Expressive

rs112867071 - TMEM220-AS1 - RN7SL601P

Magnitude 2.2 · 1 study on file

Reported associations

  • Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 38408933

    ABSTRACT: Background Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder with a substantial genetic component. However, the clinical manifestations of PCOS are heterogeneous with notable differences between lean and obese women, implying a different pathophysiology manifesting in differential body mass index (BMI). We performed a meta-analysis of genome-wide association study (GWAS) data from six well-characterised cohorts, using a case-control study design stratified by BMI, aiming to identify genetic variants associated with lean and overweight/obese PCOS subtypes. Results The study comprised 254,588 women (5,937 cases and 248,651 controls) from individual studies performed in Australia, Estonia, Finland, the Netherlands and United States of America, and separated acc

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • PCOS hormonal panel Moderate

    Genetic predisposition to PCOS in lean individuals; hormonal assays are essential for diagnosis and baseline assessment

    Testosterone, DHEA-S, LH, FSH, fasting glucose, fasting insulin if not recent

Discuss with your doctor

  • PCOS genetic risk and monitoring Moderate

    Carrier of risk allele for PCOS; physician awareness enables proactive monitoring and earlier intervention if features develop

    Share genotype result and discuss PCOS risk, particularly given lean body habitus

Screening

  • polycystic ovary syndrome evaluation Moderate

    Significant GWAS association with PCOS in lean individuals (BMI<=25) where diagnosis is often delayed due to atypical presentation

    Clinical evaluation including pelvic ultrasound and hormonal panel if not recently completed