Expressive

rs112111936 - PAFAH1B2

Magnitude 2.2 · 1 study on file

Reported associations

  • Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia. - Atherosclerosis (2022) · Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR · PubMed 34906840

    Familial combined hyperlipidemia (FCHL) is one of the most common inherited lipid phenotypes, characterized by elevated plasma concentrations of apolipoprotein B-100 and triglycerides. The genetic inheritance of FCHL remains poorly understood. The goals of this study were to investigate the polygenetic architecture and cardiovascular risk associated with FCHL. We identified individuals with an FCHL phenotype among 349,222 unrelated participants of European ancestry in the UK Biobank using modified versions of 5 different diagnostic criteria. The prevalence of the FCHL phenotype was 11.44% (n = 39,961), 5.01% (n = 17,485), 1.48% (n = 5,153), 1.10% (n = 3,838), and 0.48% (n = 1,688) according to modified versions of the Consensus Conference, Dutch, Mexico, Brunzell, and Goldstein c

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Lifestyle context

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

Diet

  • Increase soluble fiber and plant-based unsaturated fats Moderate

    PAFAH1B2 variant affects APOA1 and lipid metabolism; dietary modification is first-line FCH therapy

    Aim for 10-25g soluble fiber daily; emphasize unsaturated fats over saturated

Discuss with your doctor

  • Familial combined hyperlipidemia genetic risk assessment Moderate

    GWAS identifies PAFAH1B2 as a major genetic contributor to FCH (p=4e-18, n=349K)

    Discuss finding with healthcare provider; request lipid specialist evaluation if indicated

Screening

  • Baseline and periodic lipid panel assessment Moderate

    PAFAH1B2 rs112111936 T allele associated with familial combined hyperlipidemia with high statistical confidence

    Lipid panel (total, LDL, HDL, triglycerides) at baseline; repeat every 1-2 years minimum