ArticleJournal of human genetics2024
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk.
Article in Journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Genome sequencing identifies monogenic causes in adults with metabolic diseases.Journal of the Endocrine Society · 2026Article
- Investigation of the Effects of NoncodingHuman heredity · 2026Article
- Health effects of loss of function variants in gene targets for Alzheimer's disease prevention.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants.Journal of human genetics · 2025Article
- Analysis of 470,000 exome-sequenced cases and controls fails to identify any genes impacting risk of developing affective disorder.Acta neuropsychiatrica · 2025Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.Human heredity · 2025Article
- Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.European journal of human genetics : EJHG · 2024Article
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR, PCSK9, APOC3 and IFITM5, at exome-wide significance. In addition, a further 43 protein-coding genes were significant with an uncorrected p value of <0.001. Exome sequence data has become available for a further 270,000 participants and weighted burden analysis to test for association with hyperlipidaemia was carried out in this sample for the 47 genes highlighted by the previous study. There was no evidence to implicate IFITM5 but LDLR, PCSK9, APOC3, ANGPTL3, ABCG5 and NPC1L1 were all statistically significant after correction for multiple testing. These six genes were also all exome-wide significant in the combined sample of 470,000 participants. Variants impairing function of LDLR and ABCG5 were associated with increased risk whereas variants in the other genes were protective. Variant categories associated with large effect sizes are cumulatively very rare and the main benefit of this kind of study seems to be to throw light on the molecular mechanisms impacting hyperlipidaemia risk, hopefully supporting attempts to develop improved therapies.
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