rs11783373 - EBF2

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.

Lifestyle

  • Heavy repetitive lifting or straining Moderate

    Increased intra-abdominal pressure from heavy lifting or straining increases hernia risk in genetically susceptible individuals.

    Avoid regular heavy lifting (>25 lbs); use proper lifting technique; manage chronic cough to minimize straining

  • Maintain healthy weight Moderate

    Obesity increases abdominal pressure; weight management reduces modifiable risk factors in genetically susceptible individuals.

    Target BMI 18.5-25 kg/m2; gradual weight loss if overweight

Screening

  • Clinical evaluation for inguinal hernia Moderate

    Genetic variant rs11783373 in EBF2 associates with 1.07-fold increased inguinal hernia risk; early clinical identification may enable preventive management.

    Clinical examination at baseline and if groin pain, bulging, or discomfort develops