Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility

被引：75

作者：

Ye, Byong Duk ^{[1
,2
,3
]}

McGovern, Dermot P. B. ^{[3
]}

机构：

[1] Univ Ulsan, Coll Med, Asan Med Ctr, Dept Gastroenterol, Seoul, South Korea

[2] Univ Ulsan, Coll Med, Asan Med Ctr, Ctr Inflammatory Bowel Dis, Seoul, South Korea

[3] F Widjaja Fdn, Cedars Sinai Med Ctr, Inflammatory Bowel & Immunobiol Res Inst, Med Genet Res Inst, Los Angeles, CA 90048 USA

来源：

EXPERT REVIEW OF CLINICAL IMMUNOLOGY | 2016年 / 12卷 / 10期

基金：

美国国家卫生研究院;

关键词：

Inflammatory bowel disease; Crohn's disease; ulcerative colitis; disease susceptibility; heritability; genetics; sequencing; genome-wide association study; pharmacogenetics; GENOME-WIDE ASSOCIATION; INFLAMMATORY-BOWEL-DISEASE; ADDITIONAL SUSCEPTIBILITY LOCI; COLITIS-RISK LOCI; CROHNS-DISEASE; ULCERATIVE-COLITIS; JAPANESE PATIENTS; NOD2; VARIANTS; CONFER SUSCEPTIBILITY; TNFSF15; POLYMORPHISMS;

D O I：

10.1080/1744666X.2016.1184972

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Epidemiological and clinical studies have suggested that the pathogenesis of inflammatory bowel disease (IBD) is strongly influenced by genetic predisposition. Beyond the limitations of linkage analysis, multiple genome-wide association studies, their meta-analyses, and targeted genotyping array techniques have broadened our understanding of the genetic architecture of IBD. Currently, over 200 single nucleotide polymorphisms are known to be associated with susceptibility to IBD and through functional analysis of genes and loci, a substantial proportion of pathophysiologic mechanisms have been revealed. However, because only a modest fraction of predicted heritability can be explained by known genes/loci, additional strategies are needed including the identification of rare variants with large effect sizes to help explain the missing heritability. Considerable progress is also being made on applying outcomes of genetic research in diagnostics, classification, prognostics, and the development of new therapeutics of IBD.

引用

页码：1091 / 1107

页数：17

共 167 条

[1]

The Prognostic Power of the NOD2 Genotype for Complicated Crohn's Disease: A Meta-Analysis [J].

Adler, Jeremy ;

Rangwalla, Sujal C. ;

Dwamena, Ben A. ;

Higgins, Peter D. R. .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2011, 106 (04) :699-712

[2]

The molecular classification of the clinical manifestations of Crohn's disease [J].

Ahmad, T ;

Armuzzi, A ;

Bunce, M ;

Mulcahy-Hawes, K ;

Marshall, SE ;

Orchard, TR ;

Crawshaw, J ;

Large, O ;

De Silva, A ;

Cook, JT ;

Barnardo, M ;

Cullen, S ;

Welsh, KI ;

Jewell, DP .

GASTROENTEROLOGY, 2002, 122 (04) :854-866

[3]

A haplotype map of the human genome [J].

Altshuler, D ;

Brooks, LD ;

Chakravarti, A ;

Collins, FS ;

Daly, MJ ;

Donnelly, P ;

Gibbs, RA ;

Belmont, JW ;

Boudreau, A ;

Leal, SM ;

Hardenbol, P ;

Pasternak, S ;

Wheeler, DA ;

Willis, TD ;

Yu, FL ;

Yang, HM ;

Zeng, CQ ;

Gao, Y ;

Hu, HR ;

Hu, WT ;

Li, CH ;

Lin, W ;

Liu, SQ ;

Pan, H ;

Tang, XL ;

Wang, J ;

Wang, W ;

Yu, J ;

Zhang, B ;

Zhang, QR ;

Zhao, HB ;

Zhao, H ;

Zhou, J ;

Gabriel, SB ;

Barry, R ;

Blumenstiel, B ;

Camargo, A ;

Defelice, M ;

Faggart, M ;

Goyette, M ;

Gupta, S ;

Moore, J ;

Nguyen, H ;

Onofrio, RC ;

Parkin, M ;

Roy, J ;

Stahl, E ;

Winchester, E ;

Ziaugra, L ;

Shen, Y .

NATURE, 2005, 437 (7063) :1299-1320

[4]

Autophagy Gene ATG16L1 But Not IRGM Is Associated with Crohn's Disease in Canadian Children [J].

Amre, Devendra K. ;

Mack, David R. ;

Morgan, Kenneth ;

Krupoves, Alfreda ;

Costea, Irina ;

Lambrette, Philippe ;

Grimard, Guy ;

Dong, Jinsong ;

Feguery, Houda ;

Bucionis, Vytautas ;

Deslandres, Colette ;

Levy, Emile ;

Seidman, Ernest G. .

INFLAMMATORY BOWEL DISEASES, 2009, 15 (04) :501-507

[5]

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 [J].

Anderson, Carl A. ;

Boucher, Gabrielle ;

Lees, Charlie W. ;

Franke, Andre ;

D'Amato, Mauro ;

Taylor, Kent D. ;

Lee, James C. ;

Goyette, Philippe ;

Imielinski, Marcin ;

Latiano, Anna ;

Lagace, Caroline ;

Scott, Regan ;

Amininejad, Leila ;

Bumpstead, Suzannah ;

Baidoo, Leonard ;

Baldassano, Robert N. ;

Barclay, Murray ;

Bayless, Theodore M. ;

Brand, Stephan ;

Buening, Carsten ;

Colombel, Jean-Frederic ;

Denson, Lee A. ;

De Vos, Martine ;

Dubinsky, Marla ;

Edwards, Cathryn ;

Ellinghaus, David ;

Fehrmann, Rudolf S. N. ;

Floyd, James A. B. ;

Florin, Timothy ;

Franchimont, Denis ;

Franke, Lude ;

Georges, Michel ;

Glas, Juergen ;

Glazer, Nicole L. ;

Guthery, Stephen L. ;

Haritunians, Talin ;

Hayward, Nicholas K. ;

Hugot, Jean-Pierre ;

Jobin, Gilles ;

Laukens, Debby ;

Lawrance, Ian ;

Lemann, Marc ;

Levine, Arie ;

Libioulle, Cecile ;

Louis, Edouard ;

McGovern, Dermot P. ;

Milla, Monica ;

Montgomery, Grant W. ;

Morley, Katherine I. ;

Mowat, Craig .

NATURE GENETICS, 2011, 43 (03) :246-U94

[6]

Mucosal gene signatures to predict response to infliximab in patients with ulcerative colitis [J].

Arijs, I. ;

Li, K. ;

Toedter, G. ;

Quintens, R. ;

Van Lommel, L. ;

Van Steen, K. ;

Leemans, P. ;

De Hertogh, G. ;

Lemaire, K. ;

Ferrante, M. ;

Schnitzler, F. ;

Thorrez, L. ;

Ma, K. ;

Song, X. -Y R. ;

Marano, C. ;

Van Assche, G. ;

Vermeire, S. ;

Geboes, K. ;

Schuit, F. ;

Baribaud, F. ;

Rutgeerts, P. .

GUT, 2009, 58 (12) :1612-1619

[7]

Predictive Value of Epithelial Gene Expression Profiles for Response to Infliximab in Crohn's Disease [J].

Arijs, Ingrid ;

Quintens, Roel ;

Van Lommel, Leentje ;

Van Steen, Kristel ;

De Hertogh, Gert ;

Lemaire, Katleen ;

Schraenen, Anica ;

Perrier, Clementine ;

Van Assche, Gert ;

Vermeire, Severine ;

Geboes, Karel ;

Schuit, Frans ;

Rutgeerts, Paul .

INFLAMMATORY BOWEL DISEASES, 2010, 16 (12) :2090-2098

[8]

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? [J].

Arnott, IDR ;

Nimmo, ER ;

Drummond, HE ;

Fennell, J ;

Smith, BRK ;

MacKinlay, E ;

Morecroft, J ;

Anderson, N ;

Kelleher, D ;

O'Sullivan, M ;

McManus, R ;

Satsangi, J .

GENES AND IMMUNITY, 2004, 5 (05) :417-425

[9]

Asada, Ayumi ;

Nishida, Atsushi ;

Shioya, Makoto ;

Imaeda, Hirotsugu ;

Inatomi, Osamu ;

Bamba, Shigeki ;

Kito, Katsuyuki ;

Sugimoto, Mitsushige ;

Andoh, Akira .

JOURNAL OF GASTROENTEROLOGY, 2016, 51 (01) :22-29

[10]

A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population [J].

Asano, Kouichi ;

Matsushita, Tomonaga ;

Umeno, Junji ;

Hosono, Naoya ;

Takahashi, Atsushi ;

Kawaguchi, Takahisa ;

Matsumoto, Takayuki ;

Matsui, Toshiyuki ;

Kakuta, Yoichi ;

Kinouchi, Yoshitaka ;

Shimosegawa, Tooru ;

Hosokawa, Masayo ;

Arimura, Yoshiaki ;

Shinomura, Yasuhisa ;

Kiyohara, Yutaka ;

Tsunoda, Tatsuhiko ;

Kamatani, Naoyuki ;

Iida, Mitsuo ;

Nakamura, Yusuke ;

Kubo, Michiaki .

NATURE GENETICS, 2009, 41 (12) :1325-U92

← 1 2 3 4 5 6 7 8 9 10 →