Expressive

rs1233583 - 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

  • hernia prevention strategies Moderate

    Genetic risk stratification allows targeted preventive counseling and monitoring

    Discuss with doctor: preventive measures, when to seek care, genetic risk implications

Exercise

  • heavy lifting without core support Moderate

    Mechanical stress on abdominal wall triggers hernia formation in genetically susceptible individuals

    Use proper lifting technique; avoid heavy loads; wear abdominal support when needed

Screening

  • inguinal hernia screening Moderate

    Genetic variant increases hernia susceptibility by 11% per allele, warranting increased clinical surveillance

    Annual clinical examination; seek evaluation if groin pain or bulge occurs