Genome-wide association study of hematological and biochemical traits in a Japanese population

被引:404
作者
Kamatani, Yoichiro [1 ,2 ]
Matsuda, Koichi [1 ]
Okada, Yukinori [3 ]
Kubo, Michiaki [4 ]
Hosono, Naoya [4 ]
Daigo, Yataro [1 ,2 ]
Nakamura, Yusuke [1 ,5 ]
Kamatani, Naoyuki [3 ]
机构
[1] Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome, Tokyo, Japan
[2] Univ Tokyo, Grad Sch Frontier Sci, Dept Med Genome Sci, Tokyo, Japan
[3] RIKEN, Lab Stat Anal, Kanagawa, Japan
[4] RIKEN, Lab Genotyping Dev, Kanagawa, Japan
[5] RIKEN, Ctr Genom Med, Kanagawa, Japan
关键词
COMMON VARIABLE IMMUNODEFICIENCY; PLATELET GLYCOPROTEIN-IB; LOCI; VARIANTS; MUTATION; GENE; ERYTHROCYTE; PROTEIN; RISK; POLYMORPHISMS;
D O I
10.1038/ng.531
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report genome-wide association studies for hematological and biochemical traits from similar to 14,700 Japanese individuals. We identified 60 associations for 8 hematological traits and 29 associations for 12 biochemical traits at genome-wide significance levels (P < 5 x 10(-8)). Of these, 46 associations were new to this study and 43 replicated previous reports. We compared these associated loci with those reported in similar GWAS in European populations. When the minor allele frequency was >10% in the Japanese population, 32 (94.1%) and 31 (91.2%) of the 34 hematological loci previously reported to be associated in a European population were replicated with P-values less than 0.05 and 0.01, respectively, and 31 (73.8%) and 27 (64.3%) of the 42 European biochemical loci were replicated.
引用
收藏
页码:210 / U25
页数:7
相关论文
共 40 条
[1]  
[Anonymous], 2002, Meta-Analysis of Controlled Clinical Trials
[2]   Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts [J].
Aulchenko, Yurii S. ;
Ripatti, Samuli ;
Lindqvist, Ida ;
Boomsma, Dorret ;
Heid, Iris M. ;
Pramstaller, Peter P. ;
Penninx, Brenda W. J. H. ;
Janssens, A. Cecile J. W. ;
Wilson, James F. ;
Spector, Tim ;
Martin, Nicholas G. ;
Pedersen, Nancy L. ;
Kyvik, Kirsten Ohm ;
Kaprio, Jaakko ;
Hofman, Albert ;
Freimer, Nelson B. ;
Jarvelin, Marjo-Riitta ;
Gyllensten, Ulf ;
Campbell, Harry ;
Rudan, Igor ;
Johansson, Asa ;
Marroni, Fabio ;
Hayward, Caroline ;
Vitart, Veronique ;
Jonasson, Inger ;
Pattaro, Cristian ;
Wright, Alan ;
Hastie, Nick ;
Pichler, Irene ;
Hicks, Andrew A. ;
Falchi, Mario ;
Willemsen, Gonneke ;
Hottenga, Jouke-Jan ;
de Geus, Eco J. C. ;
Montgomery, Grant W. ;
Whitfield, John ;
Magnusson, Patrik ;
Saharinen, Juha ;
Perola, Markus ;
Silander, Kaisa ;
Isaacs, Aaron ;
Sijbrands, Eric J. G. ;
Uitterlinden, Andre G. ;
Witteman, Jacqueline C. M. ;
Oostra, Ben A. ;
Elliott, Paul ;
Ruokonen, Aimo ;
Sabatti, Chiara ;
Gieger, Christian ;
Meitinger, Thomas .
NATURE GENETICS, 2009, 41 (01) :47-55
[3]   Cloning and characterization of the human urea transporter UT-A1 and mapping of the human Slc14a2 gene [J].
Bagnasco, SM ;
Peng, T ;
Janech, MG ;
Karakashian, A ;
Sands, JM .
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 2001, 281 (03) :F400-F406
[4]   Common variants in TMPRSS6 are associated with iron status and erythrocyte volume [J].
Benyamin, Beben ;
Ferreira, Manuel A. R. ;
Willemsen, Gonneke ;
Gordon, Scott ;
Middelberg, Rita P. S. ;
McEvoy, Brian P. ;
Hottenga, Jouke-Jan ;
Henders, Anjali K. ;
Campbell, Megan J. ;
Wallace, Leanne ;
Frazer, Ian H. ;
Heath, Andrew C. ;
de Geus, Eco J. C. ;
Nyholt, Dale R. ;
Visscher, Peter M. ;
Penninx, Brenda W. ;
Boomsma, Dorret I. ;
Martin, Nicholas G. ;
Montgomery, Grant W. ;
Whitfield, John B. .
NATURE GENETICS, 2009, 41 (11) :1173-1175
[5]   TACI is mutant in common variable immunodeficiency and IgA deficiency [J].
Castigli, E ;
Wilson, SA ;
Garibyan, L ;
Rachid, R ;
Bonilla, F ;
Schneider, L ;
Geha, RS .
NATURE GENETICS, 2005, 37 (08) :829-834
[6]   Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels [J].
Chambers, John C. ;
Zhang, Weihua ;
Li, Yun ;
Sehmi, Joban ;
Wass, Mark N. ;
Zabaneh, Delilah ;
Hoggart, Clive ;
Bayele, Henry ;
McCarthy, Mark I. ;
Peltonen, Leena ;
Freimer, Nelson B. ;
Srai, Surjit K. ;
Maxwell, Patrick H. ;
Sternberg, Michael J. E. ;
Ruokonen, Aimo ;
Abecasis, Goncalo ;
Jarvelin, Marjo-Riitta ;
Scott, James ;
Elliott, Paul ;
Kooner, Jaspal S. .
NATURE GENETICS, 2009, 41 (11) :1170-1172
[7]   Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study [J].
Dehghan, Abbas ;
Kottgen, Anna ;
Yang, Qiong ;
Hwang, Shih Jen ;
Kao, W. H. Linda ;
Rivadeneira, Fernando ;
Boerwinkle, Eric ;
Levy, Daniel ;
Hofman, Albert ;
Astor, Brad C. ;
Benjamin, Emelia J. ;
van Duijn, Cornelia M. ;
Witteman, Jacqueline C. ;
Coresh, Josef ;
Fox, Caroline S. .
LANCET, 2008, 372 (9654) :1953-1961
[8]   PROTEIN TYROSINE PHOSPHATASES - A DIVERSE FAMILY OF INTRACELLULAR AND TRANSMEMBRANE ENZYMES [J].
FISCHER, EH ;
CHARBONNEAU, H ;
TONKS, NK .
SCIENCE, 1991, 253 (5018) :401-406
[9]   A second generation human haplotype map of over 3.1 million SNPs [J].
Frazer, Kelly A. ;
Ballinger, Dennis G. ;
Cox, David R. ;
Hinds, David A. ;
Stuve, Laura L. ;
Gibbs, Richard A. ;
Belmont, John W. ;
Boudreau, Andrew ;
Hardenbol, Paul ;
Leal, Suzanne M. ;
Pasternak, Shiran ;
Wheeler, David A. ;
Willis, Thomas D. ;
Yu, Fuli ;
Yang, Huanming ;
Zeng, Changqing ;
Gao, Yang ;
Hu, Haoran ;
Hu, Weitao ;
Li, Chaohua ;
Lin, Wei ;
Liu, Siqi ;
Pan, Hao ;
Tang, Xiaoli ;
Wang, Jian ;
Wang, Wei ;
Yu, Jun ;
Zhang, Bo ;
Zhang, Qingrun ;
Zhao, Hongbin ;
Zhao, Hui ;
Zhou, Jun ;
Gabriel, Stacey B. ;
Barry, Rachel ;
Blumenstiel, Brendan ;
Camargo, Amy ;
Defelice, Matthew ;
Faggart, Maura ;
Goyette, Mary ;
Gupta, Supriya ;
Moore, Jamie ;
Nguyen, Huy ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Roy, Jessica ;
Stahl, Erich ;
Winchester, Ellen ;
Ziaugra, Liuda ;
Altshuler, David ;
Shen, Yan .
NATURE, 2007, 449 (7164) :851-U3
[10]   Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium [J].
Ganesh, Santhi K. ;
Zakai, Neil A. ;
van Rooij, Frank J. A. ;
Soranzo, Nicole ;
Smith, Albert V. ;
Nalls, Michael A. ;
Chen, Ming-Huei ;
Kottgen, Anna ;
Glazer, Nicole L. ;
Dehghan, Abbas ;
Kuhnel, Brigitte ;
Aspelund, Thor ;
Yang, Qiong ;
Tanaka, Toshiko ;
Jaffe, Andrew ;
Bis, Joshua C. M. ;
Verwoert, Germaine C. ;
Teumer, Alexander ;
Fox, Caroline S. ;
Guralnik, Jack M. ;
Ehret, Georg B. ;
Rice, Kenneth ;
Felix, Janine F. ;
Rendon, Augusto ;
Eiriksdottir, Gudny ;
Levy, Daniel ;
Patel, Kushang V. ;
Boerwinkle, Eric ;
Rotter, Jerome I. ;
Hofman, Albert ;
Sambrook, Jennifer G. ;
Hernandez, Dena G. ;
Zheng, Gang ;
Bandinelli, Stefania ;
Singleton, Andrew B. ;
Coresh, Josef ;
Lumley, Thomas ;
Uitterlinden, Andre G. ;
vanGils, Janine M. ;
Launer, Lenore J. ;
Cupples, L. Adrienne ;
Oostra, Ben A. ;
Zwaginga, Jaap-Jan ;
Ouwehand, Willem H. ;
Thein, Swee-Lay ;
Meisinger, Christa ;
Deloukas, Panos ;
Nauck, Matthias ;
Spector, Tim D. ;
Gieger, Christian .
NATURE GENETICS, 2009, 41 (11) :1191-U48