The Utility of Genome-Wide Association Studies in Hepatology

被引：50

作者：

Karlsen, Tom H. ^{[1
]}

Melum, Espen ^{[1
]}

Franke, Andre ^{[1
,2
]}

机构：

[1] Natl Hosp Norway, Norwegian PSC Res Ctr, Dept Med, Oslo Univ Hosp, N-0027 Oslo, Norway

[2] Univ Kiel, Inst Clin Mol Biol, Kiel, Germany

来源：

HEPATOLOGY | 2010年 / 51卷 / 05期

关键词：

INFLAMMATORY-BOWEL-DISEASE; GENETIC-VARIATION; HEPATITIS-C; LINKAGE DISEQUILIBRIUM; COMPLEX DISEASES; BILIRUBIN LEVELS; RISK; TRAITS; LOCI; HLA;

D O I：

10.1002/hep.23564

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Over the last 4 years, more than 450 genome-wide association studies (GWAS) have been successfully performed in a variety of human traits, of which approximately 2% relates to the field of hepatology. Whereas the many robust susceptibility gene findings have provided insight into fundamental physiological aspects of the phenotypes that have been studied, the widespread application has also revealed important limitations of the GWAS design. This review aims to systematically summarize both the strengths and the weaknesses of GWAS, as well as underscore important experiences made in model diseases outside the field of hepatology. By reviewing the GWAS performed in hepatology so far on this broader background, extensions and guidelines for the rational application of the study design in hepatology are proposed. (HEPATOLOGY 2010;51:1833-1842)

引用

页码：1833 / 1842

页数：10

共 47 条

[41] Genome-wide association of IL28B with response to pegylated interferon-α and ribavirin therapy for chronic hepatitis C [J].

Tanaka, Yasuhito ;

Nishida, Nao ;

Sugiyama, Masaya ;

Kurosaki, Masayuki ;

Matsuura, Kentaro ;

Sakamoto, Naoya ;

Nakagawa, Mina ;

Korenaga, Masaaki ;

Hino, Keisuke ;

Hige, Shuhei ;

Ito, Yoshito ;

Mita, Eiji ;

Tanaka, Eiji ;

Mochida, Satoshi ;

Murawaki, Yoshikazu ;

Honda, Masao ;

Sakai, Akito ;

Hiasa, Yoichi ;

Nishiguchi, Shuhei ;

Koike, Asako ;

Sakaida, Isao ;

Imamura, Masatoshi ;

Ito, Kiyoaki ;

Yano, Koji ;

Masaki, Naohiko ;

Sugauchi, Fuminaka ;

Izumi, Namiki ;

Tokunaga, Katsushi ;

Mizokami, Masashi .

NATURE GENETICS, 2009, 41 (10) :1105-U81

[42] Linkage disequilibrium mapping of complex disease: fantasy or reality? [J].

Terwilliger, JD ;

Weiss, KM .

CURRENT OPINION IN BIOTECHNOLOGY, 1998, 9 (06) :578-594

[43] Genetic variation in IL28B and spontaneous clearance of hepatitis C virus [J].

Thomas, David L. ;

Thio, Chloe L. ;

Martin, Maureen P. ;

Qi, Ying ;

Ge, Dongliang ;

O'hUigin, Colm ;

Kidd, Judith ;

Kidd, Kenneth ;

Khakoo, Salim I. ;

Alexander, Graeme ;

Goedert, James J. ;

Kirk, Gregory D. ;

Donfield, Sharyne M. ;

Rosen, Hugo R. ;

Tobler, Leslie H. ;

Busch, Michael P. ;

McHutchison, John G. ;

Goldstein, David B. ;

Carrington, Mary .

NATURE, 2009, 461 (7265) :798-U52

[44] Variant in PNPLA3 is associated with alcoholic liver disease [J].

Tian, Chao ;

Stokowski, Renee P. ;

Kershenobich, David ;

Ballinger, Dennis G. ;

Hinds, David A. .

NATURE GENETICS, 2010, 42 (01) :21-23

[45] From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes [J].

Wei, Zhi ;

Wang, Kai ;

Qu, Hui-Qi ;

Zhang, Haitao ;

Bradfield, Jonathan ;

Kim, Cecilia ;

Frackleton, Edward ;

Hou, Cuiping ;

Glessner, Joseph T. ;

Chiavacci, Rosetta ;

Stanley, Charles ;

Monos, Dimitri ;

Grant, Struan F. A. ;

Polychronakos, Constantin ;

Hakonarson, Hakon .

PLOS GENETICS, 2009, 5 (10)

[46] Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes [J].

Yuan, Xin ;

Waterworth, Dawn ;

Perry, John R. B. ;

Lim, Noha ;

Song, Kijoung ;

Chambers, John C. ;

Zhang, Weihua ;

Vollenweider, Peter ;

Stirnadel, Heide ;

Johnson, Toby ;

Bergmann, Sven ;

Beckmann, Noam D. ;

Li, Yun ;

Ferrucci, Luigi ;

Melzer, David ;

Hernandez, Dena ;

Singleton, Andrew ;

Scott, James ;

Elliott, Paul ;

Waeber, Gerard ;

Cardon, Lon ;

Frayling, Timothy M. ;

Kooner, Jaspal S. ;

Mooser, Vincent .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (04) :520-528

[47] Detecting shared pathogenesis from the shared genetics of immune-related diseases [J].

Zhernakova, Alexandra ;

van Diemen, Cleo C. ;

Wijmenga, Cisca .

NATURE REVIEWS GENETICS, 2009, 10 (01) :43-55

← 1 2 3 4 5 →