Expressive

rs1238262 - 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 predisposition to inguinal hernia High

    rs1238262 C allele carriers show 1.11-fold increased inguinal hernia risk (GWAS n=275546, p=2e-9), warranting clinical discussion and preventive strategy.

    Discuss at routine visit; consider referral if symptomatic

Lifestyle

  • body weight and prevent weight gain Moderate

    Obesity increases intra-abdominal pressure and hernia risk; weight management is key for genetically predisposed individuals.

    Target BMI 18.5-24.9; avoid weight gain; annual weight monitoring

  • heavy lifting and abdominal straining Moderate

    Increased intra-abdominal pressure from heavy exertion increases hernia risk; particularly important for genetically predisposed individuals.

    Use proper lifting technique; avoid heavy repetitive lifting; minimize straining

Screening

  • clinical screening for inguinal hernia High

    Genetic predisposition to inguinal hernia warrants proactive clinical screening for early detection and preventive management.

    Include in routine physicals; perform annual palpation examination of groin