dc.contributor.author | Timpson, Nicholas J. | en_US |
dc.contributor.author | Walter, Klaudia | en_US |
dc.contributor.author | Min, Josine L. | en_US |
dc.contributor.author | Tachmazidou, Ioanna | en_US |
dc.contributor.author | Malerba, Giovanni | en_US |
dc.contributor.author | Shin, So-Youn | en_US |
dc.contributor.author | Chen, Lu | en_US |
dc.contributor.author | Futema, Marta | en_US |
dc.contributor.author | Southam, Lorraine | en_US |
dc.contributor.author | Iotchkova, Valentina | en_US |
dc.contributor.author | Cocca, Massimiliano | en_US |
dc.contributor.author | Huang, Jie | en_US |
dc.contributor.author | Memari, Yasin | en_US |
dc.contributor.author | McCarthy, Shane | en_US |
dc.contributor.author | Danecek, Petr | en_US |
dc.contributor.author | Muddyman, Dawn | en_US |
dc.contributor.author | Mangino, Massimo | en_US |
dc.contributor.author | Menni, Cristina | en_US |
dc.contributor.author | Perry, John R. B. | en_US |
dc.contributor.author | Ring, Susan M. | en_US |
dc.contributor.author | Gaye, Amadou | en_US |
dc.contributor.author | Dedoussis, George | en_US |
dc.contributor.author | Farmaki, Aliki-Eleni | en_US |
dc.contributor.author | Burton, Paul | en_US |
dc.contributor.author | Talmud, Philippa J. | en_US |
dc.contributor.author | Gambaro, Giovanni | en_US |
dc.contributor.author | Spector, Tim D. | en_US |
dc.contributor.author | Smith, George Davey | en_US |
dc.contributor.author | Durbin, Richard | en_US |
dc.contributor.author | Richards, J Brent | en_US |
dc.contributor.author | Humphries, Steve E. | en_US |
dc.contributor.author | Zeggini, Eleftheria | en_US |
dc.contributor.author | Soranzo, Nicole | en_US |
dc.contributor.author | Al Turki, Saeed | en_US |
dc.contributor.author | Anderson, Carl | en_US |
dc.contributor.author | Anney, Richard | en_US |
dc.contributor.author | Antony, Dinu | en_US |
dc.contributor.author | Soler Artigas, Maria | en_US |
dc.contributor.author | Ayub, Muhammad | en_US |
dc.contributor.author | Balasubramaniam, Senduran | en_US |
dc.contributor.author | Barrett, Jeffrey C. | en_US |
dc.contributor.author | Barroso, Inês | en_US |
dc.contributor.author | Beales, Phil | en_US |
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dc.contributor.author | Birney, Ewan | en_US |
dc.contributor.author | Blackwood, Douglas | en_US |
dc.contributor.author | Bobrow, Martin | en_US |
dc.contributor.author | Bochukova, Elena | en_US |
dc.contributor.author | Bolton, Patrick | en_US |
dc.contributor.author | Bounds, Rebecca | en_US |
dc.contributor.author | Boustred, Chris | en_US |
dc.contributor.author | Breen, Gerome | en_US |
dc.contributor.author | Calissano, Mattia | en_US |
dc.contributor.author | Carss, Keren | en_US |
dc.contributor.author | Chatterjee, Krishna | en_US |
dc.contributor.author | Ciampi, Antonio | en_US |
dc.contributor.author | Cirak, Sebhattin | en_US |
dc.contributor.author | Clapham, Peter | en_US |
dc.contributor.author | Clement, Gail | en_US |
dc.contributor.author | Coates, Guy | en_US |
dc.contributor.author | Collier, David | en_US |
dc.contributor.author | Cosgrove, Catherine | en_US |
dc.contributor.author | Cox, Tony | en_US |
dc.contributor.author | Craddock, Nick | en_US |
dc.contributor.author | Crooks, Lucy | en_US |
dc.contributor.author | Curran, Sarah | en_US |
dc.contributor.author | Curtis, David | en_US |
dc.contributor.author | Daly, Allan | en_US |
dc.contributor.author | Davey Smith, George | en_US |
dc.contributor.author | Day-Williams, Aaron | en_US |
dc.contributor.author | Day, Ian N. M. | en_US |
dc.contributor.author | Down, Thomas | en_US |
dc.contributor.author | Du, Yuanping | en_US |
dc.contributor.author | Dunham, Ian | en_US |
dc.contributor.author | Edkins, Sarah | en_US |
dc.contributor.author | Ellis, Peter | en_US |
dc.contributor.author | Evans, David | en_US |
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dc.contributor.author | Fitzpatrick, David R. | en_US |
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dc.contributor.author | Gallagher, Louise | en_US |
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dc.contributor.author | Timpson, Nicholas | en_US |
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dc.contributor.author | Wang, Jun | en_US |
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dc.contributor.author | Williams, Hywel | en_US |
dc.contributor.author | Williamson, Kathleen A. | en_US |
dc.contributor.author | Wilson, Crispian | en_US |
dc.contributor.author | Wilson, Scott G. | en_US |
dc.contributor.author | Wong, Kim | en_US |
dc.contributor.author | Xu, ChangJiang | en_US |
dc.contributor.author | Yang, Jian | en_US |
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dc.contributor.author | Zhang, Pingbo | en_US |
dc.contributor.author | Zheng, Hou-Feng | en_US |
dc.date.accessioned | 2014-11-03T17:40:32Z | |
dc.date.issued | 2014 | en_US |
dc.identifier.citation | Timpson, N. J., K. Walter, J. L. Min, I. Tachmazidou, G. Malerba, S. Shin, L. Chen, et al. 2014. “A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.” Nature Communications 5 (1): 4871. doi:10.1038/ncomms5871. http://dx.doi.org/10.1038/ncomms5871. | en |
dc.identifier.issn | 2041-1723 | en |
dc.identifier.uri | http://nrs.harvard.edu/urn-3:HUL.InstRepos:13347626 | |
dc.description.abstract | The 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. | en |
dc.language.iso | en_US | en |
dc.publisher | Nature Pub. Group | en |
dc.relation.isversionof | doi:10.1038/ncomms5871 | en |
dc.relation.hasversion | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167609/pdf/ | en |
dash.license | LAA | en_US |
dc.title | A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans | en |
dc.type | Journal Article | en_US |
dc.description.version | Version of Record | en |
dc.relation.journal | Nature Communications | en |
dash.depositing.author | Al Turki, Saeed | en_US |
dc.date.available | 2014-11-03T17:40:32Z | |
dc.identifier.doi | 10.1038/ncomms5871 | * |
dash.authorsordered | false | |
dash.contributor.affiliated | Al Turki, Saeed | |
dash.contributor.affiliated | MacArthur, Daniel | |
dash.contributor.affiliated | Lek, Monkol | |
dash.contributor.affiliated | Mathieson, Iain | |