Expressive

rs11888023 - PNPT1 - EFEMP1

Magnitude 2.2 · 2 studies 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

  • Dissection of genetic variation and evidence for pleiotropy in male pattern baldness - Unknown journal (n.d.) · Unknown authors · PubMed 30573740

    ABSTRACT: Male pattern baldness (MPB) is a sex-limited, age-related, complex trait. We study MPB genetics in 205,327 European males from the UK Biobank. Here we show that MPB is strongly heritable and polygenic, with pedigree-heritability of 0.62 (SE = 0.03) estimated from close relatives, and SNP-heritability of 0.39 (SE = 0.01) from conventionally-unrelated males. We detect 624 near-independent genome-wide loci, contributing SNP-heritability of 0.25 (SE = 0.01), of which 26 X-chromosome loci explain 11.6%. Autosomal genetic variance is enriched for common variants and regions of lower linkage disequilibrium. We identify plausible genetic correlations between MPB and multiple sex-limited markers of earlier puberty, increased bone mineral density (rg = 0.15) and pancreati

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Hernia screening and prevention strategy Moderate

    Genetic variant increases inguinal hernia risk 1.15-fold; individualized prevention approach recommended

    Discuss genetic risk and personalized prevention with primary care physician

Exercise

  • Core stabilization exercises Low

    Strong abdominal and back muscles provide structural support to reduce hernia protrusion

    Perform controlled core exercises (planks, bridges, dead bugs) 3-4 times weekly

  • Heavy lifting and abdominal straining Moderate

    Heavy lifting increases abdominal pressure; genetic predisposition elevates hernia risk during Valsalva maneuver

    Use proper body mechanics when lifting; avoid heavy resistance training that strains abdominal wall

Lifestyle

  • Maintain healthy body weight Moderate

    Excess abdominal weight increases intra-abdominal pressure, compounding hernia genetic risk

    Target BMI 18-25 through balanced diet and regular physical activity