Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Abstract
Polycystic ovary syndrome (PCOS) is an endocrinopathy that affects 5% to 10% of women. It is the most common reproductive disorder in women and is characterised by menstrual irregularity, hyperandrogenism, and polycystic ovarian morphology. This disorder also involves a major risk factor for non-insulin dependent diabetes, hypertension, and cardiovascular disease. \n \nWhile PCOS is believed to have a complex genetic component, the exact nature of this component remains largely unknown. However, Genome Wide Association Studies (GWAS) and exome sequencing have begun to generate statistically significant and replicable data from which more specific investigations can be launched. PCOS related variants highlighted by these methods can then be the subject of functional studies that seek to identify the functional role that these variants may be involved in. The efficient uncovering of variants, including exomic identification and functional characterisation of the genetic lesions, can aid genetic diagnosis of PCOS, which in turn will help achieve better patient outcomes and provide the basis for targeted therapies. \n \nThe focus of this study was that efficient genetic diagnosis of PCOS will be assisted by an increased understanding of the aetiology of PCOS gained via exome sequencing identification of related individuals and functional characterisation of variants. To this end, related individuals with clinically defined PCOS were recruited and exome sequencing carried out to…
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