Personal genomes: The case of the missing heritability

被引:1199
作者
Maher, Brendan
机构
关键词
D O I
10.1038/456018a
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
When scientists opened up the human genome, they expected to find the genetic components of common traits and diseases. But they were nowhere to be seen. Brendan Maher shines a light on six places where the missing loot could be stashed away.
引用
收藏
页码:18 / 21
页数:4
相关论文
共 12 条
[1]   Genetic dissection of transcriptional regulation in budding yeast [J].
Brem, RB ;
Yvert, G ;
Clinton, R ;
Kruglyak, L .
SCIENCE, 2002, 296 (5568) :752-755
[2]   The genetics of autistic disorders and its clinical relevance: a review of the literature [J].
Freitag, C. M. .
MOLECULAR PSYCHIATRY, 2007, 12 (01) :2-22
[3]   Many sequence variants affecting diversity of adult human height [J].
Gudbjartsson, Daniel F. ;
Walters, G. Bragi ;
Thorleifsson, Gudmar ;
Stefansson, Hreinn ;
Halldorsson, Bjarni V. ;
Zusmanovich, Pasha ;
Sulem, Patrick ;
Thorlacius, Steinunn ;
Gylfason, Arnaldur ;
Steinberg, Stacy ;
Helgadottir, Anna ;
Ingason, Andres ;
Steinthorsdottir, Valgerdur ;
Olafsdottir, Elinborg J. ;
Olafsdottir, Gudridur H. ;
Jonsson, Thorvaldur ;
Borch-Johnsen, Knut ;
Hansen, Torben ;
Andersen, Gitte ;
Jorgensen, Torben ;
Pedersen, Oluf ;
Aben, Katja K. ;
Witjes, J. Alfred ;
Swinkels, Dorine W. ;
den Heijer, Martin ;
Franke, Barbara ;
Verbeek, Andre L. M. ;
Becker, Diane M. ;
Yanek, Lisa R. ;
Becker, Lewis C. ;
Tryggvadottir, Laufey ;
Rafnar, Thorunn ;
Gulcher, Jeffrey ;
Kiemeney, Lambertus A. ;
Kong, Augustine ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
NATURE GENETICS, 2008, 40 (05) :609-615
[4]   Trans-generational epistasis between Dnd1Ter and other modifier genes controls susceptibility to testicular germ cell tumors [J].
Lam, Man-Yee J. ;
Heaney, Jason D. ;
Youngren, Kirsten K. ;
Kawasoe, Jean H. ;
Nadeau, Joseph H. .
HUMAN MOLECULAR GENETICS, 2007, 16 (18) :2233-2240
[5]   Identification of ten loci associated with height highlights new biological pathways in human growth [J].
Lettre, Guillaume ;
Jackson, Anne U. ;
Gieger, Christian ;
Schumacher, Fredrick R. ;
Berndt, Sonja I. ;
Sanna, Serena ;
Eyheramendy, Susana ;
Voight, Benjamin F. ;
Butler, Johannah L. ;
Guiducci, Candace ;
Illig, Thomas ;
Hackett, Rachel ;
Heid, Iris M. ;
Jacobs, Kevin B. ;
Lyssenko, Valeriya ;
Uda, Manuela ;
Boehnke, Michael ;
Chanock, Stephen J. ;
Groop, Leif C. ;
Hu, Frank B. ;
Isomaa, Bo ;
Kraft, Peter ;
Peltonen, Leena ;
Salomaa, Veikko ;
Schlessinger, David ;
Hunter, David J. ;
Hayes, Richard B. ;
Abecasis, Goncalo R. ;
Wichmann, H-Erich ;
Mohlke, Karen L. ;
Hirschhorn, Joel N. .
NATURE GENETICS, 2008, 40 (05) :584-591
[6]   Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL [J].
Romeo, Stefano ;
Pennacchio, Len A. ;
Fu, Yunxin ;
Boerwinkle, Eric ;
Tybjaerg-Hansen, Anne ;
Hobbs, Helen H. ;
Cohen, Jonathan C. .
NATURE GENETICS, 2007, 39 (04) :513-516
[7]   Large recurrent microdeletions associated with schizophrenia [J].
Stefansson, Hreinn ;
Rujescu, Dan ;
Cichon, Sven ;
Pietilainen, Olli P. H. ;
Ingason, Andres ;
Steinberg, Stacy ;
Fossdal, Ragnheidur ;
Sigurdsson, Engilbert ;
Sigmundsson, Thordur ;
Buizer-Voskamp, Jacobine E. ;
Hansen, Thomas ;
Jakobsen, Klaus D. ;
Muglia, Pierandrea ;
Francks, Clyde ;
Matthews, Paul M. ;
Gylfason, Arnaldur ;
Halldorsson, Bjarni V. ;
Gudbjartsson, Daniel ;
Thorgeirsson, Thorgeir E. ;
Sigurdsson, Asgeir ;
Jonasdottir, Adalbjorg ;
Jonasdottir, Aslaug ;
Bjornsson, Asgeir ;
Mattiasdottir, Sigurborg ;
Blondal, Thorarinn ;
Haraldsson, Magnus ;
Magnusdottir, Brynja B. ;
Giegling, Ina ;
Moeller, Hans-Juergen ;
Hartmann, Annette ;
Shianna, Kevin V. ;
Ge, Dongliang ;
Need, Anna C. ;
Crombie, Caroline ;
Fraser, Gillian ;
Walker, Nicholas ;
Lonnqvist, Jouko ;
Suvisaari, Jaana ;
Tuulio-Henriksson, Annamarie ;
Paunio, Tiina ;
Toulopoulou, Timi ;
Bramon, Elvira ;
Di Forti, Marta ;
Murray, Robin ;
Ruggeri, Mirella ;
Vassos, Evangelos ;
Tosato, Sarah ;
Walshe, Muriel ;
Li, Tao ;
Vasilescu, Catalina .
NATURE, 2008, 455 (7210) :232-U61
[8]   Rare chromosomal deletions and duplications increase risk of schizophrenia [J].
Stone, Jennifer L. ;
O'Donovan, Michael C. ;
Gurling, Hugh ;
Kirov, George K. ;
Blackwood, Douglas H. R. ;
Corvin, Aiden ;
Craddock, Nick J. ;
Gill, Michael ;
Hultman, Christina M. ;
Lichtenstein, Paul ;
McQuillin, Andrew ;
Pato, Carlos N. ;
Ruderfer, Douglas M. ;
Owen, Michael J. ;
St Clair, David ;
Sullivan, Patrick F. ;
Sklar, Pamela ;
Purcell, Shaun M. ;
Scolnick, E. M. ;
Holmans, P. A. ;
Georgieva, L. ;
Nikolov, I. ;
Norton, N. ;
Williams, H. ;
Williams, N. M. ;
Toncheva, D. ;
Milanova, V. ;
Thelander, E. F. ;
Morris, D. W. ;
O'Dushlaine, C. T. ;
Kenny, E. ;
Waddington, J. L. ;
Choudhury, K. ;
Datta, S. ;
Pimm, J. ;
Thirumalai, S. ;
Puri, V. ;
Krasucki, R. ;
Lawrence, J. ;
Quested, D. ;
Bass, N. ;
Curtis, D. ;
Crombie, C. ;
Fraser, G. ;
Kwan, S. L. ;
Muir, W. J. ;
McGhee, K. A. ;
Pickard, B. ;
Malloy, P. ;
Maclean, A. W. .
NATURE, 2008, 455 (7210) :237-241
[9]   The genetics of schizophrenia [J].
Sullivan, PF .
PLOS MEDICINE, 2005, 2 (07) :614-618
[10]   Sizing up human height variation [J].
Visscher, Peter M. .
NATURE GENETICS, 2008, 40 (05) :489-490