DNMT3L基因多态性与子宫内膜异位症合并不孕关系

Association between DNMT3L gene polymorphism of women with endometriosis and their infertility

目的:探讨DNMT3L基因多态性与子宫内膜异位症合并不孕的相关性。方法:选取2016年6月—2018年11月在本院确诊的子宫内膜异位症合并不孕症患者137例作为病例组,选取同期体检137例健康女性作为对照组。采用聚合酶链式反应(PCR)检测DNMT3L基因多态性。采用直接基因计数法计算基因型和等位基因频率,使用Pearson拟合优度卡方统计量评估Hardy-Weinberg(HWE)平衡程度。使用Fisher's检验评估病例组和对照组等位基因和基因型频率的差异。结果:病例组与对照组基因型频率无HWE平衡差异,rs8129776和rs7354779基因多态性无差异(均P>0.05),而rs113593938和rs2276248基因多态性有差异(P<0.05)。在rs113593938多态性的显性和隐性遗传模型中,病例组相较于对照组的OR(95%CI)分别为0.37(0.18~0.79)和2.69(1.23~5.88),在rs2276248多态性的显性和隐性遗传模型中,病例组相较于对照组的OR(95%CI)分别为2.44(1.18~5.06)和0.34(0.15~0.81)。结论:DNMT3L rs8129776和rs7354779位点的基因多态性与子宫内膜异位症合并不孕无关,而rs113593938位点的隐性基因模型和rs2276248显性基因模型可能与子宫内膜异位症合并不孕有关。

Objective:To investigate the association between DNMT3L gene polymorphism of women with endometriosis and their infertility.Methods:During June 2016 to November 2018,137 infertility women with endometriosis were selected in study group,and 137 healthy women were selected in control group during the same time.The polymerase chain reaction(PCR)was used to measure DNMT3L gene polymorphism.Genotype and allele frequencies were calculated by direct gene counting method,and the coincidence degree of Hardy-Weinberg(HWE)balance was evaluated by Pearson's goodness-of-fit chi-square statistics.Fisher's test was used to assess the differences of allele and genotype frequencies of the women between the study group and the control group.Results:There was no significant difference in HWE balance of genotype frequency of the women between the study group and the control group(P>0.05).In addition,there were no statistical significant differences in the rates of rs8129776 and rs7354779 gene polymorphism of the women between the two groups(P>0.05),while there were statistical significant differences in the rates of rs113593938 and rs2276248 gene polymorphism of the women between the two groups(P<0.05).In the dominant and recessive genetic models of rs113593938 polymorphism,the OR and 95%CI of the study group were 0.37 and 0.18-0.79,and those of the control group were 2.69 and 1.23-5.88.In the dominant and recessive genetic models of rs2276248 polymorphism,the OR and 95%CI of the study group were 2.44 and 1.18-5.06,and those of the control group were 0.34 and 0.15-0.81.Conclusion:The gene polymorphism of rs8129776 and rs7354779 site of DNMT3L is not correlated with infertility of the women with endometriosis,but the recessive genetic model of rs113593938 and the dominant gene model of rs2276248 maybe correlated with infertility of the women with endometriosis.