Expressive

rs11691401 - PNPT1 - EFEMP1

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

  • inguinal hernia risk assessment and screening High

    Genetic variants near EFEMP1 significantly increase inguinal hernia risk; clinical evaluation determines individualized preventive strategy

Lifestyle

  • body weight Moderate

    Obesity increases intra-abdominal pressure and weakens abdominal wall integrity, accelerating hernia development in genetic carriers

    Maintain BMI less than 25; monitor weight regularly

  • heavy lifting and straining Moderate

    Increased abdominal pressure and mechanical stress precipitate inguinal hernia in genetically predisposed individuals with reduced fascial integrity

    Avoid lifting over 20 lbs; use proper technique; manage constipation

Screening

  • for inguinal hernia symptoms Moderate

    Early detection of bulge, discomfort, or pain in the groin allows timely clinical evaluation and treatment before complications

    Monitor for asymmetric bulge in groin, especially during exertion; report symptoms to provider