Expressive

rs113481311 - EFEMP1 - RN7SKP208

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.

Lifestyle

  • body weight and abdominal girth Moderate

    Excess abdominal mass increases intra-abdominal pressure, compounding EFEMP1-mediated hernia predisposition

    Target BMI 18.5-24.9; maintain waist circumference <40 inches (men) or <35 inches (women)

  • heavy lifting and abdominal straining Moderate

    EFEMP1 rs113481311 risk allele increases structural hernia susceptibility; excessive abdominal pressure is a primary triggering mechanism

    Avoid lifting >25 lbs; use proper form for necessary lifting; avoid bearing down

  • tobacco smoking Moderate

    Chronic smoking-related cough creates repetitive abdominal pressure spikes, a known hernia trigger in predisposed individuals

Screening

  • hernia awareness and physician evaluation if symptomatic Moderate

    EFEMP1 rs113481311 confers 1.4x increased hernia risk (p=2.00e-14, n=275546); early detection enables conservative management

    Report new abdominal bulge, pain, or pressure; imaging as clinically indicated