Expressive

rs11685113 - 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.

Discuss with your doctor

  • genetic hernia risk and preventive strategies Moderate

    Genetic predisposition to inguinal hernia (OR 1.11, p=5e-20) warrants discussion of screening frequency and preventive intervention.

    discuss hernia screening protocol and risk reduction with healthcare provider

Lifestyle

  • repetitive heavy lifting and abdominal straining Moderate

    Increased intra-abdominal pressure from heavy lifting compounds genetic predisposition to hernia; mechanical prevention reduces clinical risk.

    avoid single loads >50 lbs; minimize repetitive heavy lifting; use proper body mechanics

Screening

  • inguinal hernia clinical assessment Moderate

    EFEMP1 risk allele associates with 1.11-fold increased inguinal hernia risk; baseline screening identifies hernia development early.

    clinical palpation at baseline; discuss screening interval with provider