methods： Genomic DNA were extracted from the peripheral blood samples of 106 T1DM patients and 122 controls. The CTLA4 ＋49A/G polymorphism （rs231775） were amplified by PCR and detected by direct sequencing. Results： The frequencies ofgenotype GG （48.1% vs 31.9%, OR=2.615, 95%CI 1.061-6.447, P〈0.05） and allele G （69.8% vs 58.6%, OR=1.63, 95%CI 1.11-2.41, P〈0.05） of rs231775 in T1DM group were higher than those in control group. Conclusion： GG genotypes and G alleles in rs231775 of CTLA4 gene are related to the high risk of T1DM in Chinese Han population in Tianjin.