Expressive

rs121918390 - APOB

Magnitude 4.5 · 1 study on file

Reported associations

  • Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses - Unknown journal (n.d.) · Unknown authors · PubMed 34226706

    ABSTRACT: Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the remainder of the cohort (total N~500K) to impute exome-wide variants with accuracy R2>0.5 down to minor allele frequency (MAF) ~0.00005. Association and fine-mapping analyses of 54 quantitative traits identified 1,189 significant associations (P<5 x 10−8) involving 675 distinct rare protein-altering variants (MAF<0.01) that passed stringent filters for likely causality. Across all traits, 49% of associations (578/1,189) occurred in genes with two or more hits; follow-up analyses of these genes identified allelic series containing up

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Bloodwork

  • Apolipoprotein B and comprehensive lipid panel High

    APOB rs121918390 significantly elevates ApoB and triglycerides; regular monitoring enables early detection of dyslipidemia

    Annual lipid panel including ApoB, LDL, HDL, triglycerides; more frequent if results abnormal

    • GWAS_CATALOG:34226706

Diet

  • High saturated fat and dietary cholesterol High

    APOB variants impair LDL receptor-mediated clearance; dietary cholesterol reduction mitigates lipid elevation

    Limit saturated fat to <7 percent of daily calories; reduce dietary cholesterol; favor plant-based oils

    • GWAS_CATALOG:34226706
    • ClinVar:17895

Discuss with your doctor

  • Genetic confirmation and FH management plan High

    Pathogenic APOB rs121918390 causes familial hypercholesterolemia; clinical confirmation and management strategy are essential

    Confirm genetic diagnosis; review current lipid levels; discuss statin/ezetimibe therapy eligibility

    • ClinVar:17895

Exercise

  • Regular aerobic exercise for cardiovascular health Moderate

    Pathogenic APOB variants elevate cardiovascular risk; exercise reduces ApoB and triglycerides and supports overall heart health

    150 minutes per week moderate-intensity aerobic activity; resistance training 2 days per week

    • GWAS_CATALOG:34226706
    • ClinVar:17895