ArticleGenome medicine2022
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.
Article in Genome medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Exome-Wide Analysis Identifies a RareKidney international reports · 2026Article
- Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.Investigative ophthalmology & visual science · 2025Article
- Cumulative exposures to glycaemia and lipids are associated with coronary artery disease in type 1 diabetes: a call for action.Cardiovascular diabetology · 2025Article
- Exploring Disparities in Atherosclerosis Comorbidity with Aortic Aneurysm.Biomedicines · 2025Review
- Genetic Architecture and Clinical Outcomes of Combined Lipid Disturbances.Circulation research · 2024Article
- Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.Scientific reports · 2024Article
- Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.Genome medicine · 2022Article
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Authors and funding
15 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentrations provide added awareness of the burden of circulating lipoproteins. While common genetic variants modestly affect the serum lipid concentrations, rare genetic mutations can cause monogenic forms of hypercholesterolemia and other genetic disorders of lipid metabolism. We aimed to identify low-frequency protein-altering variants (PAVs) affecting lipoprotein and lipid traits.
methodsWe analyzed whole-exome (WES) and whole-genome sequencing (WGS) data of 481 and 474 individuals with type 1 diabetes, respectively. The phenotypic data consisted of 79 serum lipid and apolipoprotein phenotypes obtained with clinical laboratory measurements and nuclear magnetic resonance spectroscopy.
resultsThe single-variant analysis identified an association between the LIPC p.Thr405Met (rs113298164) and serum apolipoprotein A1 concentrations (p=7.8×10
conclusionsWe identified lipid and apolipoprotein-associated variants in the previously known LIPC and APOB genes, as well as PAVs in GTF3C5 associated with LDLC, and in RBM47 associated with apolipoprotein C-III concentrations, implicated as an independent CVD risk factor. Identification of rare loss-of-function variants has previously revealed genes that can be targeted to prevent CVD, such as the LDL cholesterol-lowering loss-of-function variants in the PCSK9 gene. Thus, this study suggests novel putative therapeutic targets for the prevention of CVD.
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