Expressive

rs10746560 - EBF2

Magnitude 2.2 · 1 study on file

Reported associations

  • Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank. - Hernia : the journal of hernias and abdominal wall surgery (2022) · Wei J, Attaar M, Shi Z, Na R, Resurreccion WK, Haggerty SP, Zheng SL, Helfand BT, Ujiki MB, Xu J · PubMed 34382107

    Familial aggregation is known for both hernia development and recurrence. To date, only one genome-wide association study (GWAS) limited to inguinal hernia has been reported that identified four risk-associated loci. We aim to investigate polygenic architecture of abdominal wall hernia development and recurrence. A GWAS was performed in 367,394 subjects from the UK Biobank to investigate the polygenic architecture of abdominal wall hernia subtypes (inguinal, femoral, umbilical, ventral) and identify specific single nucleotide polymorphisms (SNPs) that are associated with their risk. Expression quantitative trait loci (eQTL) analysis was performed to identify genes whose expression levels are associated with these SNPs. A genetic risk score (GRS) was used to assess the cumulative effect of

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Lifestyle context

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

Discuss with your doctor

  • personalized hernia prevention and management strategy Moderate

    rs10746560 carriers have substantially elevated hernia risk; clinical discussion optimizes individual prevention and management

    Discuss hernia risk, family history, lifestyle modification, and surgical options if appropriate at regular checkup

Lifestyle

  • body weight and abdominal obesity Moderate

    Obesity increases intra-abdominal pressure; combined with EBF2-related connective tissue weakness, this substantially elevates hernia risk

    Target BMI 18.5-25; discuss weight management strategies with healthcare provider

  • heavy lifting and intense abdominal straining Moderate

    EBF2 regulates connective tissue integrity; rs10746560 impairs tissue strength, elevating hernia risk when intra-abdominal pressure increases

    Avoid lifting more than 20-30 pounds; use proper lifting form; avoid straining with bowel movements

Screening

  • inguinal hernia symptoms Moderate

    Genetic predisposition substantially increases lifetime hernia risk; early detection enables timely management

    Report any groin bulging, pain, or heaviness to healthcare provider; discuss routine self-examination