Results
| PMID | 21495799 |
| Gene Name | COMT |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | COMT val/met polymorphism (rs4680) |
| Population size | 239 |
| Population details | 239 (71 infertile women without endometriosis, and 168 fertile women as control group) |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Endometriosis-related infertility |
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Gynecol Endocrinol. 2011 Dec;27(12):1099-102. doi: 10.3109/09513590.2011.569797. Christofolini, Denise Maria| Teles, Juliana Souto| Vilarino, Fabia Lima| Andre, Gustavo Mendonca| Bianco, Bianca| Barbosa, Caio Parente Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo Andre/SP, Brazil. Estrogens are important factors in the development of endometriosis, and can induce cell proliferation and stimulate cell division. COMT constitutes a crucial element in estrogen metabolism and has been suggested to be involved in the development of endometriosis. This study had the objective of to determine whether the presence of COMT val/met polymorphism (rs4680) increases the risk to endometriosis in infertile patients. A case-control study that included 198 infertile women with endometriosis, 71 infertile women without endometriosis, and 168 fertile women as control group of the Faculdade de Medicina do ABC. COMT (val/met) genotypes were identified by real time PCR (genotyping TaqMan assay) and the results were analyzed statistically by chi(2) test. The data showed no statistical difference in the distribution of COMT genotypes neither between infertile patients with endometriosis and control group (p = 0.567), regardless disease degree, nor between infertile patients without endometriosis and control group (p = 0.460). In conclusion, the COMT val/met polymorphism is not associated to endometriosis-related infertility in the Brazilian population evaluated. However, more studies in larger populations are necessary to confirm these results. Mesh Terms: Adult| Brazil| Case-Control Studies| Catechol O-Methyltransferase/*genetics/physiology| Endometriosis/*complications/genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| Infertility, Female/etiology/*genetics| |
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