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目的:探讨E-钙粘蛋白(E-cadherin,CDH1)基因遗传变异与子宫内膜异位症(EMS)发病风险的关系。方法:采用病例-对照研究方法,DNA测序技术分析CDH1基因启动子区、所有外显子和3’非翻译区(3’-UTR)SNPs位点,从中筛选出6个候选位点(rs16260、rs28372783、rs1801552、rs1801026、rs8049282、rs13689)。扩大样本,通过聚合酶链反应-连接酶检测反应(PCR-LDR)方法检测651例EMS患者(病例组)和655名健康对照妇女(对照组)6个SNPs位点的基因型频率分布情况。结果:DNA测序结果显示CDH1基因启动子区、所有外显子和3’-UTR的17个SNP位点中15个位点在NCBI数据库中有记载,而2个位点尚无相关记载,位于3’-UTR+759和3’-UTR+1445。统计学分析显示6个候选的SNPs基因型和等位基因在病例组和对照组间的频率分布均无统计学差异(P>0.05)。但进一步分层分析显示,rs8049282 C/T多态可能与EMS患者的原发不孕相关,即与CT+TT基因型相比,CC基因型可显著增加EMS患者原发不孕的风险(OR=2.25,95%CI=1.32~3.83)。结论:CDH1基因启动子区、外显子和3’-UTR区的遗传变异可能与中国北方汉族妇女EMS的发病风险无关,但rs8049282 C/T多态可能是EMS患者原发不孕的潜在危险因素。
Objective: To investigate the relationship between the genetic variation of E-cadherin (CDH1) gene and the risk of endometriosis (EMS). Methods: Six candidate SNPs were selected from the CDH1 gene promoter region, all exons and 3’-untranslated region (3’-UTR) by case-control study and DNA sequencing technique. Six candidate sites (rs16260, rs28372783, rs1801552, rs1801026, rs8049282, rs13689). Samples were amplified and genotype frequency distributions of 6 SNPs in 651 EMS patients (case group) and 655 healthy control women (control group) were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR) method. Results: The results of DNA sequencing showed that 15 of the 17 SNP loci in CDH1 gene promoter region, all exons and 3’-UTR were reported in the NCBI database, but there were no records of the two loci 3’-UTR + 759 and 3’-UTR + 1445. Statistical analysis showed that there was no significant difference in the frequency distribution of genotypes and alleles between the six candidate SNPs and the control group (P> 0.05). However, further stratification analysis showed that rs8049282 C / T polymorphism may be associated with primary infertility in patients with EMS, ie CC genotype may significantly increase the risk of infertility in EMS patients compared with CT + TT genotypes (OR = 2.25, 95% CI = 1.32 ~ 3.83). CONCLUSION: The genetic variation of CDH1 gene promoter region, exon and 3’-UTR region may not be associated with the risk of EMS in Han women from northern China, but rs8049282 C / T polymorphism may be a potential risk of primary infertility in EMS patients factor.