Expressive

rs112299992 - ABCA6

Magnitude 2.2 · 2 studies on file

Reported associations

  • Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 37669986

    ABSTRACT: Most genome-wide association studies (GWAS) for lipid traits focus on the separate analysis of lipid traits. Moreover, there are limited GWASs evaluating the genetic variants associated with multiple lipid traits in African ancestry. To further identify and localize loci with pleiotropic effects on lipid traits, we conducted a genome-wide meta-analysis, multi-trait analysis of GWAS (MTAG), and multi-trait fine-mapping (flashfm) in 125,000 individuals of African ancestry. Our meta-analysis and MTAG identified four and 14 novel loci associated with lipid traits, respectively. flashfm yielded an 18% mean reduction in the 99% credible set size compared to single-trait fine-mapping with JAM. Moreover, we identified more genetic variants with a posterior probability of causality >0.9 w

  • The power of genetic diversity in genome-wide association studies of lipids - Unknown journal (n.d.) · Unknown authors · PubMed 34887591

    ABSTRACT: Elevated blood lipid levels are heritable risk factors of cardiovascular disease with varying prevalence worldwide due to differing dietary patterns and medication use. Despite advances in prevention and treatment, particularly through the lowering of low-density lipoprotein cholesterol levels, heart disease remains the leading cause of death worldwide. Genome-wide association studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS have been conducted in European ancestry populations and may have missed genetic variants contributing to lipid level variation in other ancestry groups due to differences in allele frequencies, effect sizes, and linkage-disequilibr

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Lifestyle context

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

Bloodwork

  • Lipid panel including total cholesterol High

    ABCA6 rs112299992 A allele associated with elevated total cholesterol across large cohorts

    Annual lipid panel; baseline measurement recommended

Diet

  • Saturated fat reduction Moderate

    Dietary modification may moderate cholesterol elevation conferred by ABCA6 variant

    Target saturated fat <7% of daily calories; prioritize unsaturated fats

Discuss with your doctor

  • Genetic predisposition to elevated cholesterol and management strategy Moderate

    ABCA6 variant confers increased total cholesterol; personalized approach warranted based on baseline levels

    Discuss baseline cholesterol, lipid subfractions, family history, lifestyle vs pharmacotherapy options