程序性细胞死亡基因1rs2227981和rs2227982多态性与1型糖尿病易患性的关系

Association of programmed cell death 1 rs2227981 and rs2227982 polymorphism with type 1 diabetes

目的探讨程序性细胞死亡基因1（PDCD1）单核苷酸多态性（SNP）与1型糖尿病（T1DM）的关系。方法选取2014年8月至2016年12月就诊于南京医科大学第一附属医院内分泌科的585例T1DM患者（T1DM组）及同期本地区761名无血缘关系的健康志愿者（健康对照组）为研究对象。利用毛细管电泳和片段分析技术（SNaPshot技术）对其PDCD1基因rs2227981 （PD-1.5）和rs2227982 （PD-1.9）位点进行基因分型，并分析两组间rs2227981和rs2227982位点基因型及等位基因频率的分布与T1DM易患性之间的相关性。2组间比较采用t检验，率的比较采用χ2检验。结果PDCD1基因rs2227981位点CC、CT、TT基因型在T1DM患者中的频率分别为50.6%、40.0%、9.4%，健康对照者中为56.6%、37.2%、6.3%，两组比较差异有统计学意义（OR=1.25, 95%CI：1.06-1.48, P=0.01），等位基因C、T在T1DM患者和健康对照者中分别为70.6%、29.4%和75.1%、24.8%，T等位基因的存在可增加患T1DM的风险（OR=1.26，95%CI：1.06-1.49，P=0.009）。PDCD1基因rs2227982位点TT、TC、CC基因型在T1DM患者中的频率分别为20.2%、51.8%、28%，健康对照者中为25.8%、49%、25.2%，两组比较差异有统计学意义（OR=1.18，95%CI： 1.02-1.38，P=0.031），等位基因T、C在T1DM患者和健康对照者中分别为46.1%、53.9%和50.3%、49.7%，C等位基因可增加患T1DM的风险（OR=1.15，95%CI： 1.01-1.30，P=0.028）。结论PDCD1基因rs2227981位点C/T和rs2227982位点T/C多态性与T1DM易患性相关。

Objective To evaluate the association between programmed cell death 1 （PDCD1） gene variants and type 1 diabetes mellitus （T1DM）.Methods A case-control study was conducted in 585 T1DM patients from August 2014 to December 2016 in the Department of Endocrinology of the First Affiliated Hospital of Nanjing Medical University and 761 healthy controls in the same period in this region. PDCD1 rs2227981 and rs2227982 genotypes were analyzed by SNaPshot and the association of rs2227981 and rs2227982 locus genotype and allele frequency distribution with T1DM susceptibility was analyzed.Results Our study indicated that the frequency of CC, CT and TT genotype of rs2227981 in T1DM patients were 50.6%, 40.0% and 9.4% respectively and 56.6%, 37.2% and 6.3% respectively in healthy subjects. PDCD1 rs2227981 polymorphism was significantly associated with T1DM （OR=1.25, 95%CI： 1.06-1.48, P=0.01）. Allelic gene C and T frequency were 70.6% and 29.4% in T1DM group, and 75.1% and 24.8% in control group, the T allele increased the risk of T1DM （OR=1.26, 95%CI： 1.06-1.49, P=0.009）. The frequency of TT, TC and CC genotype of rs2227982 in T1DM patients were 20.2%, 51.8% and 28% respectively and 25.8%, 49% and 25.2% respectively in healthy subjects. PDCD1 rs2227982 polymorphism was also associated with T1DM （OR=1.18, 95%CI： 1.02-1.38, P=0.031）. Allelic gene T and C frequency were 46.1% and 53.9% in T1DM group, and 50.3% and 49.7% in control group, the C allele increased the risk of T1DM （OR=1.15, 95%CI： 1.01-1.30, P=0.028）.Conclusion The results indicate that PDCD1 rs2227981 and rs2227982 polymorphism are associated with increased risk of T1DM.