蛋白酪氨酸磷酸酶非受体型22（PTPN-22）基因多态性与青海藏族Graves病的相关性研究

Correlation between gene polymorphism of protein tyrosine-phosphatase, non-receptor type22 and Graves disease in Qinghai Tibetan

目的探讨蛋白酪氨酸磷酸酶非受体型22（PTPN-22）基因多态性与青海藏族Graves病（GD）的关联性。方法选择2012年7月至2016年11月于青海省人民医院门诊及住院部确诊的130例藏族GD患者作为GD组，选择青海省人民医院体检中心查体健康者110例作为对照组：所有调查对象均为无亲缘关系的青海籍藏族世居居民。既往无甲状腺疾病及其他自身免疫性疾病，且无自身免疫性疾病家族史。采用限制性片段长度多态性聚合酶链反应（PCR-RFLP），检测观察对象PTPN-22基因外显子14的1858位C／T基因型及等位基因。结果对照组及GD组行Hardy—Weinberg平衡检验样本代表性，P均〉0．05，提示样本具有群体代表性，可用于群体遗传学研究。对照组与GD组FTPN-22基因外显子14的1858位C／T基因型（CC、CT、TT）频率比较，差异无统计学意义[95．45％（105／110）比93．08％（121／130）、4．55％（5／110）比6．92％（9／130）、O（0／110）比0（0／130），χ^2=0．613，P〉0．05]；等位基因（C、T）频率比较，差异无统计学意义[97．73％（215／220）比96．54％（251／260），2．27％（5／220）比3．46％（9／260），χ^2=0．015，P〉0．05]。结论PTPN-22基因外显子14第1858位点C／T基因多态性与青海藏族GD发病无关联性，该基因不是青海藏族GD发病的易感候选基因。

Objective To investigate the correlation between gene polymorphism of protein tyrosine-phosphatase, non-receptor type22 （PTPN-22） and Graves disease （GD） in Qinghai Tibetan. Methods One hundred and thirty Tibetan cases of GD were selected randomly from July 2012 to November 2016 in the People＇s Hospital of Qinghai Province; meanwhile, 110 normal control cases were selected randomly from the Qinghai Tibetan. All the subjects were non-related Tibetan residents of Qinghai nationality, who had no thyroid disease and other autoimmune diseases, and had no family history of autoimmune diseases. Then genotype and allele of PTPN-22 were detected by the method of polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP）. Results The Hardy-Weinberg balance test was used to examine the representativeness of the control group and the GD group （P 〉 0.05）. The suggested samples have population representativeness and can be used in population genetics research. The distribution of PTPN-22 exon 14 （1 858C/T） genotype frequencies （CC, CT, TF） did not differ between normal control cases and GD in Qinghai Tibetan [95.45% （105/110） vs 93.08% （121/130）, 4.55% （5/110） vs 6.92% （9/130）, 0 （0/110） vs 0 （0/130）,χ^2= 0.613, P 〉 0.05]. The distribution of PTPN-22 exon 14 （1 858C/T） allele frequencies （C, T） did not differ between normal control cases and GD in Qinghai Tibetan [97.73%（215/220） vs 96.54% （251/260）, 2.27% （5/220） vs 3.46% （9/260）,χ^2= 0.015, P 〉 0.05]. Conclusion There is no significant relationship between the polymorphisms of PTPN-22 gene exon 14 （1 858C/T） and GD.