摘要目的：探讨中国汉族妇女PR基因第5外显子区H770H位点单核苷酸多态性（SNP）与子宫内膜异位症（内异症）遗传易感性的相关性。方法收集2008年10月—2010年4月经手术病理检查确诊的431例内异症患者（内异症组）和499例无内异症的妇女（对照组）的外周血，采用荧光定量PCR为基础的高分辨率熔解曲线分析（HRM）技术检测PR基因H770H位点的SNP，通过病例对照研究评估SNP与内异症的相关性。结果内异症组和对照组PR H770H位点等位基因C、T的频率分别为97.9%（844/862）、2.1%（18/862）和99.4%（992/998）、0.6%（6/998），CC、CT、TT基因型频率分别为95.8%（413/431）、4.2%（18/431）、0和98.8%（493/499）、1.2%（6/499）、0，两组分别比较，差异均有统计学意义（χ2=7.386，P=0.007；χ2=8.135，P=0.004）。携带等位基因C使内异症发病风险降低（OR=0.986，95%CI为0.976~0.996），而携带T等位基因使其增高3.319倍（OR=3.319，95%CI为1.323~8.325）；携带基因型CC使内异症发病风险降低（OR=0.970，95%CI为0.949~0.991），而携带CT基因型使其增高3.473倍（OR=3.473，95%CI为1.391~8.671）。结论中国汉族妇女PR基因H770H位点多态性与内异症遗传易感性相关。

abstractsObjective To investigate the association of PR gene exon 5 region H770H (rs1042839) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (EM) in southern Han Chinese women. Methods Totally 431 EM patients and 499 non-EM women were collected and separated into EM group and control group, that all cases were confirmed by operation and pathology. A case-control study was performed in EM and control groups to evaluate the association of these SNP with the susceptibility to EM by using a fluorescent quantitative PCR-based high resolution melting (HRM) method. Results The C and T of PR H770H allele frequencies among the EM and control groups were 97.9%(844/862), 2.1% (18/862) and 99.4% (992/998), 0.6% (6/998), respectively. The CC, CT and TT of PR H770H genotype frequencies among the EM and control groups were 95.8%(413/431), 4.2%(18/431), 0 and 98.8%(493/499), 1.2%(6/499), 0, respectively. There were statistical significances in the PR H770H alleles and genotypes distributions between the two groups (χ2=7.386, P=0.007;χ2=8.135, P=0.004). Carrying allele C reduced the risk of EM (OR=0.986, 95%CI: 0.976-0.996), while carrying allele T enhanced the risk of EM (OR=3.319, 95%CI: 1.323-8.325); carrying genotype CC reduced the risk of EM 0.970 time (OR=0.970, 95%CI: 0.949-0.991), whereas carrying genotype CT enhanced the risk of EM 3.473 times (OR=3.473, 95%CI:1.391-8.671). Conclusion There is significant association between the polymorphism of PR H770H and genetic susceptibility to EM in southern Han Chinese women.