Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis

Szczepańska M, Malgorzata Szczepańska, Małgorzata Szczepańska, Wirstlein P, Przemyslaw Wirstlein, Przemysław Wirstlein, Jana Skrzypczak, Skrzypczak J, Paweł P. Jagodzińśki, Paweł P. Jagodziński
Acta obstetricia et gynecologica Scandinavica · 2013 · vol. 92(10) , pp. 1188–1193 · doi:10.1111/aogs.12210 · PMID:23809139 · W2069213593
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The CYP17 -34 G variant was associated with an increased risk of stage I-II endometriosis in women from a Polish population.

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Abstract

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 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 CYP17 -34 G variant might contribute to endometriosis and associated pathological processes.

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Outcome instruments

rASRM

Condition tags

endometriosisinfertility

MeSH descriptors

Aromatase Endometriosis Infertility, Female Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Steroid 17-alpha-Hydroxylase Adult Adult Aromatase Aromatase Case-Control Studies Case-Control Studies Endometriosis Endometriosis Endometriosis Female Female Genetic Markers Genetic Markers Genotype

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (36)

Cited by (18)

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