Isolated populations and complex disease gene identification

被引:105
作者
Kristiansson, Kati [1 ,2 ]
Naukkarinen, Jussi [1 ,3 ]
Peltonen, Leena [1 ,2 ,3 ]
机构
[1] Inst Mol Med, Natl Publ Hlth Inst, Helsinki 00300, Finland
[2] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
[3] Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland
关键词
D O I
10.1186/gb-2008-9-8-109
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
The utility of genetically isolated populations (population isolates) in the mapping and identification of genes is not only limited to the study of rare diseases; isolated populations also provide a useful resource for studies aimed at improved understanding of the biology underlying common diseases and their component traits. Well characterized human populations provide excellent study samples for many different genetic investigations, ranging from genome-wide association studies to the characterization of interactions between genes and the environment.
引用
收藏
页数:9
相关论文
共 86 条
[21]   Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations [J].
Gu, Sheng ;
Pakstis, Andrew J. ;
Li, Hui ;
Speed, William C. ;
Kidd, Judith R. ;
Kidd, Kenneth K. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (03) :302-312
[22]   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
[23]   Variants conferring risk of atrial fibrillation on chromosome 4q25 [J].
Gudbjartsson, Daniel F. ;
Arnar, David O. ;
Helgadottir, Anna ;
Gretarsdottir, Solveig ;
Holm, Hilma ;
Sigurdsson, Asgeir ;
Jonasdottir, Adalbjorg ;
Baker, Adam ;
Thorleifsson, Gudmar ;
Kristjansson, Kristleifur ;
Palsson, Arnar ;
Blondal, Thorarinn ;
Sulem, Patrick ;
Backman, Valgerdur M. ;
Hardarson, Gudmundur A. ;
Palsdottir, Ebba ;
Helgason, Agnar ;
Sigurjonsdottir, Runa ;
Sverrisson, Jon T. ;
Kostulas, Konstantinos ;
Ng, Maggie C. Y. ;
Baum, Larry ;
So, Wing Yee ;
Wong, Ka Sing ;
Chan, Juliana C. N. ;
Furie, Karen L. ;
Greenberg, Steven M. ;
Sale, Michelle ;
Kelly, Peter ;
MacRae, Calum A. ;
Smith, Eric E. ;
Rosand, Jonathan ;
Hillert, Jan ;
Ma, Ronald C. W. ;
Ellinor, Patrick T. ;
Thorgeirsson, Gudmundur ;
Gulcher, Jeffrey R. ;
Kong, Augustine ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
NATURE, 2007, 448 (7151) :353-357
[24]   Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer [J].
Gudmundsson, Julius ;
Sulem, Patrick ;
Rafnar, Thorunn ;
Bergthorsson, Jon T. ;
Manolescu, Andrei ;
Gudbjartsson, Daniel ;
Agnarsson, Bjarni A. ;
Sigurdsson, Asgeir ;
Benediktsdottir, Kristrun R. ;
Blondal, Thorarinn ;
Jakobsdottir, Margret ;
Stacey, Simon N. ;
Kostic, Jelena ;
Kristinsson, Kari T. ;
Birgisdottir, Birgitta ;
Ghosh, Shyamali ;
Magnusdottir, Droplaug N. ;
Thorlacius, Steinunn ;
Thorleifsson, Gudmar ;
Zheng, S. Lilly ;
Sun, Jielin ;
Chang, Bao-Li ;
Elmore, J. Bradford ;
Breyer, Joan P. ;
McReynolds, Kate M. ;
Bradley, Kevin M. ;
Yaspan, Brian L. ;
Wiklund, Fredrik ;
Stattin, Par ;
Lindstrom, Sara ;
Adami, Hans-Olov ;
McDonnell, Shannon K. ;
Schaid, Daniel J. ;
Cunningham, Julie M. ;
Wang, Liang ;
Cerhan, James R. ;
St Sauver, Jennifer L. ;
Isaacs, Sara D. ;
Wiley, Kathleen E. ;
Partin, Alan W. ;
Walsh, Patrick C. ;
Polo, Sonia ;
Ruiz-Echarri, Manuel ;
Navarrete, Sebastian ;
Fuertes, Fernando ;
Saez, Berta ;
Godino, Javier ;
Weijerman, Philip C. ;
Swinkels, Dorine W. ;
Aben, Katja K. .
NATURE GENETICS, 2008, 40 (03) :281-283
[25]   Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes [J].
Gudmundsson, Julius ;
Sulem, Patrick ;
Steinthorsdottir, Valgerdur ;
Bergthorsson, Jon T. ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Rafnar, Thorunn ;
Gudbjartsson, Daniel ;
Agnarsson, Bjarni A. ;
Baker, Adam ;
Sigurdsson, Asgeir ;
Benediktsdottir, Kristrun R. ;
Jakobsdottir, Margret ;
Blondal, Thorarinn ;
Stacey, Simon N. ;
Helgason, Agnar ;
Gunnarsdottir, Steinunn ;
Olafsdottir, Adalheidur ;
Kristinsson, Kari T. ;
Birgisdottir, Birgitta ;
Ghosh, Shyamali ;
Thorlacius, Steinunn ;
Magnusdottir, Dana ;
Stefansdottir, Gerdur ;
Kristjansson, Kristleifur ;
Bagger, Yu ;
Wilensky, Robert L. ;
Reilly, Muredach P. ;
Morris, Andrew D. ;
Kimber, Charlotte H. ;
Adeyemo, Adebowale ;
Chen, Yuanxiu ;
Zhou, Jie ;
So, Wing-Yee ;
Tong, Peter C. Y. ;
Ng, Maggie C. Y. ;
Hansen, Torben ;
Andersen, Gitte ;
Borch-Johnsen, Knut ;
Jorgensen, Torben ;
Tres, Alejandro ;
Fuertes, Fernando ;
Ruiz-Echarri, Manuel ;
Asin, Laura ;
Saez, Berta ;
van Boven, Erica ;
Klaver, Siem ;
Swinkels, Dorine W. ;
Aben, Katja K. ;
Graif, Theresa .
NATURE GENETICS, 2007, 39 (08) :977-983
[26]   The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke [J].
Helgadottir, A ;
Manolescu, A ;
Thorleifsson, G ;
Gretarsdottir, S ;
Jonsdottir, H ;
Thorsteinsdottir, U ;
Samani, NJ ;
Gudmundsson, G ;
Grant, SFA ;
Thorgeirsson, G ;
Sveinbjornsdottir, S ;
Valdimarsson, EM ;
Matthiasson, SE ;
Johannsson, H ;
Gudmundsdottir, O ;
Gurney, ME ;
Sainz, J ;
Thorhallsdottir, M ;
Andresdottir, M ;
Frigge, ML ;
Topol, EJ ;
Kong, A ;
Gudnason, V ;
Hakonarson, H ;
Gulcher, JR ;
Stefansson, K .
NATURE GENETICS, 2004, 36 (03) :233-239
[27]   The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm [J].
Helgadottir, Anna ;
Thorleifsson, Gudmar ;
Magnusson, Kristinn P. ;
Gretarsdottir, Solveig ;
Steinthorsdottir, Valgerdur ;
Manolescu, Andrei ;
Jones, Gregory T. ;
Rinkel, Gabriel J. E. ;
Blankensteijn, Jan D. ;
Ronkainen, Antti ;
Jaaskelainen, Juha E. ;
Kyo, Yoshiki ;
Lenk, Guy M. ;
Sakalihasan, Natzi ;
Kostulas, Konstantinos ;
Gottsater, Anders ;
Flex, Andrea ;
Stefansson, Hreinn ;
Hansen, Torben ;
Andersen, Gitte ;
Weinsheimer, Shantel ;
Borch-Johnsen, Knut ;
Jorgensen, Torben ;
Shah, Svati H. ;
Quyyumi, Arshed A. ;
Granger, Christopher B. ;
Reilly, Muredach P. ;
Austin, Harland ;
Levey, Allan I. ;
Vaccarino, Viola ;
Palsdottir, Ebba ;
Walters, G. Bragi ;
Jonsdottir, Thorbjorg ;
Snorradottir, Steinunn ;
Magnusdottir, Dana ;
Gudmundsson, Gudmundur ;
Ferrell, Robert E. ;
Sveinbjornsdottir, Sigurlaug ;
Hernesniemi, Juha ;
Niemela, Mika ;
Limet, Raymond ;
Andersen, Karl ;
Sigurdsson, Gunnar ;
Benediktsson, Rafn ;
Verhoeven, Eric L. G. ;
Teijink, Joep A. W. ;
Grobbee, Diederick E. ;
Rader, Daniel J. ;
Collier, David A. ;
Pedersen, Oluf .
NATURE GENETICS, 2008, 40 (02) :217-224
[28]   A common variant on chromosome 9p21 affects the risk of myocardial infarction [J].
Helgadottir, Anna ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Gretarsdottir, Solveig ;
Blondal, Thorarinn ;
Jonasdottir, Aslaug ;
Jonasdottir, Adalbjorg ;
Sigurdsson, Asgeir ;
Baker, Adam ;
Palsson, Arnar ;
Masson, Gisli ;
Gudbjartsson, Daniel F. ;
Magnusson, Kristinn P. ;
Andersen, Karl ;
Levey, Allan I. ;
Backman, Valgerdur M. ;
Matthiasdottir, Sigurborg ;
Jonsdottir, Thorbjorg ;
Palsson, Stefan ;
Einarsdottir, Helga ;
Gunnarsdottir, Steinunn ;
Gylfason, Arnaldur ;
Vaccarino, Viola ;
Hooper, W. Craig ;
Reilly, Muredach P. ;
Granger, Christopher B. ;
Austin, Harland ;
Rader, Daniel J. ;
Shah, Svati H. ;
Quyyumi, Arshed A. ;
Gulcher, Jeffrey R. ;
Thorgeirsson, Gudmundur ;
Thorsteinsdottir, Unnur ;
Kong, Augustine ;
Stefansson, Kari .
SCIENCE, 2007, 316 (5830) :1491-1493
[29]   A reassessment of genetic diversity in icelanders:: Strong evidence from multiple loci for relative homogeneity caused by genetic drift [J].
Helgason, A ;
Nicholson, G ;
Stefánsson, K ;
Donnelly, P .
ANNALS OF HUMAN GENETICS, 2003, 67 :281-297
[30]   Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects [J].
Hennah, W ;
Varilo, T ;
Kestilä, M ;
Paunio, T ;
Arajärvi, R ;
Haukka, J ;
Parker, A ;
Martin, R ;
Levitzky, S ;
Partonen, T ;
Meyer, J ;
Lönnqvist, J ;
Peltonen, L ;
Ekelund, J .
HUMAN MOLECULAR GENETICS, 2003, 12 (23) :3151-3159