Expressive

rs10097994 - 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

  • Genetic inguinal hernia risk and prevention strategies Moderate

    rs10097994-C variant substantially increases hernia susceptibility; early discussion supports preventive planning

    Review genetic risk assessment, screening recommendations, and modifiable risk factors

Lifestyle

  • Heavy lifting and straining Moderate

    Increased intra-abdominal pressure exacerbates mechanical weakness in genetically susceptible individuals

    Use proper lifting techniques; limit heavy exertion; prevent chronic constipation and cough

  • Weight management and cardiovascular fitness Moderate

    Obesity increases intra-abdominal pressure and hernia risk in genetically predisposed individuals

    Maintain healthy BMI (18.5-24.9); incorporate regular aerobic and strength training

Screening

  • Inguinal hernia screening Moderate

    rs10097994-C variant increases inguinal hernia risk (OR 1.08 per allele); baseline assessment enables early detection

    Discuss screening protocol and surveillance frequency with healthcare provider