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Analysis with the exome array identifies multiple new independent variants in lipid loci
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2016 (English)In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 25, no 18, 4094-4106 p.Article in journal (Refereed) Published
Abstract [en]

It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27 312 individuals with a comprehensive set of low frequency coding variants (ExomeChip), combined with conditional analysis in the known lipid loci. No new locus reached genome-wide significance. However, we found a new lead variant in 26 known lipid association regions of which 16 were >1000-fold more significant than the previous sentinel variant and not in close LD (six had MAF <5%). Furthermore, conditional analysis revealed multiple independent signals (ranging from 1 to 5) in a third of the 98 lipid loci tested, including rare variants. Addition of our novel associations resulted in between 1.5- and 2.5-fold increase in the proportion of heritability explained for the different lipid traits. Our findings suggest that rare coding variants contribute to the genetic architecture of lipid traits.

Place, publisher, year, edition, pages
2016. Vol. 25, no 18, 4094-4106 p.
National Category
Cell and Molecular Biology
Identifiers
URN: urn:nbn:se:umu:diva-129174DOI: 10.1093/hmg/ddw227ISI: 000395806000016PubMedID: 27466198OAI: oai:DiVA.org:umu-129174DiVA: diva2:1058473
Available from: 2016-12-21 Created: 2016-12-21 Last updated: 2017-04-11Bibliographically approved

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Jansson, Jan-HåkanRenström, FridaRolandsson, Olov
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Department of Public Health and Clinical MedicineDepartment of Biobank ResearchFamily Medicine
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