新疆维吾尔族、汉族女性盆腔器官脱垂患者雌激素受体SNP位点差异性分析

Dimensional analysis of estrogen receptor SNP loci differences in Xinjiang between Uyghur and Han women with pelvic organ prolapse

目的探讨雌激素受体基因多态性与盆腔器官脱垂的相关性及维吾尔族、汉族之间是否存在差异性。方法根据已有的盆腔器官脱垂(POP)基因组关联分析研究结果,选取ERα基因的3个SNP位点(rs2228480、rs17847075、rs2234693),ERβ基因的3个SNP位点(rs2987983、rs1271572、rs1256049),采用SNaP-shot基因分型方法对盆腔器官脱垂患者(维吾尔族45例,汉族44例)与无盆底功能障碍性疾病的患者(维吾尔族55例,汉族53例)进行雌激素基因位点分型,评估单核苷酸多态性与该疾病之间的相关性及维吾尔族和汉族之间的表达差异。结果 (1)6个雌激素相关受体相关SNP位点基因型和等位基因频率在试验组和对照组,维吾尔族试验组和对照组,汉族试验组和对照组之间均无统计学意义(P>0.05)。(2)雌激素受体基因rs17847075和rs1256049在维吾尔族与汉族POP患者中的表达差异有统计学意义(P<0.05),其余rs2228480、rs2234693、rs2987983、rs1271572等位点基因型及等位基因频率在两民族之间差异无统计学意义(P>0.05)。结论以上6个雌激素受体相关SNP位点(rs2228480、rs17847075、rs2234693、rs2987983、rs1271572、rs1256049)与盆腔器官脱垂疾病的发生均无相关性。维吾尔族、汉族POP患者的rs17847075和rs1256049位点等位基因多态性具有种族差异性。

Objective To investigate the relationship between estrogen receptor gene polymorphism and pelvic organ prolapse and differences between Uyghur and Han women. Methods According to the analysis of existing research results of POP genome association, estrogen receptor a （rs2228~80, rs17847075, rs2234693）, estrogen receptor 13（rs2987983, rs1271572, rs1256049） were selected and geno- typed in 197 POP patients containing 45 Uyghur and 44 Han women and non POP patients containing 55 Uyghur and 53 Han women subjects by SNaP-shot reaction. Results （1） The above six estrogen related receptor related SNP genotype and allele frequency between the case group and the control group, between the l_lyghur case group and control group, between the Han case group and the control group had no statis- tical significance （P〉0.05）. （2） The differences of genotype and allele frequency in estrogen receptor gene rs17847075 and rs1256049 locus were statistically significant between the two ethic patients （ P〈0.05）, while the differences of genotype and allelic gene frequency in rs2228480, rs2234693, rs2987983, rs1271572 between the Uyghur and Han ethnic POP patients was no significant difference （P〉0.05）. Con-clusion The six estrogen receptor related SNP loci （rs2228480, rs17847075, rs2234693, rs2987983, rs1271572, rs1256049） were not associated with pelvic organ prolapse disease. There were racial differences in rs17847075 and rs1256049 allele polymorphism between the Uyghur and Han nationality pa- tients with POP.