Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

February 2018 in “ Genetics research international ”

Roshan Dadachanji, Nuzhat F. Shaikh, Srabani Mukherjee

hyperandrogenemia PCOS CYP11A1 CYP17 CYP19 AR androgen synthesis androgen action CAG repeat length SHBG GWAS polycystic ovary syndrome androgens genome-wide association studies

TLDR Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.

The document reviewed the genetic variants associated with hyperandrogenemia in PCOS, a complex endocrine disorder. It discussed the role of prenatal androgen exposure and reviewed several genes like CYP11A1, CYP17, CYP19, and AR, which are involved in androgen synthesis and action. While some polymorphisms were associated with PCOS risk, such as the CYP11A1 gene polymorphism in Caucasian populations, others like the CYP17 gene polymorphism showed inconsistent associations. The document also examined AR gene's CAG repeat length and SHBG gene polymorphisms, noting their complex associations with PCOS. It highlighted the need for further research, including GWAS, to fully understand the genetic basis of PCOS and improve therapeutic strategies.

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