rs12208078 - HNRNPA1P1 - CD83P1

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

  • Genome-wide meta-analyses of cross substance use disorders in diverse populations - Unknown journal (n.d.) · Unknown authors · PubMed 41057643

    ABSTRACT: Substance use disorders (SUDs, including alcohol, cannabis, opioids, and tobacco) represent significant public health challenges. The estimated heritability of SUDs is ~50% and many individuals experience multiple SUDs concurrently. Studies have demonstrated the existence of genes shared across multiple SUDs, and identifying these SUD-shared genes is critical to developing novel prevention and treatment strategies. Here, we conducted the largest cross SUD meta-analysis to date to identify SUD-shared genes using samples genetically similar to 1000 Genomes Project European (1kg-EUR-like), African (1kg-AFR-like), and American mixed (1kg-AMR-like) populations. We defined variants that had the same direction of effects across different SUDs (i.e., concordant variants) as SUD-shared. I


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Lifestyle context

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

Discuss with your doctor

  • Discuss genetic predisposition to substance use disorder High

    rs12208078 strongly associates with substance use disorder (p=7e-10, OR=6.167) likely through effects on reward processing in nucleus accumbens and basal ganglia

    Discuss genetic risk and prevention strategies with healthcare provider

Lifestyle

  • Substance use prevention counseling or support programs High

    Strong genetic association indicates heightened vulnerability to addiction via dopamine-reward pathway effects in brain reward regions

    Consider family-based or cognitive-behavioral prevention programs if available

  • Heavy lifting and sustained straining Moderate

    Mechanical stress on abdominal wall combined with genetic predisposition increases hernia risk

    Use proper lifting technique, avoid excessive straining, seek assistance for heavy tasks

Screening

  • Screen for inguinal hernia symptoms Moderate

    rs12208078 A allele increases inguinal hernia risk (p=3e-8, OR=1.07) independent of other factors

    Annual self-examination for bulges and abdominal discomfort, discuss with physician at age 40+