Show simple item record

dc.contributor.authorZekavat, S.M.
dc.contributor.authorRuotsalainen, S.
dc.contributor.authorHandsaker, R.E.
dc.date.accessioned2019-06-21T18:46:35Z
dc.date.available2019-06-21T18:46:35Z
dc.date.issued2018
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85049751193&doi=10.1038%2fs41467-018-04668-w&partnerID=40&md5=b27b75fbe701b4c1c152a3b6ff6d4b21
dc.identifier.urihttp://hdl.handle.net/10713/9806
dc.descriptionAn amendment to this paper has been published and can be accessed at https://doi.org/10.1038/s41467-020-15236-6
dc.description.abstractLipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use deep-coverage whole genome sequencing in 8392 individuals of European and African ancestry to discover and interpret both single-nucleotide variants and copy number (CN) variation associated with Lp(a). We observe that genetic determinants between Europeans and Africans have several unique determinants. The common variant rs12740374 associated with Lp(a) cholesterol is an eQTL for SORT1 and independent of LDL cholesterol. Observed associations of aggregates of rare non-coding variants are largely explained by LPA structural variation, namely the LPA kringle IV 2 (KIV2)-CN. Finally, we find that LPA risk genotypes confer greater relative risk for incident atherosclerotic cardiovascular diseases compared to directly measured Lp(a), and are significantly associated with measures of subclinical atherosclerosis in African Americans. Copyright 2018 The Author(s).en_US
dc.description.urihttps://dx.doi.org/10.1038/s41467-018-04668-wen_US
dc.description.urihttps://doi.org/10.1038/s41467-020-15236-6
dc.language.isoen-USen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofNature Communications
dc.subjectLipoprotein(a)en_US
dc.subjectLipoproteinsen_US
dc.subjectLp(a) levelen_US
dc.titleDeep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestriesen_US
dc.typeArticleen_US
dc.identifier.doi10.1038/s41467-018-04668-w
dc.identifier.pmid29973585


This item appears in the following Collection(s)

Show simple item record