Genetic characteristics of inflammatory bowel disease in a Japanese population

被引：40

作者：

Fuyuno, Yuta ^{[1
,2
]}

Yamazaki, Keiko ^{[1
]}

Takahashi, Atsushi ^{[3
]}

Esaki, Motohiro ^{[2
]}

Kawaguchi, Takaaki ^{[4
]}

Takazoe, Masakazu ^{[4
]}

Matsumoto, Takayuki ^{[2
]}

Matsui, Toshiyuki ^{[5
]}

Tanaka, Hiroki ^{[6
]}

Motoya, Satoshi ^{[6
]}

Suzuki, Yasuo ^{[7
]}

Kiyohara, Yutaka ^{[8
]}

Kitazono, Takanari ^{[4
]}

Kubo, Michiaki ^{[9
]}

机构：

[1] RIKEN Yokohama Inst, Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa, Japan

[2] Kyushu Univ, Grad Sch Med Sci, Dept Med & Clin Sci, Fukuoka, Japan

[3] RIKEN, Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa, Japan

[4] Tokyo Yamate Med Ctr, Div Gastroenterol, Dept Med, Tokyo, Japan

[5] Fukuoka Univ, Dept Gastroenterol, Chikushi Hosp, Fukuoka, Japan

[6] Sapporo Kosei Gen Hosp, Dept Gastroenterol, Sapporo, Hokkaido, Japan

[7] Toho Univ, Dept Internal Med, Fac Med, Chiba, Japan

[8] Kyushu Univ, Grad Sch Med Sci, Dept Environm Med, Fukuoka, Japan

[9] RIKEN Yokohama Inst, Ctr Integrat Med Sci, 1-7-22 Suehiro Cho, Yokohama, Kanagawa 2300045, Japan

来源：

JOURNAL OF GASTROENTEROLOGY | 2016年 / 51卷 / 07期

关键词：

Crohn's disease; Ulcerative colitis; Genome-wide association study; Inflammatory bowel disease; Ethnic difference; GENOME-WIDE ASSOCIATION; COLITIS-RISK LOCI; ULCERATIVE-COLITIS; CROHNS-DISEASE; SUSCEPTIBILITY LOCI; SEQUENCE VARIANTS; LINKAGE; VISUALIZATION; CONTRIBUTE; INCREASES;

D O I：

10.1007/s00535-015-1135-3

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Crohn's disease (CD) and ulcerative colitis (UC) are two major forms of inflammatory bowel disease (IBD). Meta-analyses of genome-wide association studies (GWAS) have identified 163 susceptibility loci for IBD among European populations; however, there is limited information for IBD susceptibility in a Japanese population. We performed a GWAS using imputed genotypes of 743 IBD patients (372 with CD and 371 with UC) and 3321 controls. Using 100 tag single-nucleotide polymorphisms (SNPs) (P < 5 x 10(-5)), a replication study was conducted with an independent set of 1310 IBD patients (949 with CD and 361 with UC) and 4163 controls. In addition, 163 SNPs identified by a European IBD GWAS were genotyped, and genetic backgrounds were compared between the Japanese and European populations. In the IBD GWAS, two East Asia-specific IBD susceptibility loci were identified in the Japanese population: ATG16L2-FCHSD2 and SLC25A15-ELF1-WBP4. Among 163 reported SNPs in European IBD patients, significant associations were confirmed in 18 (8 CD-specific, 4 UC-specific, and 6 IBD-shared). In Japanese CD patients, genes in the Th17-IL23 pathway showed stronger genetic effects, whereas the association of genes in the autophagy pathway was limited. The association of genes in the epithelial barrier and the Th17-IL23R pathways were similar in the Japanese and European UC populations. We confirmed two IBD susceptibility loci as common for CD and UC, and East Asian-specific. The genetic architecture in UC appeared to be similar between Europeans and East Asians, but may have some differences in CD.

引用

页码：672 / 681

页数：10

共 39 条

[1] 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

[2] 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

[3] Characteristics of Japanese inflammatory bowel disease susceptibility loci [J].

Arimura, Yoshiaki ;

Isshiki, Hiroyuki ;

Onodera, Kei ;

Nagaishi, Kanna ;

Yamashita, Kentaro ;

Sonoda, Tomoko ;

Matsumoto, Takayuki ;

Takahashi, Atsushi ;

Takazoe, Masakazu ;

Yamazaki, Keiko ;

Kubo, Michiaki ;

Fujimiya, Mineko ;

Imai, Kohzoh ;

Shinomura, Yasuhisa .

JOURNAL OF GASTROENTEROLOGY, 2014, 49 (08) :1217-1230

[4] Prevalence of ulcerative colitis and Crohn's disease in Japan [J].

Asakura, Keiko ;

Nishiwaki, Yuji ;

Inoue, Nagamu ;

Hibi, Toshifumi ;

Watanabe, Mamoru ;

Takebayashi, Toru .

JOURNAL OF GASTROENTEROLOGY, 2009, 44 (07) :659-665

[5] 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

[6] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[7] Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region [J].

Barrett, Jeffrey C. ;

Lee, James C. ;

Lees, Charles W. ;

Prescott, Natalie J. ;

Anderson, Carl A. ;

Phillips, Anne ;

Wesley, Emma ;

Parnell, Kirstie ;

Zhang, Hu ;

Drummond, Hazel ;

Nimmo, Elaine R. ;

Massey, Dunecan ;

Blaszczyk, Kasia ;

Elliott, Timothy ;

Cotterill, Lynn ;

Dallal, Helen ;

Lobo, Alan J. ;

Mowat, Craig ;

Sanderson, Jeremy D. ;

Jewell, Derek P. ;

Newman, William G. ;

Edwards, Cathryn ;

Ahmad, Tariq ;

Mansfield, John C. ;

Satsangi, Jack ;

Parkes, Miles ;

Mathew, Christopher G. ;

Donnelly, Peter ;

Peltonen, Leena ;

Blackwell, Jenefer M. ;

Bramon, Elvira ;

Brown, Matthew A. ;

Casas, Juan P. ;

Corvin, Aiden ;

Craddock, Nicholas ;

Deloukas, Panos ;

Duncanson, Audrey ;

Jankowski, Janusz ;

Markus, Hugh S. ;

McCarthy, Mark I. ;

Palmer, Colin N. A. ;

Plomin, Robert ;

Rautanen, Anna ;

Sawcer, Stephen J. ;

Samani, Nilesh ;

Trembath, Richard C. ;

Viswanathan, Ananth C. ;

Wood, Nicholas ;

Spencer, Chris C. A. ;

Bellenguez, Celine .

NATURE GENETICS, 2009, 41 (12) :1330-U99

[8] A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC [J].

de Bakker, Paul I. W. ;

McVean, Gil ;

Sabeti, Pardis C. ;

Miretti, Marcos M. ;

Green, Todd ;

Marchini, Jonathan ;

Ke, Xiayi ;

Monsuur, Alienke J. ;

Whittaker, Pamela ;

Delgado, Marcos ;

Morrison, Jonathan ;

Richardson, Angela ;

Walsh, Emily C. ;

Gao, Xiaojiang ;

Galver, Luana ;

Hart, John ;

Hafler, David A. ;

Pericak-Vance, Margaret ;

Todd, John A. ;

Daly, Mark J. ;

Trowsdale, John ;

Wijmenga, Cisca ;

Vyse, Tim J. ;

Beck, Stephan ;

Murray, Sarah Shaw ;

Carrington, Mary ;

Gregory, Simon ;

Deloukas, Panos ;

Rioux, John D. .

NATURE GENETICS, 2006, 38 (10) :1166-1172

[9] Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility [J].

Franke, Andre ;

Balschun, Tobias ;

Karlsen, Tom H. ;

Sventoraityte, Jurgita ;

Nikolaus, Susanna ;

Mayr, Gabriele ;

Domingues, Francisco S. ;

Albrecht, Mario ;

Nothnagel, Michael ;

Ellinghaus, David ;

Sina, Christian ;

Onnie, Clive M. ;

Weersma, Rinse K. ;

Stokkers, Pieter C. F. ;

Wijmenga, Cisca ;

Gazouli, Maria ;

Strachan, David ;

McArdle, Wendy L. ;

Vermeire, Severine ;

Rutgeerts, Paul ;

Rosenstiel, Philip ;

Krawczak, Michael ;

Vatn, Morten H. ;

Mathew, Christopher G. ;

Schreiber, Stefan .

NATURE GENETICS, 2008, 40 (11) :1319-1323

[10] Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci [J].

Franke, Andre ;

McGovern, Dermot P. B. ;

Barrett, Jeffrey C. ;

Wang, Kai ;

Radford-Smith, Graham L. ;

Ahmad, Tariq ;

Lees, Charlie W. ;

Balschun, Tobias ;

Lee, James ;

Roberts, Rebecca ;

Anderson, Carl A. ;

Bis, Joshua C. ;

Bumpstead, Suzanne ;

Ellinghaus, David ;

Festen, Eleonora M. ;

Georges, Michel ;

Green, Todd ;

Haritunians, Talin ;

Jostins, Luke ;

Latiano, Anna ;

Mathew, Christopher G. ;

Montgomery, Grant W. ;

Prescott, Natalie J. ;

Raychaudhuri, Soumya ;

Rotter, Jerome I. ;

Schumm, Philip ;

Sharma, Yashoda ;

Simms, Lisa A. ;

Taylor, Kent D. ;

Whiteman, David ;

Wijmenga, Cisca ;

Baldassano, Robert N. ;

Barclay, Murray ;

Bayless, Theodore M. ;

Brand, Stephan ;

Buening, Carsten ;

Cohen, Albert ;

Colombel, Jean-Frederick ;

Cottone, Mario ;

Stronati, Laura ;

Denson, Ted ;

De Vos, Martine ;

D'Inca, Renata ;

Dubinsky, Marla ;

Edwards, Cathryn ;

Florin, Tim ;

Franchimont, Denis ;

Gearry, Richard ;

Glas, Juergen ;

Van Gossum, Andre .

NATURE GENETICS, 2010, 42 (12) :1118-+

← 1 2 3 4 →