Expressive

rs1122849 - 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.

Lifestyle

  • chronic constipation Moderate

    Chronic straining and constipation increase intra-abdominal pressure and hernia risk

    Increase fiber to 25-30g daily and maintain adequate hydration

  • healthy body weight Moderate

    Excess abdominal weight increases intra-abdominal pressure and hernia risk

    Maintain BMI 18-25 through balanced diet and regular exercise

  • heavy lifting and straining Moderate

    Increased abdominal pressure from mechanical stress is a primary hernia risk factor

    Avoid lifting objects >25 lbs without assistance; use proper lifting technique

Screening

  • inguinal hernia risk and prevention with physician Moderate

    Genetic variant increases inguinal hernia risk through effects on connective tissue via CDCA2

    Schedule discussion with primary care physician about risk and prevention strategies