Expressive

rs11453664 - ERBB4

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

  • Metabolic and reproductive hormone panel Moderate

    PCOS involves insulin resistance, dyslipidemia, and hormonal dysregulation; ERBB4 variants increase these risks particularly in overweight/obese individuals

    Annual fasting glucose, lipid panel, fasting insulin, LH, FSH if BMI > 25

Discuss with your doctor

  • PCOS risk and fertility planning with reproductive specialist Moderate

    ERBB4 role in oocyte development, ovarian folliculogenesis, and ovulation means variant carriers have elevated reproductive dysfunction and infertility risk

    Discuss PCOS screening, management strategies, and fertility planning with gynecologist or reproductive endocrinologist

Lifestyle

  • Weight optimization if overweight or obese Moderate

    PCOS genetic association is specific to overweight/obese phenotype (BMI > 25); weight management improves insulin sensitivity and reduces metabolic dysfunction

    Target BMI < 25 kg/m2 or achieve 5-10% weight loss if current BMI exceeds 25

Screening

  • Annual PCOS symptom screening Moderate

    ERBB4 variants impair ovarian folliculogenesis and gonadotropin signaling, elevating oligoamenorrhea, anovulation, and hyperandrogenic feature risk

    Annual assessment of menstrual regularity and hyperandrogenic signs (hirsutism, acne, male-pattern baldness)