Results
| PMID | 19199255 |
| Gene Name | CYP1B1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | P450 1B1 (CYP1B1) in exon 2 codon 119 (G-T), exon 3 codon 432 (C-G) |
| Population size | 100 |
| Population details | 100 (55 cases of endometriosis, 45 cases of normal controls) |
| Sex | Female |
| Other associated phenotypes |
Endometriosis |
|
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):66-9. doi: Li, Yi-ge| Wang, Xin Department of Obstetrics and Gynaecology, the Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China. OBJECTIVE: To study the association between gene polymorphisms of cytochrome P450 1B1 (CYP1B1) in exon 2 codon 119 (G-T) and exon 3 codon 432 (C-G) and the susceptibility to endometriosis. METHODS: Allele-specific polymerase chain reaction was used to analyze the gene polymorphisms in 55 cases of endometriosis and 45 cases of normal controls. RESULTS: The frequencies of alleles G and T in codon 119 G/T of CYP1B1 gene showed a significant difference between the endometriosis group and the control group (P<0.05), with an odds ratio of 2.061. There was a significant difference in the frequencies of genotypes G/G, G/T and T/T between the two groups (P<0.05). Compared with wild-type G/G, the susceptibility of endometriosis with genotypes T/T and G/T was 2.625 and 3.214 fold, respectively. In the population with combined genotypes of CYP1B1 codon 119 GT or GG-codon 432 CC, statistically significant difference was observed between cases and controls (GT+CC vs GG+CC, OR=2.976, P<0.05). CONCLUSION: The gene polymorphisms of CYP1B1 in exon 2 codon 119 may be a genetic risky factor for endometriosis. The combination of CYP1B1 -GT and CYP1B1 -CC may act as a risky factor in the development of endometriosis. Mesh Terms: Adult| Aryl Hydrocarbon Hydroxylases/*genetics| Case-Control Studies| Cytochrome P-450 CYP1B1| Endometriosis/*genetics| Exons/genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Humans| Middle Aged| Polymerase Chain Reaction| |
|