Association of endometriosis risk and genetic polymorphisms involving biosynthesis of sex steroids and their receptors: an updating meta-analysis

作者:Hu, Xueying; Zhou, Yang; Feng, Qiming; Wang, Rensheng; Su, Li; Long, Jianxiong; Wei, Bo*
来源:European Journal of Obstetrics & Gynecology and Reproductive Biology, 2012, 164(1): 1-9.
DOI:10.1016/j.ejogrb.2012.05.008

摘要

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 ER alpha-Pvull 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.