Key result
Insulin signaling variants fail to yield a single convincing PCOS biomarker due to disease heterogeneity.
This review highlights that despite numerous genomic variants associated with PCOS, no single candidate gene related to insulin signaling has emerged as a definitive biomarker due to the disorder's heterogeneity.
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No single insulin signaling variant should guide PCOS care yet; leaves open need for heterogeneity-focused studies to identify reliable biomarkers.
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age causing not only reproductive but also metabolic anomalies. PCOS women present with ovulatory dysfunction, abnormal hormones, hyperandrogenemia, obesity, and hyperinsulinemia. It is a heterogeneous disorder which results from interaction of multiple genes along with environmental factors. Insulin resistance is a central key element contributing to PCOS pathogenesis and is further aggravated by obesity. Insulin regulates metabolic homeostasis and contributes to ovarian steroidogenesis. Candidate gene analyses have dissected genes related to insulin secretion and action for their association with PCOS susceptibility. Although a large number of genomic variants have been shown to be associated with PCOS, no single candidate gene has emerged as a convincing biomarker thus far. This may be attributed to large amount of heterogeneity observed in this disorder. This review presents an overview of the polymorphisms in genes related to insulin signaling and their association with PCOS and its related traits.
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Shaikh et al. (2014) conducted a review in Polycystic ovary syndrome (PCOS). Polymorphisms in genes related to insulin signaling was evaluated on Association with PCOS susceptibility and related traits. Although many genomic variants in insulin signaling genes are associated with PCOS, no single candidate gene has emerged as a convincing biomarker due to the disorder's large heterogeneity.
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