Expressive

rs1233620 - RPSAP2 - NOP56P1

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 individualized prevention Moderate

    G allele confers 11% increased risk per allele for inguinal hernia (GWAS p=4e-9, n=275k). Baseline assessment and personalized prevention strategies are clinically indicated.

Exercise

  • heavy lifting and repetitive straining Moderate

    G allele increases inguinal hernia risk via effects on abdominal wall connective tissue. Heavy lifting and straining increase mechanical stress on herniation-prone areas.

    Avoid lifting more than 25 lbs without proper form; use assistive devices when possible

Lifestyle

  • body weight and constipation Moderate

    Elevated intra-abdominal pressure from obesity and straining increases mechanical stress on the genetically weakened abdominal wall.

    Maintain healthy weight; ensure adequate fiber and hydration to prevent straining with bowel movements