Human genetics contributes to the understanding of disease pathophysiology and drug discovery

被引：6

作者：

Sakaue, Saori ^{[1
,2
]}

Okada, Yukinori ^{[1
]}

机构：

[1] Osaka Univ, Grad Sch Med, Dept Stat Genet, Suita, Osaka 5650871, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Allergy & Rheumatol, Tokyo 1138655, Japan

来源：

JOURNAL OF ORTHOPAEDIC SCIENCE | 2017年 / 22卷 / 06期

关键词：

RHEUMATOID-ARTHRITIS; ASSOCIATION; RISK;

D O I：

10.1016/j.jos.2017.07.009

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

100224 [整形外科学];

摘要：

Background: Today, sequencing technology has markedly reduced the cost and time needed to read the human genome than ever before. Genome-wide association studies have successfully identified a number of disease risk genes. Contribution to understanding of disease pathophysiology: Recent advancements in genomic technology have substantially furthered our understanding of the pathophysiology of many diseases, such as rheumatoid arthritis. Toward drug discovery and future direction: Accumulating genomic information is now expected to accelerate the discovery of novel drugs. Rapidly growing multi-dimensional information in life sciences would make human genetics significantly important in the near future. (C) 2017 The Japanese Orthopaedic Association. Published by Elsevier B.V.

引用

页码：977 / 981

页数：5

共 25 条

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Estrada, Karol ;

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Bastarache, Lisa ;

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Bowes, John ;

Cui, Jing ;

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Pappas, Dimitrios A. ;

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Mariette, Xavier ;

Richard-Miceli, Corrine ;

Canhao, Helena ;

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de Vries, Niek ;

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Zhernakova, Alexandra ;

Klareskog, Lars ;

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Boudreau, Andrew ;

Hardenbol, Paul ;

Leal, Suzanne M. ;

Pasternak, Shiran ;

Wheeler, David A. ;

Willis, Thomas D. ;

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Zeng, Changqing ;

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Han, Buhm ;

Diogo, Dorothee ;

Eyre, Steve ;

Kallberg, Henrik ;

Zhernakova, Alexandra ;

Bowes, John ;

Padyukov, Leonid ;

Okada, Yukinori ;

Gonzalez-Gay, Miguel A. ;

Rantapaa-Dahlqvist, Solbritt ;

Martin, Javier ;

Huizinga, Tom W. J. ;

Plenge, Robert M. ;

Worthington, Jane ;

Gregersen, Peter K. ;

Klareskog, Lars ;

de Bakker, Paul I. W. ;

Raychaudhuri, Soumya .

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← 1 2 3 →

共 25 条

[1]

Hundreds of variants clustered in genomic loci and biological pathways affect human height [J].

Allen, Hana Lango ;

Estrada, Karol ;

Lettre, Guillaume ;

Berndt, Sonja I. ;

Weedon, Michael N. ;

Rivadeneira, Fernando ;

Willer, Cristen J. ;

Jackson, Anne U. ;

Vedantam, Sailaja ;

Raychaudhuri, Soumya ;

Ferreira, Teresa ;

Wood, Andrew R. ;

Weyant, Robert J. ;

Segre, Ayellet V. ;

Speliotes, Elizabeth K. ;

Wheeler, Eleanor ;

Soranzo, Nicole ;

Park, Ju-Hyun ;

Yang, Jian ;

Gudbjartsson, Daniel ;

Heard-Costa, Nancy L. ;

Randall, Joshua C. ;

Qi, Lu ;

Smith, Albert Vernon ;

Maegi, Reedik ;

Pastinen, Tomi ;

Liang, Liming ;

Heid, Iris M. ;

Luan, Jian'an ;

Thorleifsson, Gudmar ;

Winkler, Thomas W. ;

Goddard, Michael E. ;

Lo, Ken Sin ;

Palmer, Cameron ;

Workalemahu, Tsegaselassie ;

Aulchenko, Yurii S. ;

Johansson, Asa ;

Zillikens, M. Carola ;

Feitosa, Mary F. ;

Esko, Tonu ;

Johnson, Toby ;

Ketkar, Shamika ;

Kraft, Peter ;

Mangino, Massimo ;

Prokopenko, Inga ;

Absher, Devin ;

Albrecht, Eva ;

Ernst, Florian ;

Glazer, Nicole L. ;

Hayward, Caroline .

NATURE, 2010, 467 (7317) :832-838

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A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[3]

An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[4]

Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies [J].

Chatterjee, Nilanjan ;

Wheeler, Bill ;

Sampson, Joshua ;

Hartge, Patricia ;

Chanock, Stephen J. ;

Park, Ju-Hyun .

NATURE GENETICS, 2013, 45 (04) :400-405

[5]

Lessons learned from the fate of AstraZeneca's drug pipeline: a five-dimensional framework [J].

Cook, David ;

Brown, Dearg ;

Alexander, Robert ;

March, Ruth ;

Morgan, Paul ;

Satterthwaite, Gemma ;

Pangalos, Menelas N. .

NATURE REVIEWS DRUG DISCOVERY, 2014, 13 (06) :419-431

[6]

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data [J].

Denny, Joshua C. ;

Bastarache, Lisa ;

Ritchie, Marylyn D. ;

Carroll, Robert J. ;

Zink, Raquel ;

Mosley, Jonathan D. ;

Field, Julie R. ;

Pulley, Jill M. ;

Ramirez, Andrea H. ;

Bowton, Erica ;

Basford, Melissa A. ;

Carrell, David S. ;

Peissig, Peggy L. ;

Kho, Abel N. ;

Pacheco, Jennifer A. ;

Rasmussen, Luke V. ;

Crosslin, David R. ;

Crane, Paul K. ;

Pathak, Jyotishman ;

Bielinski, Suzette J. ;

Pendergrass, Sarah A. ;

Xu, Hua ;

Hindorff, Lucia A. ;

Li, Rongling ;

Manolio, Teri A. ;

Chute, Christopher G. ;

Chisholm, Rex L. ;

Larson, Eric B. ;

Jarvik, Gail P. ;

Brilliant, Murray H. ;

McCarty, Catherine A. ;

Kullo, Iftikhar J. ;

Haines, Jonathan L. ;

Crawford, Dana C. ;

Masys, Daniel R. ;

Roden, Dan M. .

NATURE BIOTECHNOLOGY, 2013, 31 (12) :1102-+

[7]

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations [J].

Denny, Joshua C. ;

Ritchie, Marylyn D. ;

Basford, Melissa A. ;

Pulley, Jill M. ;

Bastarache, Lisa ;

Brown-Gentry, Kristin ;

Wang, Deede ;

Masys, Dan R. ;

Roden, Dan M. ;

Crawford, Dana C. .

BIOINFORMATICS, 2010, 26 (09) :1205-1210

[8]

TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits [J].

Diogo, Dorothee ;

Bastarache, Lisa ;

Liao, Katherine P. ;

Graham, Robert R. ;

Fulton, Robert S. ;

Greenberg, Jeffrey D. ;

Eyre, Steve ;

Bowes, John ;

Cui, Jing ;

Lee, Annette ;

Pappas, Dimitrios A. ;

Kremer, Joel M. ;

Barton, Anne ;

Coenen, Marieke J. H. ;

Franke, Barbara ;

Kiemeney, Lambertus A. ;

Mariette, Xavier ;

Richard-Miceli, Corrine ;

Canhao, Helena ;

Fonseca, Joao E. ;

de Vries, Niek ;

Tak, Paul P. ;

Crusius, J. Bart A. ;

Nurmohamed, Michael T. ;

Kurreeman, Fina ;

Mikuls, Ted R. ;

Okada, Yukinori ;

Stahl, Eli A. ;

Larson, David E. ;

Deluca, Tracie L. ;

O'Laughlin, Michelle ;

Fronick, Catrina C. ;

Fulton, Lucinda L. ;

Kosoy, Roman ;

Ransom, Michael ;

Bhangale, Tushar R. ;

Ortmann, Ward ;

Cagan, Andrew ;

Gainer, Vivian ;

Karlson, Elizabeth W. ;

Kohane, Isaac ;

Murphy, Shawn N. ;

Martin, Javier ;

Zhernakova, Alexandra ;

Klareskog, Lars ;

Padyukov, Leonid ;

Worthington, Jane ;

Mardis, Elaine R. ;

Seldin, Michael F. ;

Gregersen, Peter K. .

PLOS ONE, 2015, 10 (04)

[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]

Fine Mapping Seronegative and Seropositive Rheumatoid Arthritis to Shared and Distinct HLA Alleles by Adjusting for the Effects of Heterogeneity [J].

Han, Buhm ;

Diogo, Dorothee ;

Eyre, Steve ;

Kallberg, Henrik ;

Zhernakova, Alexandra ;

Bowes, John ;

Padyukov, Leonid ;

Okada, Yukinori ;

Gonzalez-Gay, Miguel A. ;

Rantapaa-Dahlqvist, Solbritt ;

Martin, Javier ;

Huizinga, Tom W. J. ;

Plenge, Robert M. ;

Worthington, Jane ;

Gregersen, Peter K. ;

Klareskog, Lars ;

de Bakker, Paul I. W. ;

Raychaudhuri, Soumya .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (04) :522-532

← 1 2 3 →