The influence of rare variants in circulating metabolic biomarkers

Fernando Riveros-Mckay, Clare Oliver-Williams, Savita Karthikeyan, Klaudia Walter, Kousik Kundu, Willem H Ouwehand, David Roberts, Emanuele Di Angelantonio, Nicole Soranzo, John Danesh, Study Interval, Eleanor Wheeler, Eleftheria Zeggini, Adam S Butterworth and Inês Barroso

PLOS Genetics, 2020, vol. 16, issue 3, 1-19

Abstract: Circulating metabolite levels are biomarkers for cardiovascular disease (CVD). Here we studied, association of rare variants and 226 serum lipoproteins, lipids and amino acids in 7,142 (discovery plus follow-up) healthy participants. We leveraged the information from multiple metabolite measurements on the same participants to improve discovery in rare variant association analyses for gene-based and gene-set tests by incorporating correlated metabolites as covariates in the validation stage. Gene-based analysis corrected for the effective number of tests performed, confirmed established associations at APOB, APOC3, PAH, HAL and PCSK (p

Date: 2020
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pgen00:1008605

DOI: 10.1371/journal.pgen.1008605

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