Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 24965973
Gene Name CYP1B1
Condition Endometriosis
Association Associated
Mutation COMT 158G/A, CYP1B1 432C/G
Population size 3,827
Population details 3827 (1770 cases, 2057 controls)
Sex Female
Associated genes COMT, CYP1B1
Other associated phenotypes Endometriosis, adenomyosis
COMT 158G/A and CYP1B1 432C/G polymorphisms increase the risk of endometriosis and adenomyosis: a meta-analysis.

Eur J Obstet Gynecol Reprod Biol. 2014 Aug;179:17-21. doi:

Tong, Xiang| Li, Zhenzhen| Wu, Yao| Fu, Xiaowei| Zhang, Yonggang| Fan, Hong

West China School of Medicine/West China Hospital, Sichuan University, Chengdu, Sichuan, China.| West China School of Medicine/West China Hospital, Sichuan University, Chengdu, Sichuan, China.| West China School of Medicine/West China Hospital, Sichua

OBJECTIVE: Catechol-O-methyltransferase (COMT) 158G/A and cytochrome P450-1B1 (CYP1B1) 432C/G gene polymorphisms have been associated with the risk of endometriosis and adenomyosis, but results remain inconclusive. The aim of this study was to investigate the relationships between these polymorphisms and the risk of endometriosis and adenomyosis by meta-analysis. STUDY DESIGN: A search was performed using PubMed, Embase, the Chinese Journals Full-text Database and Wanfang databases up to September 2013. Odds ratios (OR) and 95% confidence intervals (95% CI) were used to evaluate the relationships. Statistical analyses were undertaken using STATA Version 11.0. RESULTS: The literature search identified 10 articles, involving 1770 cases and 2057 controls. The two polymorphisms were found to be significantly associated with the risk of endometriosis and adenomyosis (COMT 158 G/A: AA+AG vs GG: OR 1.20, 95% CI 1.01-1.43; CYP1B1 432 C/G: GG+GC vs CC: OR 1.28, 95% CI 1.01-1.68). In the subgroup analysis by ethnicity, the two polymorphisms were significantly associated with the risk of endometriosis and adenomyosis among Asian populations but not among Caucasian populations. CONCLUSIONS: COMT 158G/A and CYP1B1 432C/G polymorphisms may contribute to the risk of endometriosis and adenomyosis, particularly in Asian populations. Larger studies are required to evaluate this association further.

Mesh Terms: Adenomyosis/*genetics| Asian Continental Ancestry Group/genetics| Catechol O-Methyltransferase/*genetics| Endometriosis/*genetics| Female| *Genetic Predisposition to Disease| Humans| *Polymorphism, Single Nucleotide|DA 2015/04/04 06:00