Expressive

rs12115041 - CDCA2 - 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 risk reduction strategy Moderate

    Genetic risk stratification enables tailored prevention counseling and risk communication

    discuss family history, occupational risk, and personalized prevention plan with physician

Lifestyle

  • heavy lifting and strenuous exertion Moderate

    Increased intra-abdominal pressure from heavy lifting increases mechanical strain on fascial layers, raising inguinal hernia risk

    avoid repetitive heavy lifting; use proper lifting technique; limit maximum load to <25 lbs regularly

  • maintain healthy body weight Moderate

    Excess abdominal adiposity increases intra-abdominal pressure, a major mechanical risk factor for hernia formation

    target BMI 18.5-24.9 kg/m2; monitor waist circumference

Screening

  • clinical evaluation for inguinal hernia symptoms Moderate

    Genetic variant rs12115041 associated with 1.12-fold increased inguinal hernia risk; early detection enables timely intervention

    report any persistent groin pain, bulging, or discomfort to physician; discuss screening interval