Results
| PMID | 23809139 |
| Gene Name | CYP17A1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | CYP17 -34 A/G and CYP19 Ex10 + C1558T |
| Population size | 312 |
| Population details | 312 (115 women with diagnosed stage I-II endometriosis, 197 fertile women as controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | CYP17,CYP19 |
| Other associated phenotypes |
Endometriosis |
|
Acta Obstet Gynecol Scand. 2013 Oct;92(10):1188-93. doi: 10.1111/aogs.12210. Epub Szczepanska, Malgorzata| Wirstlein, Przemyslaw| Skrzypczak, Jana| Jagodzinski, Pawel P Division of Reproduction, Department of Obstetrics, Gynecology and Gynecological Oncology, Poznan University of Medical Sciences, Poznan, Poland. OBJECTIVE: Endometriosis is recognized as an estrogen-dependent disease. There are conflicting data demonstrating single nuclear polymorphisms (SNPs) of CYP17 and CYP19 steroidogenic genes as related to endometriosis risk. We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 + C1558T (rs10046) SNPs in stage I-II endometriosis. DESIGN: Case-control study. SETTING: Division of reproduction at a university department in Poland. POPULATION: A total of 115 women with diagnosed stage I-II endometriosis according to the revised American Society for Reproductive Medicine (rASRM) classification and 197 fertile women as controls. METHODS: The SNPs CYP17 -34 A/G and CYP19 Ex10 + C1558T were identified by high-resolution melting curve analysis. MAIN OUTCOME MEASURES: Genotype prevalence and odds ratio for recessive and dominant genetic model for CYP17 and CYP19 SNPs. RESULTS: We observed a significantly increased CYP17 GG and GA genotype frequency in women diagnosed with rASRM stage I-II endometriosis compared with fertile women (OR = 2.4; 95% CI 1.4-4.2, p = 0.002). We also found a significantly increased CYP17 G allele frequency in cases compared with controls (OR = 1.6; 95% CI 1.2-2.2, p = 0.004). There were no significant differences in the distribution of the CYP17 GG genotype and CYP19 Ex10 + C1558T polymorphism between women diagnosed with rASRM stage I-II endometriosis and controls. CONCLUSION: The CYP17 -34 G variant, previously associated with increased 17beta-estradiol production, displayed a contribution to stage I-II endometriosis in women from a Polish population. Increased 17beta-estradiol concentration in carriers of the CYP17 -34 G variant might contribute to endometriosis and associated pathological processes. Mesh Terms: Adult| Aromatase/*genetics| Case-Control Studies| Endometriosis/complications/*genetics| Female| Genetic Markers| Genotype| Humans| Infertility, Female/etiology/*genetics| Poland| *Polymorphism, Single Nucleotide| Risk Factors| Severity of Ill |
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