Erratum: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height ((The American Journal of Human Genetics (2010) 88 (6-18))

Matthew B. Lanktree,Yiran Guo,Muhammed Murtaza,Joseph T. Glessner,Swneke D. Bailey,N. Charlotte Onland-Moret,Guillaume Lettre,Halit Ongen,Ramakrishnan Rajagopalan,Toby Johnson,Haiqing Shen,Christopher P. Nelson,Norman Klopp,Jens Baumert,Sandosh Padmanabhan,Nathan Pankratz,James S. Pankow,Sonia Shah,Kira C. Taylor,John Barnard,Bas Jm Peters, Cliona M. Maloney,Maximilian T. Lobmeyer,Alice Stanton, M. Hadi Zafarmand,Simon P.R. Romaine,Amar J. Mehta,Erik P A Van Iperen,Yan Gong,Thomas S. Price,Erin N. Smith,Cecilia E. Kim,Yun R. Li,Folkert W. Asselbergs,Larry D. Atwood,Kristian M. Bailey,Deepak L. Bhatt,Florianne Bauer,Elijah R. Behr,Tushar Bhangale,Jolanda M. A. Boer,Bernhard O. Boehm,Jonathan P. Bradfield,Morris J. Brown,Peter S. Braund,Paul R. Burton,Cara L. Carty,Hareesh R. Chandrupatla,Wei Chen,John M. Connell,Chrysoula Dalgeorgou,Anthonius de Boer,Fotios Drenos,Clara C. Elbers,James C. Fang,Caroline S. Fox,Edward C. Frackelton,Barry D. Fuchs,Clement E. Furlong,Quince Gibson,Christian Gieger,Anuj Goel,D. E. Grobbee,Claire E. Hastie,Philip Howard,Guan-Hua Huang,W. Craig Johnson,Qing Li,Marcus E. Kleber,Barbara E. K. Klein,Ronald Klein,Charles Kooperberg,Bonnie Ky,Andrea Z. LaCroix,Paul N. Lanken,Mark Lathrop,Mingyao Li,Vanessa Marshall,Olle Melander,Frank D. Mentch,Nuala J. Meyer,Keri L. Monda,Alexandre Montpetit,Gurunathan Murugesan, Karen Nakayama,Dave Nondahl,Abiodun Onipinla, Suzanne Rafelt,Stephen Newhouse,F. George Otieno,Sanjey R. Patel,Mary E. Putt,Santiago Rodriguez,Radwan Safa,Douglas B. Sawyer,Pamela J. Schreiner,Claire L. Simpson,Suthesh Sivapalaratnam,Christine Suver, Gary D. Swergold,Nancy K. Sweitzer,Kelly Thomas,Barbara Thorand,Nicholas J. Timpson,Sam E. Tischfield,Martin D. Tobin,Mac Iej Tomaszewski,W. M. Monique Verschuren,Chris Wallace,Bernhard R. Winkelmann,Haitao Zhang,Dongling Zheng,Li Zhang,Joseph M. Zmuda,Robert Clarke,Anthony J. Balmforth,John Danesh,Ian N. M. Day,Nicholas J. Schork,Paul I. W. de Bakker,Christian Delles,David Duggan,Aroon D. Hingorani,Joel N. Hirschhorn,Marten H. Hofker,Steve E. Humphries,Mika Kivimäki,Debbie A. Lawlor,Kandice Kottke-Marchant,Jessica L. Mega,Braxton D. Mitchell,David A. Morrow,Jutta Palmen,Susan Redline,Denis C. Shields,Alan R. Shuldiner,Patrick Sleiman,George Davey Smith,Martin Farrall,Yalda Jamshidi,David C. Christiani,Juan P. Casas,Alistair S. Hall,Pieter A. Doevendans,Jason D. Christie,Gerald S. Berenson,Sarah S. Murray,Thomas Illig,Gerald W. Dorn,Thomas P. Cappola,Eric Boerwinkle,Peter Sever,Daniel J. Rader,Muredach P. Reilly,Mark J. Caulfield,Philippa J. Talmud,Eric J. Topol,James C. Engert,Kai Wang,Anna F. Dominiczak,Anders Hamsten,Sean P. Curtis,Roy L. Silverstein,Leslie A. Lange,Marc S. Sabatine,Mieke D. Trip,Danish Saleheen,John F. Peden,Karen J. Cruickshanks,Winfried März,Jeffrey R. O'Connell,Olaf H. Klungel,Cisca Wijmenga,Anke Hilse Maitland-van der Zee,Eric E. Schadt,Julie A. Johnson,Gail P. Jarvik, George J. Papanicolaou,Struan F. A. Grant,Patricia B. Munroe,Kari E. North,Nilesh J. Samani,Wolfgang Koenig,Tom R. Gaunt,Sonia S. Anand,Yvonne T. van der Schouw,Nicole Soranzo,Garret A. FitzGerald,Alex P. Reiner,Robert A. Hegele,Hakon Hakonarson,Brendan J. Keating

The American Journal of Human Genetics(2012)

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摘要
Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 x 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 x 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 x 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.
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关键词
gene frequency,interleukin 11,cardiovascular system,genetic heterogeneity,genome wide association study,genetic loci,polymorphism
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