Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis

被引：297

作者：

Franke, Andre ^{[1
]}

Balschun, Tobias ^{[1
]}

Karlsen, Tom H. ^{[2
]}

Hedderich, Juergen ^{[3
]}

May, Sandra ^{[1
]}

Lu, Tim ^{[3
]}

Schuldt, Doerthe ^{[1
,4
]}

Nikolaus, Susanna ^{[4
]}

Rosenstiel, Philip ^{[1
]}

Krawczak, Michael ^{[3
]}

Schreiber, Stefan ^{[1
,4
]}

机构：

[1] Univ Kiel, Inst Clin Mol Biol, D-24105 Kiel, Germany

[2] Univ Oslo, Rikshosp, Univ Hosp, Dept Med, N-0027 Oslo, Norway

[3] Univ Kiel, Inst Med Informat & Stat, D-24105 Kiel, Germany

[4] Univ Kiel, Dept Gen Internal Med, Univ Hosp Schleswig Holstein, D-24105 Kiel, Germany

来源：

NATURE GENETICS | 2008年 / 40卷 / 06期

关键词：

D O I：

10.1038/ng.148

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Following up on recent genome-wide association studies (GWAS) of Crohn's disease, we investigated 50 previously reported susceptibility loci in a German sample of individuals with Crohn's disease (n = 1,850) or ulcerative colitis (n = 1,103) and healthy controls (n = 1,817). Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection.

引用

页码：713 / 715

页数：3

共 10 条

[1] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[2] A genome-wide association study identifies IL23R as an inflammatory bowel disease gene [J].

Duerr, Richard H. ;

Taylor, Kent D. ;

Brant, Steven R. ;

Rioux, John D. ;

Silverberg, Mark S. ;

Daly, Mark J. ;

Steinhart, A. Hillary ;

Abraham, Clara ;

Regueiro, Miguel ;

Griffiths, Anne ;

Dassopoulos, Themistocles ;

Bitton, Alain ;

Yang, Huiying ;

Targan, Stephan ;

Datta, Lisa Wu ;

Kistner, Emily O. ;

Schumm, L. Philip ;

Lee, Annette T. ;

Gregersen, Peter K. ;

Barmada, M. Michael ;

Rotter, Jerome I. ;

Nicolae, Dan L. ;

Cho, Judy H. .

SCIENCE, 2006, 314 (5804) :1461-1463

[3] Systematic Association Mapping Identifies NELL1 as a Novel IBD Disease Gene [J].

Franke, Andre ;

Hampe, Jochen ;

Rosenstiel, Philip ;

Becker, Christian ;

Wagner, Florian ;

Haesler, Robert ;

Little, Randall D. ;

Huse, Klaus ;

Ruether, Andreas ;

Balschun, Tobias ;

Wittig, Michael ;

ElSharawy, Abdou ;

Mayr, Gabriele ;

Albrecht, Mario ;

Prescott, Natalie J. ;

Onnie, Clive M. ;

Fournier, Helene ;

Keith, Tim ;

Radelof, Uwe ;

Platzer, Matthias ;

Mathew, Christopher G. ;

Stoll, Monika ;

Krawczak, Michael ;

Nuernberg, Peter ;

Schreiber, Stefan .

PLOS ONE, 2007, 2 (08)

[4] A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 [J].

Hampe, Jochen ;

Franke, Andre ;

Rosenstiel, Philip ;

Till, Andreas ;

Teuber, Markus ;

Huse, Klaus ;

Albrecht, Mario ;

Mayr, Gabriele ;

De La Vega, Francisco M. ;

Briggs, Jason ;

Guenther, Simone ;

Prescott, Natalie J. ;

Onnie, Clive M. ;

Haesler, Robert ;

Sipos, Bence ;

Foelsch, Ulrich R. ;

Lengauer, Thomas ;

Platzer, Matthias ;

Mathew, Christopher G. ;

Krawczak, Michael ;

Schreiber, Stefan .

NATURE GENETICS, 2007, 39 (02) :207-211

[5] Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4 [J].

Libioulle, Cecile ;

Louis, Edouard ;

Hansoul, Sarah ;

Sandor, Cynthia ;

Farnir, Frederic ;

Franchimont, Denis ;

Vermeire, Severine ;

Dewit, Olivier ;

de Vos, Martine ;

Dixon, Anna ;

Demarche, Bruno ;

Gut, Ivo ;

Heath, Simon ;

Foglio, Mario ;

Liang, Liming ;

Laukens, Debby ;

Mni, Myriam ;

Zelenika, Diana ;

Van Gossum, Andre ;

Rutgeerts, Paul ;

Belaiche, Jacques ;

Lathrop, Mark ;

Georges, Michel .

PLOS GENETICS, 2007, 3 (04) :0538-0543

[6] Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility [J].

Parkes, Miles ;

Barrett, Jeffrey C. ;

Prescott, Natalie J. ;

Tremelling, Mark ;

Anderson, Carl A. ;

Fisher, Sheila A. ;

Roberts, Roland G. ;

Nimmo, Elaine R. ;

Cummings, Fraser R. ;

Soars, Dianne ;

Drummond, Hazel ;

Lees, Charlie W. ;

Khawaja, Saud A. ;

Bagnall, Richard ;

Burke, Denis A. ;

Todhunter, Catherine E. ;

Ahmad, Tariq ;

Onnie, Clive M. ;

McArdle, Wendy ;

Strachan, David ;

Bethel, Graeme ;

Bryan, Claire ;

Lewis, Cathryn M. ;

Deloukas, Panos ;

Forbes, Alastair ;

Sanderson, Jeremy ;

Jewell, Derek P. ;

Satsangi, Jack ;

Mansfield, John C. ;

Cardon, Lon ;

Mathew, Christopher G. .

NATURE GENETICS, 2007, 39 (07) :830-832

[7] Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci [J].

Raelson, John V. ;

Little, Randall D. ;

Ruether, Andreas ;

Fournier, Helene ;

Paquin, Bruno ;

Van Eerdewegh, Paul ;

Bradley, W. E. C. ;

Croteau, Pascal ;

Nguyen-Huu, Quynh ;

Segal, Jonathan ;

Debrus, Sophie ;

Allard, Rene ;

Rosenstiel, Philip ;

Franke, Andre ;

Jacobs, Gunnar ;

Nikolaus, Susanna ;

Vidal, Jean-Michel ;

Szego, Peter ;

Laplante, Nathalie ;

Clark, Hilary F. ;

Paulussen, Ren J. ;

Hooper, John W. ;

Keith, Tim P. ;

Belouchi, Abdelmajid ;

Schreiber, Stefan .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (37) :14747-14752

[8] Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis [J].

Rioux, John D. ;

Xavier, Ramnik J. ;

Taylor, Kent D. ;

Silverberg, Mark S. ;

Goyette, Philippe ;

Huett, Alan ;

Green, Todd ;

Kuballa, Petric ;

Barmada, M. Michael ;

Datta, Lisa Wu ;

Shugart, Yin Yao ;

Griffiths, Anne M. ;

Targan, Stephan R. ;

Ippoliti, Andrew F. ;

Bernard, Edmond-Jean ;

Mei, Ling ;

Nicolae, Dan L. ;

Regueiro, Miguel ;

Schumm, L. Philip ;

Steinhart, A. Hillary ;

Rotter, Jerome I. ;

Duerr, Richard H. ;

Cho, Judy H. ;

Daly, Mark J. ;

Brant, Steven R. .

NATURE GENETICS, 2007, 39 (05) :596-604

[9] Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes [J].

Todd, John A. ;

Walker, Neil M. ;

Cooper, Jason D. ;

Smyth, Deborah J. ;

Downes, Kate ;

Plagnol, Vincent ;

Bailey, Rebecca ;

Nejentsev, Sergey ;

Field, Sarah F. ;

Payne, Felicity ;

Lowe, Christopher E. ;

Szeszko, Jeffrey S. ;

Hafler, Jason P. ;

Zeitels, Lauren ;

Yang, Jennie H. M. ;

Vella, Adrian ;

Nutland, Sarah ;

Stevens, Helen E. ;

Schuilenburg, Helen ;

Coleman, Gillian ;

Maisuria, Meeta ;

Meadows, William ;

Smink, Luc J. ;

Healy, Barry ;

Burren, Oliver S. ;

Lam, Alex A. C. ;

Ovington, Nigel R. ;

Allen, James ;

Adlem, Ellen ;

Leung, Hin-Tak ;

Wallace, Chris ;

Howson, Joanna M. M. ;

Guja, Cristian ;

Ionescu-Tirgoviste, Constantin ;

Simmonds, Matthew J. ;

Heward, Joanne M. ;

Gough, Stephen C. L. ;

Dunger, David B. ;

Wicker, Linda S. ;

Clayton, David G. .

NATURE GENETICS, 2007, 39 (07) :857-864

[10] Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease [J].

Yamazaki, K ;

McGovern, D ;

Ragoussis, J ;

Paolucci, M ;

Butler, H ;

Jewell, D ;

Cardon, L ;

Takazoe, M ;

Tanaka, T ;

Ichimori, T ;

Saito, S ;

Sekine, A ;

Iida, A ;

Takahashi, A ;

Tsunoda, T ;

Lathrop, M ;

Nakamura, Y .

HUMAN MOLECULAR GENETICS, 2005, 14 (22) :3499-3506

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