CYP17 and CYP19 gene polymorphisms in women affected with endometriosis

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This study investigated the association between polymorphisms in the CYP17 and CYP19 genes and endometriosis in women.

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Abstract

ObjectiveTo investigate whether CYP17 T>C polymorphism and polymorphisms C1558T and Val80 of CYP19 are related to endometriosis.DesignClinical study.Patient(s)Women affected with endometriosis (n = 104) and control group (n = 86). The diagnosis of endometriosis was confirmed by the histologic examination of the endometriotic lesions.Result(s)In patients affected with endometriosis, we observed that AA and CC genotypes were significantly represented in Val80 and C1558T polymorphisms of CYP19.Conclusion(s)The molecular mechanisms that underlie the development of endometriosis are unclear. Both environmental and genetic factors are involved in the pathogenesis of the disease. The inheritable susceptibility to endometriosis justifies the growing interest in identifying genes and/or genetic polymorphisms that predispose women to an increased risk of developing endometriosis. The identification of single-nucleotide polymorphism (SNP), probably linked to endometriosis, could help to explain its pathogenesis.

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Condition tags

endometriosis

MeSH descriptors

Aromatase Endometriosis Ovarian Diseases Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Steroid 17-alpha-Hydroxylase Adolescent Adult Aromatase Case-Control Studies Endometriosis Female Gene Frequency Genetic Predisposition to Disease Humans Middle Aged Ovarian Diseases Steroid 17-alpha-Hydroxylase Young Adult

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europepmc
last seen: 2026-07-26T06:08:39.051465+00:00
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