PGR基因多态性与复发性自然流产的关联性研究

Association of PGR Polymorphism with Recurrent Spontaneous Abortion

目的 探讨孕酮受体基因(PGR)rs590688、rs1042838、rs11224592 3个单核苷酸位点与复发性自然流产(RSA)的关联性。方法 采用Taq Man探针基因分型方法检测并比较RSA患者(病例组212例)和正常女性(对照组197名)的PGR基因3个SNPs位点基因型及等位基因频率的分布情况。结果 PGR基因rs590688、rs1042838、rs11224592位点基因型及等位基因频率在病例组和对照组间比较,差异无统计学意义(P>0.05);PGR基因rs590688、rs11224592;2个位点构建的GC单倍型(P<0.05)及PGR基因rs590688、rs11224592、rs1042838 3个位点构建的GCG单倍型(P<0.05)在病例组和对照组间比较,差异有统计学意义。结论 PGR基因rs590688、rs11042838、rs11224592位点的基因多态性与宁夏汉族女性RSA的易感性无关;PGR基因rs590688、rs11224592两个位点构建的GC单倍型及PGR基因rs590688、rs11224592、rs1042838 3个位点构建的GCG单倍型可能是RSA的保护性因素。

Objective To investigate the association of three single nucleotide polymorphism（rs590688,rs1042838,rs11224592）of progesterone receptor gene（PGR） with recurrent spontaneous abortion（RSA）. Methods The distribution of thegenotype and allele frequency of PGR 3 SNPs in case group（212 patients with RSA） and normal control group（197 cases） was detectedby using Taq Man probe genotyping method. Results There were no significant differences in the genotype and allele frequency of PGR rs590688,rs1042838,rs11224592 between case and control groups（P〉0.05）. There were statistically significant differences for GC haplotypescomposed of PGR rs590688,rs11224592（P〈0.05） and GCG haplotypes of PGR rs590688,rs11224592,rs1042838（P〈0.05）between case group and control group. Conclusion The genetic polymorphisms of PGR rs590688,rs11042838,rs11224592 are not associated with susceptibility to RSA in Ningxia Han women. GC haplotypes constructed by PGR rs590688,rs11224592 and GCG haplotypes constructed by PGR rs590688,rs11224592,rs1042838 may be the protective factors of RSA.