Results
| PMID | 25403437 |
| Gene Name | HSD17B1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | A/G 85952 CYP2C19 (rs11592737), A/G 937 HSD17B1 (rs605059) |
| Population size | 1000 |
| Population details | 1000 (500 with endometriosis, 500 women without endometriosis) |
| Age | Patients: 34.3?±?4.0 yrs; Control: 32.0?±?4.0 yrs |
| Sex | Female |
| Associated genes | CYP2C19, HSD17B1 |
| Other associated phenotypes |
Endometriosis |
|
J Assist Reprod Genet. 2015 Jan;32(1):91-4. doi: 10.1007/s10815-014-0356-3. Epub Christofolini, Denise Maria| Amaro, Aline| Mafra, Fernanda| Sonnewend, Amanda| Bianco, Bianca| Barbosa, Caio Parente Instituto Ideia Fertil de Saude Reprodutiva, Morphology Department, FMABC, Avenida Principe de Gales, 821, Ed. CEPES, 2o. floor, room 101, Santo Andre, SP, Brazil, denise.christofolini@fmabc.br. PURPOSE: Estrogen metabolizing gene mutations can be associated with defective hormonal signaling leading to disease processes. Endometriosis is an estrogen dependent that can be influenced by defective signaling in the estrogen pathway. OBJECTIVES: To evaluate the association of A/G 85952 CYP2C19 and A/G 937 HSD17B1 gene polymorphisms with endometriosis through the investigation of a large Brazilian sample of women with endometriosis and a fertile control group. METHODS: Five hundred women with endometriosis and 500 women without endometriosis were tested for CYP2C19 and HSD17B1 polymorphisms, by TaqMan Real Time PCR. The results were statistically analyzed by chi-square, logistic regression and tested for Hardy-Weinberg equilibrium. RESULTS: The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients with endometriosis and control group showed a statistically significant difference (p = 0.0203) and for the HSD17B1 polymorphism (rs605059) differences were not significant (p = 0.0687). Comparing the stages I/II and III/IV endometriosis with the control group for the CYP2C19 we observed p = 0.0133 and p = 0.0564, respectively, and for HSD17B1 the values for p = 0.4319 and p = 0.0667. CONCLUSION: We observed that CYP2C19 polymorphism is associated with endometrisis in Brazilian women and can be considered a potential biomarker of the disease. Mesh Terms: Adult| Cytochrome P-450 CYP2C19/*genetics| Endometriosis/*genetics/pathology| Estrogens/genetics/metabolism| Female| Gene Frequency| *Genetic Association Studies| Genetic Predisposition to Disease| Humans| Infertility, Female/*genetics/pathology| |
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