Open AccessPolymorphic variants of CYP 17 and CYP 19A and risk of infertility in endometriosis
Author(s) -
Szczepańska Malgorzata,
Wirstlein Przemyslaw,
Skrzypczak Jana,
Jagodziński Paweł P.
Publication year - 2013
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.1111/aogs.12210
Subject(s) - endometriosis , genotype , infertility , odds ratio , snp , medicine , single nucleotide polymorphism , allele , allele frequency , case control study , gynecology , oncology , endocrinology , biology , genetics , gene , pregnancy
Objective Endometriosis is recognized as an estrogen‐dependent disease. There are conflicting data demonstrating single nuclear polymorphisms ( SNP s) of CYP 17 and CYP 19 steroidogenic genes as related to endometriosis risk. We assessed the CYP 17 5′‐untranslated region ‐34 A/G (rs743572) and CYP 19 Ex10 + C1558T (rs10046) SNP s 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 SNP s CYP 17 ‐34 A/G and CYP 19 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 CYP 17 and CYP 19 SNP s. 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 CYP 17 ‐34 G variant, previously associated with increased 17β‐estradiol production, displayed a contribution to stage I–II endometriosis in women from a Polish population. Increased 17β‐estradiol concentration in carriers of the CYP 17 ‐34 G variant might contribute to endometriosis and associated pathological processes.