A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn's disease

被引：17

作者：

Buening, Carsten ^{[1
]}

Durmus, Tahir ^{[6
]}

Molnar, Tamas ^{[3
]}

de Jong, Dirk J. ^{[4
]}

Drenth, Joost P. H. ^{[4
]}

Fiedler, Thomas ^{[1
]}

Gentz, Enno ^{[1
]}

Todorov, Theodor ^{[1
]}

Haas, Verena ^{[1
]}

Buhner, Sabine ^{[5
]}

Sturm, Andreas ^{[6
]}

Baumgart, Daniel C. ^{[6
]}

Nagy, Ferenc ^{[3
]}

Lonovics, Janos ^{[3
]}

Landt, Olfert ^{[7
]}

Kage, Andreas ^{[8
]}

Buening, Herbert ^{[9
]}

Nickel, Renate ^{[10
]}

Buettner, Janine ^{[1
]}

Lochs, Herbert ^{[1
]}

Schmidt, Hartmut H. -J. ^{[2
]}

Witt, Heiko ^{[6
]}

机构：

[1] Univ Med Berlin, Charite, Dept Gastroenterol Hepatol & Endocrinol, D-10117 Berlin, Germany

[2] Univ Klinikum Munster, Munster, Germany

[3] Univ Szeged, Fac Med, Dept Med 1, Szeged, Hungary

[4] Radboud Univ Nijmegen, Med Ctr, Dept Med, Div Gastroenterol & Hepatol, Nijmegen, Netherlands

[5] Tech Univ Munich, Dept Human Biol, Munich, Germany

[6] Univ Med Berlin, Charite, Campus Virchow Klinikum, Dept Gastroenterol & Hepatol, D-10117 Berlin, Germany

[7] TIB MOLBIOL, Berlin, Germany

[8] Univ Med Berlin, Charite, Campus Virchow Klinikum, Inst Lab Med, D-10117 Berlin, Germany

[9] Free Univ Berlin, Inst Stat & Econometr, D-1000 Berlin, Germany

[10] Univ Med Berlin, Charite, Dept Pediat Pneumonol & Immunol, D-10117 Berlin, Germany

来源：

JOURNAL OF CROHNS & COLITIS | 2007年 / 1卷 / 02期

关键词：

Crohn's disease; Ulcerative colitis; Inflammatory bowel disease; ATG16L1; CARD15;

D O I：

10.1016/j.crohns.2007.08.001

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Background and aims: A recent study reported that a nonsynonymous SNP rs2241880 (c.898A>G, p.Thr300Ala) within ATG16L1 confers susceptibility to Crohn's disease (CD). We analyzed ATG16L1 c.898A>G in three independent European inflammatory bowel disease (IBD) cohorts from Germany, Hungary and the Netherlands. Methods: In total, we included 910 European IBD patients and compared the ATG 16L1c.898A>G genotype frequency with 707 ethnically matched healthy controls. We included patients from 3 populations originating from Germany (CD n=310; ulcerative colitis [UC] n=179), Hungary (CD n=147; UC n=117), and the Netherlands (CD n=157). Subtyping analysis was performed in respect to CARD15 alterations and clinical characteristics. Results: We found a highly significant association of c.898A>G to CD. The association was significant (p=0.0005) for the total CD cohort but also for the individual populations from Germany (p=0.02) and Netherlands (p=0.02) whereas in the Hungarian CD patients a clear trend was observed (p=0.19; OR 1.227, 95% Cl 0.910; 1.654). No association was found between c.898A>G and UC. No statistical interactions were observed between ATG16L1 c.898A>G and CARD15 variants. Furthermore no association to a CD subphenotype was detected. Conclusions: We confirm that ATG16L1 variant c898A>G confers a risk variant for CD but is not associated with a distinct CD phenotype. (C) 2007 European Crohn's and Colitis Organization. Published by Elsevier B.V. All rights reserved.

引用

页码：70 / 76

页数：7

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A study in three European IBD cohorts confirms that the ATG16L1 c.898A&gt;G (p.Thr300Ala) variant is a susceptibility factor for Crohn's disease

A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn's disease