[Association of the H770H of PR gene polymorphism with susceptibility to endometriosis].
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).


CONCLUSIONS
There is significant association between the polymorphism of PR H770H and genetic susceptibility to EM in southern Han Chinese women.
Department of Gynecology, Guangdong Province Maternal and Child Health Hospital, Guangzhou 511400, China.
Ting
T
Mao
Xiping
X
Luo
Xiaochang
X
Tan
Xuefang
X
Jiang
Yufeng
Y
Wang
Yuxin
Y
Huang
Xin
X
Zhao
Yonggui
Y
Fu
Xingqiang
X
Rao
510405 Guangzhou, Department of Gynecology, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Email: zonglili2012@qq.com.
Lili
L
Zong
D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D002681:China; D016889:Endometrial Neoplasms / Q000235:genetics*; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*