Association of the H770H of PR gene polymorphism with susceptibility to endometriosis
10.3760/cma.j.issn.0529-567x.2015.03.006
- VernacularTitle:PR基因H770H位点多态性与子宫内膜异位症易感性的关联研究
- Author:
Ting MAO
;
Xiping LUO
;
Xiaochang TAN
;
Xuefang JIANG
;
Yufeng WANG
;
Yuxin HUANG
;
Xin ZHAO
;
Yonggui FU
;
Xingqiang RAO
;
Lili ZONG
- Publication Type:Journal Article
- Keywords:
Endometriosis;
Receptors,progesterone;
Polymorphism,single nucleotide;
Genetic predisposition to disease;
High resolution melting
- From:
Chinese Journal of Obstetrics and Gynecology
2015;(3):194-197
- CountryChina
- Language:Chinese
-
Abstract:
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 (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.
