Expressive

rs11125604 - PNPT1 - EFEMP1

Magnitude 2.8 · 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

  • heavy lifting and straining Moderate

    EFEMP1-mediated extracellular matrix dysfunction reduces abdominal wall tensile strength; activities increasing intra-abdominal pressure amplify hernia risk.

    use proper body mechanics during lifting; manage constipation to minimize straining; avoid heavy occupational exposures

Screening

  • inguinal hernia clinical screening High

    rs11125604 is strongly associated with inguinal hernia risk through EFEMP1-mediated effects on extracellular matrix organization in the abdominal wall.

    discuss clinical palpation screening with physician; consider ultrasound if symptomatic