Expressive

rs12327715 - CBLC

Magnitude 2.2 · 2 studies 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

  • GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - Unknown journal (n.d.) · Unknown authors · PubMed 40545721

    ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

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Lifestyle context

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

Diet

  • dietary fat modification for lipid management Moderate

    Familial combined hyperlipidemia management typically involves reducing saturated fat and optimizing polyunsaturated fat intake; rs12327715 also associates with linoleic acid metabolism

    Reduce saturated fat to <7% of calories, increase soluble fiber intake

Discuss with your doctor

  • cardiovascular risk assessment and management strategy Moderate

    rs12327715 strongly associates with familial combined hyperlipidemia; clinician assessment needed for personalized management including potential pharmacotherapy

Exercise

  • regular aerobic exercise Moderate

    Aerobic exercise improves lipid profiles and reduces cardiovascular risk, particularly beneficial in familial combined hyperlipidemia

    150 minutes of moderate-intensity aerobic activity per week

Screening

  • lipid panel including triglycerides and LDL Moderate

    rs12327715 risk allele G is strongly associated with familial combined hyperlipidemia, characterized by elevated triglycerides and/or LDL cholesterol

    Annual or biennial lipid panel