title: Association of endometriosis risk and genetic polymorphisms involving biosynthesis of sex steroids and their receptors: an updating meta-analysis.
abstract: The objective of our study is to assess the association of endometriosis risk and genetic polymorphisms involving biosynthesis of sex steroids and their receptors. A systematic search of three databases was conducted. Twenty-seven studies on the association of the cytochrome P450 subfamily 17 (CYP17), estrogen receptor gene (ER), progesterone receptor gene (PR), 17-beta-hydroxysteroid dehydrogenase type 1 gene (HSD17B1), and cytochrome P450 subfamily 19 (CYP19) polymorphisms with endometriosis risk were identified. When all groups were pooled, we found an association between HSD17B1 (A variant allele vs. G wild allele: odds ratio (OR)=1.42, 95% confidence interval (CI)=1.10-1.84, P=0.007) and PR (P2 variant allele vs. P1 wild allele, OR=1.43, 95% CI=0.99-2.08, P=0.058) polymorphisms and endometriosis risk, while failing to detect links with CYP17, ER, and CYP19 polymorphisms examined. In the subgroup analysis, a significant association of CYP17 and ERα-PvuII polymorphisms with endometriosis was found neither in a Caucasian population nor in an Asian population. The findings of our study suggest that HSD17B1 and PR polymorphisms are associated with an increased risk of endometriosis. Further investigation into the association between CYP17, ER, PR, HSD17B1, and CYP19 polymorphisms and endometriosis risk is warranted and should include larger sample sizes.
authors.affiliation: School of Public Health, Guangxi Medical University, Nanning, People's Republic of China.
authors.forename: Xueying
authors.initials: X
authors.lastname: Hu
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhou
authors.forename: Qiming
authors.initials: Q
authors.lastname: Feng
authors.forename: Rensheng
authors.initials: R
authors.lastname: Wang
authors.forename: Li
authors.initials: L
authors.lastname: Su
authors.forename: Jianxiong
authors.initials: J
authors.lastname: Long
authors.forename: Bo
authors.initials: B
authors.lastname: Wei
mesh_terms: D001141:Aromatase / Q000235:genetics; D044466:Asian People / Q000235:genetics; D004715:Endometriosis / Q000453:epidemiology / Q000235:genetics*; D004960:Estradiol Dehydrogenases / Q000235:genetics*; D005260:Female; D012739:Gonadal Steroid Hormones / Q000096:biosynthesis*; D006801:Humans; D011110:Polymorphism, Genetic; D011960:Receptors, Estrogen / Q000235:genetics; D011980:Receptors, Progesterone / Q000235:genetics*; D012306:Risk; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D012739:Gonadal Steroid Hormones; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; D004960:Estradiol Dehydrogenases; C513331:HSD17B1 protein, human; D001141:Aromatase; D013254:Steroid 17-alpha-Hydroxylase