The resequencing imperative

被引:32
作者
Topol, Eric J. [1 ]
Frazer, Kelly A. [1 ]
机构
[1] Scripps Res Inst, La Jolla, CA 92037 USA
关键词
D O I
10.1038/ng0407-439
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The possibility of deep population resequencing of genes has generated excitement over its potentially promising role in understanding complex human traits. A new study has now demonstrated the utility of this approach, reporting the resequencing of a lipid metabolism gene in a large multiethnic population and definitively showing that coding variants in the gene are associated with plasma triglyceride levels.
引用
收藏
页码:439 / 440
页数:2
相关论文
共 16 条
[1]   A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization [J].
Arking, Dan E. ;
Pfeufer, Arne ;
Post, Wendy ;
Kao, W. H. Linda ;
Newton-Cheh, Christopher ;
Ikeda, Morna ;
West, Kristen ;
Kashuk, Carl ;
Akyol, Mahmut ;
Perz, Siegfried ;
Jalilzadeh, Shapour ;
Illig, Thomas ;
Gieger, Christian ;
Guo, Chao-Yu ;
Larson, Martin G. ;
Wichmann, H. Erich ;
Marban, Eduardo ;
O'Donnell, Christopher J. ;
Hirschhorn, Joel N. ;
Kaeaeb, Stefan ;
Spooner, Peter M. ;
Meitinger, Thomas ;
Chakravarti, Aravinda .
NATURE GENETICS, 2006, 38 (06) :644-651
[2]   Low LDL cholesterol in African Americans resulting from frequent nonsense mutations in PCSK9 [J].
Cohen, J ;
Pertsemlidis, A ;
Kotowski, IK ;
Graham, R ;
Garcia, CK ;
Hobbs, HH .
NATURE GENETICS, 2005, 37 (03) :328-328
[3]   Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels [J].
Cohen, JC ;
Pertsemlidis, A ;
Fahmi, S ;
Esmail, S ;
Vega, GL ;
Grundy, SM ;
Hobbs, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (06) :1810-1815
[4]   Multiple rare Alleles contribute to low plasma levels of HDL cholesterol [J].
Cohen, JC ;
Kiss, RS ;
Pertsemlidis, A ;
Marcel, YL ;
McPherson, R ;
Hobbs, HH .
SCIENCE, 2004, 305 (5685) :869-872
[5]   A genome-wide association study identifies IL23R as an inflammatory bowel disease gene [J].
Duerr, Richard H. ;
Taylor, Kent D. ;
Brant, Steven R. ;
Rioux, John D. ;
Silverberg, Mark S. ;
Daly, Mark J. ;
Steinhart, A. Hillary ;
Abraham, Clara ;
Regueiro, Miguel ;
Griffiths, Anne ;
Dassopoulos, Themistocles ;
Bitton, Alain ;
Yang, Huiying ;
Targan, Stephan ;
Datta, Lisa Wu ;
Kistner, Emily O. ;
Schumm, L. Philip ;
Lee, Annette T. ;
Gregersen, Peter K. ;
Barmada, M. Michael ;
Rotter, Jerome I. ;
Nicolae, Dan L. ;
Cho, Judy H. .
SCIENCE, 2006, 314 (5804) :1461-1463
[6]   A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus [J].
Graham, RR ;
Kozyrev, SV ;
Baechler, EC ;
Reddy, MPL ;
Plenge, RM ;
Bauer, JW ;
Ortmann, WA ;
Koeuth, T ;
Escribano, MF ;
Pons-Estel, B ;
Petri, M ;
Daly, M ;
Gregersen, PK ;
Martin, J ;
Altshuler, D ;
Behrens, TW ;
Alarcón-Riquelme, ME .
NATURE GENETICS, 2006, 38 (05) :550-555
[7]   Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes [J].
Grant, SFA ;
Thorleifsson, G ;
Reynisdottir, I ;
Benediktsson, R ;
Manolescu, A ;
Sainz, J ;
Helgason, A ;
Stefansson, H ;
Emilsson, V ;
Helgadottir, A ;
Styrkarsdottir, U ;
Magnusson, KP ;
Walters, GB ;
Palsdottir, E ;
Jonsdottir, T ;
Gudmundsdottir, T ;
Gylfason, A ;
Saemundsdottir, J ;
Wilensky, RL ;
Reilly, MP ;
Rader, DJ ;
Bagger, Y ;
Christiansen, C ;
Gudnason, V ;
Sigurdsson, G ;
Thorsteinsdottir, U ;
Gulcher, JR ;
Kong, A ;
Stefansson, K .
NATURE GENETICS, 2006, 38 (03) :320-323
[8]   A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 [J].
Hampe, Jochen ;
Franke, Andre ;
Rosenstiel, Philip ;
Till, Andreas ;
Teuber, Markus ;
Huse, Klaus ;
Albrecht, Mario ;
Mayr, Gabriele ;
De La Vega, Francisco M. ;
Briggs, Jason ;
Guenther, Simone ;
Prescott, Natalie J. ;
Onnie, Clive M. ;
Haesler, Robert ;
Sipos, Bence ;
Foelsch, Ulrich R. ;
Lengauer, Thomas ;
Platzer, Matthias ;
Mathew, Christopher G. ;
Krawczak, Michael ;
Schreiber, Stefan .
NATURE GENETICS, 2007, 39 (02) :207-211
[9]   A "silent" polymorphism in the MDR1 gene changes substrate specificity [J].
Kimchi-Sarfaty, Chava ;
Oh, Jung Mi ;
Kim, In-Wha ;
Sauna, Zuben E. ;
Calcagno, Anna Maria ;
Ambudkar, Suresh V. ;
Gottesman, Michael M. .
SCIENCE, 2007, 315 (5811) :525-528
[10]   CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration [J].
Li, Mingyao ;
Atmaca-Sonmez, Pelin ;
Othman, Mohammad ;
Branham, Kari E. H. ;
Khanna, Ritu ;
Wade, Michael S. ;
Li, Yun ;
Liang, Liming ;
Zareparsi, Sepideh ;
Swaroop, Anand ;
Abecasis, Goncalo R. .
NATURE GENETICS, 2006, 38 (09) :1049-1054