Expressive

rs11988997 - SAMD12-AS1

Magnitude 2.8 · 1 study on file

Reported associations

  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis - Unknown journal (n.d.) · Unknown authors · PubMed 23143602

    ABSTRACT: Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR, and SPINK1 variants were associated with pancreatitis risk. We now report two significant genome-wide associations identified and replicated at PRSS1-PRSS2 (1×10-12) and x-linked CLDN2 (p < 1×10-21) through a two-stage genome-wide study (Stage 1, 676 cases and 4507 controls; Stage 2, 910 cases and 4170 controls). The PRSS1 variant affects susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous (or hemizygous male) CLDN2 gen

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Lifestyle context

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

Discuss with your doctor

  • pancreatitis risk and management strategy Moderate

    rs11988997-T allele associated with 35.9% increased pancreatitis risk in well-powered GWAS

    discuss genetic predisposition and screening/prevention options with healthcare provider

Lifestyle

  • excessive alcohol consumption Moderate

    Alcohol is the primary modifiable pancreatitis risk factor; genetic predisposition increases sensitivity

    limit to less than 2 drinks per day, or abstain if possible

  • smoking Moderate

    Smoking is an independent pancreatitis risk factor that may compound genetic predisposition

    smoking cessation

Screening

  • pancreatitis warning symptoms Moderate

    Increased genetic risk warrants heightened vigilance for early symptom detection

    report sudden epigastric pain, back pain, or persistent abdominal pain immediately