PTPN22基因多态性与江苏淮安地区汉族人群系统性红斑狼疮易感性的相关性  

The correlation between polymorphisms of PTPN22 Gene and systemic lupus erythematosus in Han Population in Huai′an area, Jiangsu Province

作　　者：邢飞 周瑾 姜玉新[2] 金跃 XING Fei;ZHOU Jin;JIANG Yu-xin;JIN Yue(Clinical Laboratory,The Affiliated Huai'an Hospital of Xuzhou Medical University,Huaian 223000,Jiangsu,China)

机构地区：[1]徐州医科大学附属淮安医院检验科,江苏淮安223000 [2]皖南医学院生理教研室,安徽芜湖241002

出　　处：《广东医学》2020年第4期370-374,共5页Guangdong Medical Journal

摘　　要：目的探讨蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因rs1310182、rs2488457、 rs33996649位点多态性与江苏淮安地区汉族人群系统性红斑狼疮易感性的相关性。方法采用病例对照方法,聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测PTPN22基因rs1310182、rs2488457、 rs33996649位点多态性。比较231例系统性红斑狼疮患者和202例健康体检者之间基因型和等位基因频率的差异。结果 rs2488457基因型CC/GC+GG、等位基因C均与对照组差异有统计学意义(P<0.05)。rs1310182、rs33996649位点基因型与对照组差异无统计学意义(P>0.05),而rs33996649位点等位基因A与对照组差异有统计学意义(P<0.05)。结论 rs2488457基因型位点可能与淮安地区汉族人群SLE易感性相关,携带CC基因型、等位基因C/A可能是SLE发生的危险因素,而rs1310182、rs33996649位点多态性基因型与淮安地区汉族人群SLE均无相关性。Objective To investigate the correlations between tyrosine phosphatase non-receptor type 22(PTPN22) gene rs1310182, rs2488457 and rs33996649 polymorphisms and susceptibility to systemic lupus erythematosus(SLE) in Han population of Jiangsu Huai′an area. Methods The study included 231 patients with SLE and 202 healthy volunteers. Genomic DNA was extracted and the genotyping was performed based on the PCR-restriction fragment length polymorphism(PCR-RFLP) method. Results There were significant differences in rs2488457 genotype CC/GC+GG and allele C between SLE patients and controls(P<0.05). There was no significant difference in genotype of rs1310182 or rs33996649 between SLE patients and controls(P>0.05), while there was significant difference in the allele A of rs33996649 between them(P<0.05). Conclusion The rs2488457 genotype locus may be associated with SLE susceptibility in Han population in Huai′an area. Carrying C/C and allele C/A may be risk factors for SLE, while rs1310182 and rs33996649 polymorphisms genotype are not associated with SLE.

关 键 词：系统性红斑狼疮 蛋白酪氨酸磷酸酶非受体型22 基因多态性 

分 类 号：R466.69[医药卫生—临床医学] R593.241