原发免疫性血小板减少症患者PTPN22基因多态性研究

The research of single-nucleotide polymorphisms in the PTPN22 gene conferring the susceptibility in immune thrombocytopenia

目的探讨原发免疫性血小板减少症(ITP)患者蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因rs2476601、rs3811021和rs2488457共3个位点的基因多态性。方法收集贵阳医学院附属白云医院和贵阳医学院附属医院血液科共100例ITP患者(ITP组)和100例健康体检人群(对照组)的外周血,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测PTPN22基因+1858位点(rs2476601)和3′UTR区rs3811021位点,序列特异性引物聚合酶链反应(PCR-SSP)检测启动子-1123位点(rs2488457)的单核苷酸多态性,并对结果进行统计学分析。结果 ITP患者与对照组PTPN22基因+1858位点均为C等位基因,未检测到T等位基因,无单核苷酸多态性(R620W)存在。PTPN22基因rs3811021位点TT、CT、CC共3个基因型在ITP患者中的频率与对照组比较差异无统计学意义(χ2=3.686,P=0.158)。T等位基因、C等位基因在两组人群中的频率比较差异无统计学意义(χ2=2.828,P=0.093)。PTPN22基因-1123位点(rs2488457)GG、GC、CC 3种基因型在ITP中的频率与对照组比较差异无统计学意义(χ2=1.802,P=0.406)。C等位基因和G等位基因在两组人群中的频率比较差异无统计学意义(χ2=0.003,P=0.954)。按性别因素分别比较ITP患者与对照者rs3811021和rs2488457两个SNP位点的基因型及等位基因频率,证实ITP组和对照组女性人群中3种基因型及等位基因频率比较差异无统计学意义(P<0.05),两组男性患者比较差异无统计学意义(P<0.05)。结论中国贵州汉族人群不存在PTPN22基因rs2476601的单核苷多态性;存在rs3811021和rs2488457位点的单核苷多态性,但无性别差异,且与ITP的发病无显著相关性。

Objective To investigate the single-nucleotide polymorphisms of PTPN22 gene rs2476601,rs3811021 and rs2488457in patients with primary immune thrombocytopenia（ITP）.Methods Totally 100 patients with ITP and 100 cases as control from Department of Hematology,the Affiliated Baiyun Hospital of Guiyang Medical College and the Affiliated Hospital of Guiyang Medical College were collected.PTPN22gene＋1858loci（rs2476601）and 3′UTR region rs3811021 loci were detected by PCR-RFLP,the promoter-1123loci（rs2488457）were detected by PCR-SSP,and the results were statistically analyzed.ResultsPTPN22gene＋1858locus in ITP patients and control group were all C allele,T allele was detected,and there was no single nucleotide polymorphisms（R620W）exist.The frequency of PTPN22 gene rs3811021locus TT,CT,CC three genotypes in ITP patients and control group had no significant difference（χ^2=3.686,P=0.158）.The frequency of T allele,C allele in ITP patients and control group had no significant difference（χ^2=2.828,P=0.093）.The frequency of PTPN22-1123gene（rs2488457）GG,GC,CC three genotypes in ITP patients and control group had no significant difference（χ^2=1.802,P=0.406）.The frequency of C allele and G allele in ITP patients and control group had no significant difference（χ^2=0.003,P=0.954）.According to the gender factors,in females,the genotype and allele frequency of SNP loci rs3811021 and rs2488457in ITP patients and control group had no significant difference（P〈0.05）,so as in males（P〈0.05）.Conclusion PTPN22 gene rs2476601this SNP site does not exist in Guizhou Han population,The addition of two SNP loci of PTPN22gene（rs3811021,rs2488457）exists polymorphism,but the two SNP loci has no sex difference,the onset and ITP in Guizhou Han population had no significant correlation.