Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women. It can manifest in adolescence, affecting up to 8% of adolescents. Long-term health consequences characteristic of PCOS are impaired fertility, increased risk of type 2 diabetes, metabolic disorders and cardiovascular disease. All of these sequelae are exacerbated by increased body weight, a major feature of PCOS. The protein encoded by the YAP1 gene plays a key role in one of the pivotal mechanisms that govern cellular/organismal metabolism and contributes to the pathogenesis of metabolic diseases.
Aim: To compare the prevalence of single nucleotide variants (SNVs) in the YAP1 gene among adolescents with PCOS, adolescents at risk of PCOS development and healthy adolescents, and assess their association with the clinical characteristics of PCOS.
Results: The frequencies of the five investigated YAP1 gene SNVs (rs11225161, rs11225166, rs3858420, rs11225138 and rs79981660) were not significantly different among adolescents with PCOS, risk group patients and healthy controls. Furthermore, none of the SNVs contributed to the clinical characteristics of adolescents with PCOS and adolescents at risk of PCOS development.
Conclusions: No significant associations were found between PCOS in adolescents and the five investigated SNVs in the YAP1 gene.
Keywords: PCOS; YAP1 gene; adolescent.