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dc.contributor.authorTimpson, NJ
dc.contributor.authorWalter, K
dc.contributor.authorMin, JL
dc.contributor.authorTachmazidou, I
dc.contributor.authorMalerba, G
dc.contributor.authorShin, S-Y
dc.contributor.authorChen, L
dc.contributor.authorFutema, M
dc.contributor.authorSoutham, L
dc.contributor.authorIotchkova, V
dc.contributor.authorCocca, M
dc.contributor.authorHuang, J
dc.contributor.authorMemari, Y
dc.contributor.authorMcCarthy, S
dc.contributor.authorDanecek, P
dc.contributor.authorMuddyman, D
dc.contributor.authorMangino, M
dc.contributor.authorMenni, C
dc.contributor.authorPerry, JRB
dc.contributor.authorRing, SM
dc.contributor.authorGaye, A
dc.contributor.authorDedoussis, G
dc.contributor.authorFarmaki, A-E
dc.contributor.authorBurton, P
dc.contributor.authorTalmud, PJ
dc.contributor.authorGambaro, G
dc.contributor.authorSpector, TD
dc.contributor.authorSmith, GD
dc.contributor.authorDurbin, R
dc.contributor.authorRichards, JB
dc.contributor.authorHumphries, SE
dc.contributor.authorZeggini, E
dc.contributor.authorSoranzo, N
dc.contributor.authorUK1OK Consortium Members,
dc.contributor.authorUK1OK Consortium Members,
dc.date.accessioned2020-12-21T02:29:26Z
dc.date.available2020-12-21T02:29:26Z
dc.date.issued2014-09-16
dc.identifierpii: ncomms5871
dc.identifier.citationTimpson, N. J., Walter, K., Min, J. L., Tachmazidou, I., Malerba, G., Shin, S. -Y., Chen, L., Futema, M., Southam, L., Iotchkova, V., Cocca, M., Huang, J., Memari, Y., McCarthy, S., Danecek, P., Muddyman, D., Mangino, M., Menni, C., Perry, J. R. B. ,... UK1OK Consortium Members, (2014). A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.. Nat Commun, 5 (1), pp.4871-. https://doi.org/10.1038/ncomms5871.
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11343/256948
dc.description.abstractThe analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (-1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10(-8))) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Northern and Southern European origin (-1.0 s.d. (s.e.=0.173), P-value=7.32 × 10(-9)). This is consistent with an effect between 0.5 and 1.5 mmol l(-1) dependent on population. We show that a single predicted splice donor variant is responsible for association signals and is independent of known common variants. Analyses suggest an independent relationship between rs138326449 and high-density lipoprotein (HDL) levels. This represents one of the first examples of a rare, large effect variant identified from whole-genome sequencing at a population scale.
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
dc.typeJournal Article
dc.identifier.doi10.1038/ncomms5871
melbourne.affiliation.departmentMelbourne Law School
melbourne.source.titleNature Communications
melbourne.source.volume5
melbourne.source.issue1
melbourne.source.pages4871-
dc.rights.licenseCC BY
melbourne.elementsid1235886
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167609
melbourne.contributor.authorKaye, Jane
dc.identifier.eissn2041-1723
melbourne.accessrightsOpen Access


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