rs11135902 - EBF2
Magnitude 2.2 · 1 study on file
Reported associations
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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
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heavy lifting and abdominal straining Moderate
genetic hernia risk is exacerbated by mechanical stress that increases intra-abdominal pressure
use proper lifting mechanics, ask for assistance with heavy objects
Screening
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inguinal hernia screening and monitoring options Moderate
rs11135902 risk allele T increases inguinal hernia risk 1.09-fold, personalized screening may improve early detection
discuss with physician whether periodic clinical assessment or self-monitoring is appropriate