STAT4、PSORS1C1基因多态性与兰州汉族RA易感性关系研究

Correlation between the genetic polymorphisms of STAT4 and PSORS1C1 and the susceptibility to rheumatic diseases in Han population of Lanzhou

目的研究rs7574865(STAT4)、rs7234029(PTPN2)、rs2233945(PSORS1C1)及rs33980500(TRAF3IP2)多态性与兰州地区汉族人群类风湿性关节炎(RA)易感的相关性。方法针对rs7574865、rs7234029、rs2233945及rs33980500 4个位点设计引物,建立聚合酶链式反应-高分辨率熔解曲线分析(PCR-HRM)基因分型方法,对104例RA患者标本进行研究,并分析4个位点与兰州地区汉族人群RA易感的相关性。结果 rs2233945和rs7574865位点在病例组和对照组的基因型频率差异有统计学意义(χ~2=13.063,P=1.45×10^(-3);χ~2=31.044,P=1.81×10^(-7))。在显性模型下,rs2233945 T基因(杂合型GT和纯合突变型TT)携带者患RA的风险明显降低(OR=0.481,95%CI:0.222-0.081,P<0.05);rs7574865 T基因(杂合型GT和纯合突变型TT)携带者患RA的风险明显增加(OR=4.586,95%CI:2.455-8.566,P<0.05)。结论本研究自建的PCR-HRM基因分型方法可对rs7234029、rs7574865、rs2233945和rs33980500位点进行常规化检测。rs7574865和rs2233945多态性与兰州汉族人群RA易感性相关。

This study was performed to investigate the relationship of the gene polymorphisms of rs7574865 （STAT4）, rs7234029 （PTPN2）, rs2233945 （PSORS1C1）, and rs33980500 （TRAF3IP2） with the susceptibility to rheumatoid arthritis （RA） among Han population in Lanzhou. The four sites of 104 RA patients were analyzed by self-built genotyping method of Polymerase chain reaction-high resolution melting curve analysis （PCR-HRM）. Data showed that the genetype distribution of rs2233945 and rs7574865 were significantly different between the cases and controls. Under the dominant model, the T allele of rs2233945 （GT hererozygote and TT homozygote） were found significantly correlated with low risk of RA; on the contrary, the T allele of rs7574865 （GT hererozygote and TT homozygote） were found significantly correlated with high risk of RA. In conclusion, the self-build method of PCR-HRM can be applied to the routine detection of rs7574865, rs7234029, rs2233945 and rs33980500; the polymorphisms of rs7574865 and rs2233945 are associated with RA risk among Han population in Lanzhou.