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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 whether there is any difference between Uygur and Han nationality. Methods According to the results of association analysis of pelvic organ prolapse (POP), three SNP sites of ERα gene (rs2228480, rs17847075, rs2234693) and three SNP sites of ERβ gene (rs2987983, rs1271572, rs1256049) , SNaP-shot genotyping method for pelvic organ prolapse patients (Uygur 45 cases, Han 44 cases) and no pelvic floor dysfunction patients (Uygur 55 cases, Han 53 cases) estrogen gene Point typing, assessing the association between single nucleotide polymorphisms and the disease and the difference in expression between Uygur and Han. Results (1) The genotype and allele frequencies of SNPs related to 6 estrogen related receptors were not significantly different between the experimental group and the control group, the Uygur experimental group and the control group, the Han experimental group and the control group (P> 0.05). (2) The expression of estrogen receptor rs17847075 and rs1256049 in Uighur and Han POP patients was significantly different (P <0.05). The other genotypes and allele frequencies of rs2228480, rs2234693, rs2987983, rs1271572 There was no significant difference between the two ethnic groups (P> 0.05). Conclusion The above six estrogen receptor-related SNPs (rs2228480, rs17847075, rs2234693, rs2987983, rs1271572, rs1256049) were not associated with pelvic organ prolapse. Polymorphism of rs17847075 and rs1256049 alleles in Uygur and Han ethnic POP patients is racially different.