The search for association

被引：23

作者：

Baker, Monya

机构：

[1] Monya Baker is technology editor for Nature and Nature Methods.,

来源：

NATURE | 2010年 / 467卷 / 7319期

关键词：

GENOME-WIDE ASSOCIATION; COMMON; VARIANTS;

D O I：

10.1038/4671135a

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：

The list of human genetic variations is expanding; but an understanding of how they contribute to disease is still patchy.

引用

页码：1135 / U150

页数：6

共 10 条

[1] Integrating common and rare genetic variation in diverse human populations [J].

Altshuler, David M. ;

Gibbs, Richard A. ;

Peltonen, Leena ;

Dermitzakis, Emmanouil ;

Schaffner, Stephen F. ;

Yu, Fuli ;

Bonnen, Penelope E. ;

de Bakker, Paul I. W. ;

Deloukas, Panos ;

Gabriel, Stacey B. ;

Gwilliam, Rhian ;

Hunt, Sarah ;

Inouye, Michael ;

Jia, Xiaoming ;

Palotie, Aarno ;

Parkin, Melissa ;

Whittaker, Pamela ;

Chang, Kyle ;

Hawes, Alicia ;

Lewis, Lora R. ;

Ren, Yanru ;

Wheeler, David ;

Muzny, Donna Marie ;

Barnes, Chris ;

Darvishi, Katayoon ;

Hurles, Matthew ;

Korn, Joshua M. ;

Kristiansson, Kati ;

Lee, Charles ;

McCarroll, Steven A. ;

Nemesh, James ;

Keinan, Alon ;

Montgomery, Stephen B. ;

Pollack, Samuela ;

Price, Alkes L. ;

Soranzo, Nicole ;

Gonzaga-Jauregui, Claudia ;

Anttila, Verneri ;

Brodeur, Wendy ;

Daly, Mark J. ;

Leslie, Stephen ;

McVean, Gil ;

Moutsianas, Loukas ;

Nguyen, Huy ;

Zhang, Qingrun ;

Ghori, Mohammed J. R. ;

McGinnis, Ralph ;

McLaren, William ;

Takeuchi, Fumihiko ;

Grossman, Sharon R. .

NATURE, 2010, 467 (7311) :52-58

[2] Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13 [J].

Burkhardt, Ralph ;

Kenny, Eimear E. ;

Lowe, Jennifer K. ;

Birkeland, Andrew ;

Josowitz, Rebecca ;

Noel, Martha ;

Salit, Jacqueline ;

Maller, Julian B. ;

Pe'er, Itsik ;

Daly, Mark J. ;

Altshuler, David ;

Stoffel, Markus ;

Friedman, Jeffrey M. ;

Breslow, Jan L. .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2008, 28 (11) :2078-U332

[3] Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls [J].

Craddock, Nick ;

Hurles, Matthew E. ;

Cardin, Niall ;

Pearson, Richard D. ;

Plagnol, Vincent ;

Robson, Samuel ;

Vukcevic, Damjan ;

Barnes, Chris ;

Conrad, Donald F. ;

Giannoulatou, Eleni ;

Holmes, Chris ;

Marchini, Jonathan L. ;

Stirrups, Kathy ;

Tobin, Martin D. ;

Wain, Louise V. ;

Yau, Chris ;

Aerts, Jan ;

Ahmad, Tariq ;

Andrews, T. Daniel ;

Arbury, Hazel ;

Attwood, Anthony ;

Auton, Adam ;

Ball, Stephen G. ;

Balmforth, Anthony J. ;

Barrett, Jeffrey C. ;

Barroso, Ines ;

Barton, Anne ;

Bennett, Amanda J. ;

Bhaskar, Sanjeev ;

Blaszczyk, Katarzyna ;

Bowes, John ;

Brand, Oliver J. ;

Braund, Peter S. ;

Bredin, Francesca ;

Breen, Gerome ;

Brown, Morris J. ;

Bruce, Ian N. ;

Bull, Jaswinder ;

Burren, Oliver S. ;

Burton, John ;

Byrnes, Jake ;

Caesar, Sian ;

Clee, Chris M. ;

Coffey, Alison J. ;

Connell, John M. C. ;

Cooper, Jason D. ;

Dominiczak, Anna F. ;

Downes, Kate ;

Drummond, Hazel E. ;

Dudakia, Darshna .

NATURE, 2010, 464 (7289) :713-U86

[4] Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia [J].

Johansen, Christopher T. ;

Wang, Jian ;

Lanktree, Matthew B. ;

Cao, Henian ;

McIntyre, Adam D. ;

Ban, Matthew R. ;

Martins, Rebecca A. ;

Kennedy, Brooke A. ;

Hassell, Reina G. ;

Visser, Maartje E. ;

Schwartz, Stephen M. ;

Voight, Benjamin F. ;

Elosua, Roberto ;

Salomaa, Veikko ;

O'Donnell, Christopher J. ;

Dallinga-Thie, Geesje M. ;

Anand, Sonia S. ;

Yusuf, Salim ;

Huff, Murray W. ;

Kathiresan, Sekar ;

Hegele, Robert A. .

NATURE GENETICS, 2010, 42 (08) :684-+

[5] Exome sequencing identifies the cause of a mendelian disorder [J].

Ng, Sarah B. ;

Buckingham, Kati J. ;

Lee, Choli ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Dent, Karin M. ;

Huff, Chad D. ;

Shannon, Paul T. ;

Jabs, Ethylin Wang ;

Nickerson, Deborah A. ;

Shendure, Jay ;

Bamshad, Michael J. .

NATURE GENETICS, 2010, 42 (01) :30-U41

[6] Towards a comprehensive structural variation map of an individual human genome [J].

Pang, Andy W. ;

MacDonald, Jeffrey R. ;

Pinto, Dalila ;

Wei, John ;

Rafiq, Muhammad A. ;

Conrad, Donald F. ;

Park, Hansoo ;

Hurles, Matthew E. ;

Lee, Charles ;

Venter, J. Craig ;

Kirkness, Ewen F. ;

Levy, Samuel ;

Feuk, Lars ;

Scherer, Stephen W. .

GENOME BIOLOGY, 2010, 11 (05)

[7] Estimation of effect size distribution from genome-wide association studies and implications for future discoveries [J].

Park, Ju-Hyun ;

Wacholder, Sholom ;

Gail, Mitchell H. ;

Peters, Ulrike ;

Jacobs, Kevin B. ;

Chanock, Stephen J. ;

Chatterjee, Nilanjan .

NATURE GENETICS, 2010, 42 (07) :570-U139

[8] Functional impact of global rare copy number variation in autism spectrum disorders [J].

Pinto, Dalila ;

Pagnamenta, Alistair T. ;

Klei, Lambertus ;

Anney, Richard ;

Merico, Daniele ;

Regan, Regina ;

Conroy, Judith ;

Magalhaes, Tiago R. ;

Correia, Catarina ;

Abrahams, Brett S. ;

Almeida, Joana ;

Bacchelli, Elena ;

Bader, Gary D. ;

Bailey, Anthony J. ;

Baird, Gillian ;

Battaglia, Agatino ;

Berney, Tom ;

Bolshakova, Nadia ;

Boelte, Sven ;

Bolton, Patrick F. ;

Bourgeron, Thomas ;

Brennan, Sean ;

Brian, Jessica ;

Bryson, Susan E. ;

Carson, Andrew R. ;

Casallo, Guillermo ;

Casey, Jillian ;

Chung, Brian H. Y. ;

Cochrane, Lynne ;

Corsello, Christina ;

Crawford, Emily L. ;

Crossett, Andrew ;

Cytrynbaum, Cheryl ;

Dawson, Geraldine ;

de Jonge, Maretha ;

Delorme, Richard ;

Drmic, Irene ;

Duketis, Eftichia ;

Duque, Frederico ;

Estes, Annette ;

Farrar, Penny ;

Fernandez, Bridget A. ;

Folstein, Susan E. ;

Fombonne, Eric ;

Freitag, Christine M. ;

Gilbert, John ;

Gillberg, Christopher ;

Glessner, Joseph T. ;

Goldberg, Jeremy ;

Green, Andrew .

NATURE, 2010, 466 (7304) :368-372

[9] Biological, clinical and population relevance of 95 loci for blood lipids [J].

Teslovich, Tanya M. ;

Musunuru, Kiran ;

Smith, Albert V. ;

Edmondson, Andrew C. ;

Stylianou, Ioannis M. ;

Koseki, Masahiro ;

Pirruccello, James P. ;

Ripatti, Samuli ;

Chasman, Daniel I. ;

Willer, Cristen J. ;

Johansen, Christopher T. ;

Fouchier, Sigrid W. ;

Isaacs, Aaron ;

Peloso, Gina M. ;

Barbalic, Maja ;

Ricketts, Sally L. ;

Bis, Joshua C. ;

Aulchenko, Yurii S. ;

Thorleifsson, Gudmar ;

Feitosa, Mary F. ;

Chambers, John ;

Orho-Melander, Marju ;

Melander, Olle ;

Johnson, Toby ;

Li, Xiaohui ;

Guo, Xiuqing ;

Li, Mingyao ;

Cho, Yoon Shin ;

Go, Min Jin ;

Kim, Young Jin ;

Lee, Jong-Young ;

Park, Taesung ;

Kim, Kyunga ;

Sim, Xueling ;

Ong, Rick Twee-Hee ;

Croteau-Chonka, Damien C. ;

Lange, Leslie A. ;

Smith, Joshua D. ;

Song, Kijoung ;

Zhao, Jing Hua ;

Yuan, Xin ;

Luan, Jian'an ;

Lamina, Claudia ;

Ziegler, Andreas ;

Zhang, Weihua ;

Zee, Robert Y. L. ;

Wright, Alan F. ;

Witteman, Jacqueline C. M. ;

Wilson, James F. ;

Willemsen, Gonneke .

NATURE, 2010, 466 (7307) :707-713

[10] Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma [J].

Thorleifsson, Gudmar ;

Walters, G. Bragi ;

Hewitt, Alex W. ;

Masson, Gisli ;

Helgason, Agnar ;

DeWan, Andrew ;

Sigurdsson, Asgeir ;

Jonasdottir, Adalbjorg ;

Gudjonsson, Sigurjon A. ;

Magnusson, Kristinn P. ;

Stefansson, Hreinn ;

Lam, Dennis S. C. ;

Tam, Pancy O. S. ;

Gudmundsdottir, Gudrun J. ;

Southgate, Laura ;

Burdon, Kathryn P. ;

Gottfredsdottir, Maria Soffia ;

Aldred, Micheala A. ;

Mitchell, Paul ;

St Clair, David ;

Collier, David A. ;

Tang, Nelson ;

Sveinsson, Orn ;

Macgregor, Stuart ;

Martin, Nicholas G. ;

Cree, Angela J. ;

Gibson, Jane ;

MacLeod, Alex ;

Jacob, Aby ;

Ennis, Sarah ;

Young, Terri L. ;

Chan, Juliana C. N. ;

Karwatowski, Wojciech S. S. ;

Hammond, Christopher J. ;

Thordarson, Kristjan ;

Zhang, Mingzhi ;

Wadelius, Claes ;

Lotery, Andrew J. ;

Trembath, Richard C. ;

Pang, Chi Pui ;

Hoh, Josephine ;

Craig, Jamie E. ;

Kong, Augustine ;

Mackey, David A. ;

Jonasson, Fridbert ;

Thorsteinsdottir, Unnur ;

Stefansson, Kari .

NATURE GENETICS, 2010, 42 (10) :906-+

← 1 →

共 10 条

[1] Integrating common and rare genetic variation in diverse human populations [J].

Altshuler, David M. ;

Gibbs, Richard A. ;

Peltonen, Leena ;

Dermitzakis, Emmanouil ;

Schaffner, Stephen F. ;

Yu, Fuli ;

Bonnen, Penelope E. ;

de Bakker, Paul I. W. ;

Deloukas, Panos ;

Gabriel, Stacey B. ;

Gwilliam, Rhian ;

Hunt, Sarah ;

Inouye, Michael ;

Jia, Xiaoming ;

Palotie, Aarno ;

Parkin, Melissa ;

Whittaker, Pamela ;

Chang, Kyle ;

Hawes, Alicia ;

Lewis, Lora R. ;

Ren, Yanru ;

Wheeler, David ;

Muzny, Donna Marie ;

Barnes, Chris ;

Darvishi, Katayoon ;

Hurles, Matthew ;

Korn, Joshua M. ;

Kristiansson, Kati ;

Lee, Charles ;

McCarroll, Steven A. ;

Nemesh, James ;

Keinan, Alon ;

Montgomery, Stephen B. ;

Pollack, Samuela ;

Price, Alkes L. ;

Soranzo, Nicole ;

Gonzaga-Jauregui, Claudia ;

Anttila, Verneri ;

Brodeur, Wendy ;

Daly, Mark J. ;

Leslie, Stephen ;

McVean, Gil ;

Moutsianas, Loukas ;

Nguyen, Huy ;

Zhang, Qingrun ;

Ghori, Mohammed J. R. ;

McGinnis, Ralph ;

McLaren, William ;

Takeuchi, Fumihiko ;

Grossman, Sharon R. .

NATURE, 2010, 467 (7311) :52-58

[2] Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13 [J].

Burkhardt, Ralph ;

Kenny, Eimear E. ;

Lowe, Jennifer K. ;

Birkeland, Andrew ;

Josowitz, Rebecca ;

Noel, Martha ;

Salit, Jacqueline ;

Maller, Julian B. ;

Pe'er, Itsik ;

Daly, Mark J. ;

Altshuler, David ;

Stoffel, Markus ;

Friedman, Jeffrey M. ;

Breslow, Jan L. .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2008, 28 (11) :2078-U332

[3] Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls [J].

Craddock, Nick ;

Hurles, Matthew E. ;

Cardin, Niall ;

Pearson, Richard D. ;

Plagnol, Vincent ;

Robson, Samuel ;

Vukcevic, Damjan ;

Barnes, Chris ;

Conrad, Donald F. ;

Giannoulatou, Eleni ;

Holmes, Chris ;

Marchini, Jonathan L. ;

Stirrups, Kathy ;

Tobin, Martin D. ;

Wain, Louise V. ;

Yau, Chris ;

Aerts, Jan ;

Ahmad, Tariq ;

Andrews, T. Daniel ;

Arbury, Hazel ;

Attwood, Anthony ;

Auton, Adam ;

Ball, Stephen G. ;

Balmforth, Anthony J. ;

Barrett, Jeffrey C. ;

Barroso, Ines ;

Barton, Anne ;

Bennett, Amanda J. ;

Bhaskar, Sanjeev ;

Blaszczyk, Katarzyna ;

Bowes, John ;

Brand, Oliver J. ;

Braund, Peter S. ;

Bredin, Francesca ;

Breen, Gerome ;

Brown, Morris J. ;

Bruce, Ian N. ;

Bull, Jaswinder ;

Burren, Oliver S. ;

Burton, John ;

Byrnes, Jake ;

Caesar, Sian ;

Clee, Chris M. ;

Coffey, Alison J. ;

Connell, John M. C. ;

Cooper, Jason D. ;

Dominiczak, Anna F. ;

Downes, Kate ;

Drummond, Hazel E. ;

Dudakia, Darshna .

NATURE, 2010, 464 (7289) :713-U86

[4] Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia [J].

Johansen, Christopher T. ;

Wang, Jian ;

Lanktree, Matthew B. ;

Cao, Henian ;

McIntyre, Adam D. ;

Ban, Matthew R. ;

Martins, Rebecca A. ;

Kennedy, Brooke A. ;

Hassell, Reina G. ;

Visser, Maartje E. ;

Schwartz, Stephen M. ;

Voight, Benjamin F. ;

Elosua, Roberto ;

Salomaa, Veikko ;

O'Donnell, Christopher J. ;

Dallinga-Thie, Geesje M. ;

Anand, Sonia S. ;

Yusuf, Salim ;

Huff, Murray W. ;

Kathiresan, Sekar ;

Hegele, Robert A. .

NATURE GENETICS, 2010, 42 (08) :684-+

[5] Exome sequencing identifies the cause of a mendelian disorder [J].

Ng, Sarah B. ;

Buckingham, Kati J. ;

Lee, Choli ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Dent, Karin M. ;

Huff, Chad D. ;

Shannon, Paul T. ;

Jabs, Ethylin Wang ;

Nickerson, Deborah A. ;

Shendure, Jay ;

Bamshad, Michael J. .

NATURE GENETICS, 2010, 42 (01) :30-U41

[6] Towards a comprehensive structural variation map of an individual human genome [J].

Pang, Andy W. ;

MacDonald, Jeffrey R. ;

Pinto, Dalila ;

Wei, John ;

Rafiq, Muhammad A. ;

Conrad, Donald F. ;

Park, Hansoo ;

Hurles, Matthew E. ;

Lee, Charles ;

Venter, J. Craig ;

Kirkness, Ewen F. ;

Levy, Samuel ;

Feuk, Lars ;

Scherer, Stephen W. .

GENOME BIOLOGY, 2010, 11 (05)

[7] Estimation of effect size distribution from genome-wide association studies and implications for future discoveries [J].

Park, Ju-Hyun ;

Wacholder, Sholom ;

Gail, Mitchell H. ;

Peters, Ulrike ;

Jacobs, Kevin B. ;

Chanock, Stephen J. ;

Chatterjee, Nilanjan .

NATURE GENETICS, 2010, 42 (07) :570-U139

[8] Functional impact of global rare copy number variation in autism spectrum disorders [J].

Pinto, Dalila ;

Pagnamenta, Alistair T. ;

Klei, Lambertus ;

Anney, Richard ;

Merico, Daniele ;

Regan, Regina ;

Conroy, Judith ;

Magalhaes, Tiago R. ;

Correia, Catarina ;

Abrahams, Brett S. ;

Almeida, Joana ;

Bacchelli, Elena ;

Bader, Gary D. ;

Bailey, Anthony J. ;

Baird, Gillian ;

Battaglia, Agatino ;

Berney, Tom ;

Bolshakova, Nadia ;

Boelte, Sven ;

Bolton, Patrick F. ;

Bourgeron, Thomas ;

Brennan, Sean ;

Brian, Jessica ;

Bryson, Susan E. ;

Carson, Andrew R. ;

Casallo, Guillermo ;

Casey, Jillian ;

Chung, Brian H. Y. ;

Cochrane, Lynne ;

Corsello, Christina ;

Crawford, Emily L. ;

Crossett, Andrew ;

Cytrynbaum, Cheryl ;

Dawson, Geraldine ;

de Jonge, Maretha ;

Delorme, Richard ;

Drmic, Irene ;

Duketis, Eftichia ;

Duque, Frederico ;

Estes, Annette ;

Farrar, Penny ;

Fernandez, Bridget A. ;

Folstein, Susan E. ;

Fombonne, Eric ;

Freitag, Christine M. ;

Gilbert, John ;

Gillberg, Christopher ;

Glessner, Joseph T. ;

Goldberg, Jeremy ;

Green, Andrew .

NATURE, 2010, 466 (7304) :368-372

[9] Biological, clinical and population relevance of 95 loci for blood lipids [J].

Teslovich, Tanya M. ;

Musunuru, Kiran ;

Smith, Albert V. ;

Edmondson, Andrew C. ;

Stylianou, Ioannis M. ;

Koseki, Masahiro ;

Pirruccello, James P. ;

Ripatti, Samuli ;

Chasman, Daniel I. ;

Willer, Cristen J. ;

Johansen, Christopher T. ;

Fouchier, Sigrid W. ;

Isaacs, Aaron ;

Peloso, Gina M. ;

Barbalic, Maja ;

Ricketts, Sally L. ;

Bis, Joshua C. ;

Aulchenko, Yurii S. ;

Thorleifsson, Gudmar ;

Feitosa, Mary F. ;

Chambers, John ;

Orho-Melander, Marju ;

Melander, Olle ;

Johnson, Toby ;

Li, Xiaohui ;

Guo, Xiuqing ;

Li, Mingyao ;

Cho, Yoon Shin ;

Go, Min Jin ;

Kim, Young Jin ;

Lee, Jong-Young ;

Park, Taesung ;

Kim, Kyunga ;

Sim, Xueling ;

Ong, Rick Twee-Hee ;

Croteau-Chonka, Damien C. ;

Lange, Leslie A. ;

Smith, Joshua D. ;

Song, Kijoung ;

Zhao, Jing Hua ;

Yuan, Xin ;

Luan, Jian'an ;

Lamina, Claudia ;

Ziegler, Andreas ;

Zhang, Weihua ;

Zee, Robert Y. L. ;

Wright, Alan F. ;

Witteman, Jacqueline C. M. ;

Wilson, James F. ;

Willemsen, Gonneke .

NATURE, 2010, 466 (7307) :707-713

[10] Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma [J].

Thorleifsson, Gudmar ;

Walters, G. Bragi ;

Hewitt, Alex W. ;

Masson, Gisli ;

Helgason, Agnar ;

DeWan, Andrew ;

Sigurdsson, Asgeir ;

Jonasdottir, Adalbjorg ;

Gudjonsson, Sigurjon A. ;

Magnusson, Kristinn P. ;

Stefansson, Hreinn ;

Lam, Dennis S. C. ;

Tam, Pancy O. S. ;

Gudmundsdottir, Gudrun J. ;

Southgate, Laura ;

Burdon, Kathryn P. ;

Gottfredsdottir, Maria Soffia ;

Aldred, Micheala A. ;

Mitchell, Paul ;

St Clair, David ;

Collier, David A. ;

Tang, Nelson ;

Sveinsson, Orn ;

Macgregor, Stuart ;

Martin, Nicholas G. ;

Cree, Angela J. ;

Gibson, Jane ;

MacLeod, Alex ;

Jacob, Aby ;

Ennis, Sarah ;

Young, Terri L. ;

Chan, Juliana C. N. ;

Karwatowski, Wojciech S. S. ;

Hammond, Christopher J. ;

Thordarson, Kristjan ;

Zhang, Mingzhi ;

Wadelius, Claes ;

Lotery, Andrew J. ;

Trembath, Richard C. ;

Pang, Chi Pui ;

Hoh, Josephine ;

Craig, Jamie E. ;

Kong, Augustine ;

Mackey, David A. ;

Jonasson, Fridbert ;

Thorsteinsdottir, Unnur ;

Stefansson, Kari .

NATURE GENETICS, 2010, 42 (10) :906-+

← 1 →