Objective: 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 (χ(2)=7.386, P=0.007; χ(2)=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.