Please use this identifier to cite or link to this item: http://dl.umsu.ac.ir/handle/Hannan/31240
Title: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Authors: Timpson, Nicholas J.;Walter, Klaudia;Min, Josine L.;Tachmazidou, Ioanna;Malerba, Giovanni;Shin, So-Youn;Chen, Lu;Futema, Marta;Southam, Lorraine;Iotchkova, Valentina;Cocca, Massimiliano;Huang, Jie;Memari, Yasin;McCarthy, Shane;Danecek, Petr;Muddyman, Dawn;Mangino, Massimo;Menni, Cristina;Perry, John R. B.;Ring, Susan M.;Gaye, Amadou;Dedoussis, George;Farmaki, Aliki-Eleni;Burton, Paul;Talmud, Philippa J.;Gambaro, Giovanni;Spector, Tim D.;Smith, George Davey;Durbin, Richard;Richards, J Brent;Humphries, Steve E.;Zeggini, Eleftheria;Soranzo, Nicole;Al Turki, Saeed;Anderson, Carl;Anney, Richard;Antony, Dinu;Soler Artigas, Maria;Ayub, Muhammad;Balasubramaniam, Senduran;Barrett, Jeffrey C.;Barroso, Inês;Beales, Phil;Bentham, Jamie;Bhattacharya, Shoumo;Birney, Ewan;Blackwood, Douglas;Bobrow, Martin;Bochukova, Elena;Bolton, Patrick;Bounds, Rebecca;Boustred, Chris;Breen, Gerome;Calissano, Mattia;Carss, Keren;Chatterjee, Krishna;Ciampi, Antonio;Cirak, Sebhattin;Clapham, Peter;Clement, Gail;Coates, Guy;Collier, David;Cosgrove, Catherine;Cox, Tony;Craddock, Nick;Crooks, Lucy;Curran, Sarah;Curtis, David;Daly, Allan;Davey Smith, George;Day-Williams, Aaron;Day, Ian N. M.;Down, Thomas;Du, Yuanping;Dunham, Ian;Edkins, Sarah;Ellis, Peter;Evans, David;Faroogi, Sadaf;Fatemifar, Ghazaleh;Fitzpatrick, David R.;Flicek, Paul;Flyod, James;Foley, A Reghan;Franklin, Christopher S;Gallagher, Louise;Gaunt, Tom;Geihs, Matthias;Geschwind, Daniel;Greenwood, Celia;Griffin, Heather;Grozeva, Detelina;Guo, Xueqin;Guo, Xiaosen;Gurling, Hugh;Hart, Deborah;Hendricks, Audrey;Holmans, Peter;Howie, Bryan;Huang, Liren;Hubbard, Tim;Hurles, Matthew E.;Hysi, Pirro;Jackson, David K.;Jamshidi, Yalda;Jing, Tian;Joyce, Chris;Kaye, Jane;Keane, Thomas;Keogh, Julia;Kemp, John;Kennedy, Karen;Kolb-Kokocinski, Anja;Lachance, Genevieve;Langford, Cordelia;Lawson, Daniel;Lee, Irene;Lek, Monkol;Liang, Jieqin;Lin, Hong;Li, Rui;Li, Yingrui;Liu, Ryan;Lönnqvist, Jouko;Lopes, Margarida;Lotchkova, Valentina;MacArthur, Daniel;Marchini, Jonathan;Maslen, John;Massimo, Mangino;Mathieson, Iain;Marenne, Gaëlle;McGuffin, Peter;McIntosh, Andrew;McKechanie, Andrew G.;McQuillin, Andrew;Metrustry, Sarah;Min, Josine;Mitchison, Hannah;Moayyeri, Alireza;Morris, James;Muntoni, Francesco;Northstone, Kate;O'Donnovan, Michael;Onoufriadis, Alexandros;O'Rahilly, Stephen;Oualkacha, Karim;Owen, Michael J.;Palotie, Aarno;Panoutsopoulou, Kalliope;Parker, Victoria;Parr, Jeremy R.;Paternoster, Lavinia;Paunio, Tiina;Payne, Felicity;Perry, John;Pietilainen, Olli;Plagnol, Vincent;Quaye, Lydia;Quail, Michael A.;Raymond, Lucy;Rehnström, Karola;Richards, Brent;Ring, Susan;Ritchie, Graham R. S.;Roberts, Nicola;Savage, David B.;Scambler, Peter;Schiffels, Stephen;Schmidts, Miriam;Schoenmakers, Nadia;Semple, Robert K.;Serra, Eva;Sharp, Sally I.;Shihab, Hasheem;Skuse, David;Small, Kerrin;Spasic-Boskovic, Olivera;Spector, Tim;St Clair, David;Stalker, Jim;Stevens, Elizabeth;St Pourcian, Beate;Sun, Jianping;Surdulescu, Gabriela;Suvisaari, Jaana;Tachmazidou, Ionna;Timpson, Nicholas;Tobin, Martin D.;Valdes, Ana;Van Kogelenberg, Margriet;Vijayarangakannan, Parthiban;Visscher, Peter M.;Wain, Louise V.;Walters, James T. R.;Wang, Guangbiao;Wang, Jun;Wang, Yu;Ward, Kirsten;Wheeler, Elanor;Whyte, Tamieka;Williams, Hywel;Williamson, Kathleen A.;Wilson, Crispian;Wilson, Scott G.;Wong, Kim;Xu, ChangJiang;Yang, Jian;Zhang, Fend;Zhang, Pingbo;Zheng, Hou-Feng
Year: 2014
Publisher: Nature Pub. Group
Description: 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.
URI: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167609/pdf/
http://nrs.harvard.edu/urn-3:HUL.InstRepos:13347626
Standard no: 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.
2041-1723
Appears in Collections:HMS Scholarly Articles

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