PMID- 30084967
OWN - NLM
STAT- MEDLINE
DCOM- 20190509
LR  - 20221207
IS  - 1460-2083 (Electronic)
IS  - 0964-6906 (Linking)
VI  - 27
IP  - 22
DP  - 2018 Nov 15
TI  - Amino acid position 37 of HLA-DRbeta1 affects susceptibility to Crohn's disease in 
      Asians.
PG  - 3901-3910
LID - 10.1093/hmg/ddy285 [doi]
AB  - Crohn's disease (CD) and ulcerative colitis (UC) are the major types of chronic 
      inflammatory bowel disease (IBD) characterized by recurring episodes of 
      inflammation of the gastrointestinal tract. Although it is well established that 
      human leukocyte antigen (HLA) is a major risk factor for IBD, it is yet to be 
      determined which HLA alleles or amino acids drive the risks of CD and UC in 
      Asians. To define the roles of HLA for IBD in Asians, we fine-mapped HLA in 
      12 568 individuals from Korea and Japan (3294 patients with CD, 1522 patients 
      with UC and 7752 controls). We identified that the amino acid position 37 of 
      HLA-DRbeta1 plays a key role in the susceptibility to CD (presence of serine being 
      protective, P = 3.6 x 10-67, OR = 0.48 [0.45-0.52]). For UC, we confirmed the 
      known association of the haplotype spanning HLA-C*12:02, HLA-B*52:01 and 
      HLA-DRB1*1502 (P = 1.2 x 10-28, OR = 4.01 [3.14-5.12]).
FAU - Han, Buhm
AU  - Han B
AD  - Department of Medicine, Seoul National University College of Medicine, Seoul, 
      Korea.
AD  - Department of Convergence Medicine, University of Ulsan College of Medicine & 
      Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.
FAU - Akiyama, Masato
AU  - Akiyama M
AD  - Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
FAU - Kim, Kyung-Kon
AU  - Kim KK
AD  - Department of Convergence Medicine, University of Ulsan College of Medicine & 
      Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.
AD  - Convergence Medicine Research Center and Biomedical Research Center, AILS, Asan 
      Medical Center, Seoul, Korea.
FAU - Oh, Hyunjung
AU  - Oh H
AD  - Department of Biochemistry and Molecular Biology, University of Ulsan College of 
      Medicine, Seoul, Korea.
FAU - Choi, Hyunchul
AU  - Choi H
AD  - Department of Biochemistry and Molecular Biology, University of Ulsan College of 
      Medicine, Seoul, Korea.
FAU - Lee, Cue Hyunkyu
AU  - Lee CH
AD  - Department of Medicine, Seoul National University College of Medicine, Seoul, 
      Korea.
AD  - Department of Convergence Medicine, University of Ulsan College of Medicine & 
      Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.
FAU - Jung, Seulgi
AU  - Jung S
AD  - Department of Biochemistry and Molecular Biology, University of Ulsan College of 
      Medicine, Seoul, Korea.
FAU - Lee, Ho-Su
AU  - Lee HS
AD  - Department of Biochemistry and Molecular Biology, University of Ulsan College of 
      Medicine, Seoul, Korea.
FAU - Kim, Emma E
AU  - Kim EE
AD  - Department of Medicine, Seoul National University College of Medicine, Seoul, 
      Korea.
AD  - Department of Convergence Medicine, University of Ulsan College of Medicine & 
      Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.
AD  - Department of Chemistry, Seoul National University, Seoul, Korea.
FAU - Cook, Seungho
AU  - Cook S
AD  - Department of Medicine, Seoul National University College of Medicine, Seoul, 
      Korea.
AD  - Department of Convergence Medicine, University of Ulsan College of Medicine & 
      Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.
FAU - Haritunians, Talin
AU  - Haritunians T
AD  - The F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research 
      Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, 
      USA.
FAU - Yamazaki, Keiko
AU  - Yamazaki K
AD  - Division of Genomic Epidemiology and Clinical Trials, Clinical Trials Research 
      Center, Nihon University School of Medicine, Tokyo, Japan.
AD  - Laboratory for Genotyping Development, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
FAU - Park, Sang Hyoung
AU  - Park SH
AD  - Department of Gastroenterology, Asan Medical Center, University of Ulsan College 
      of Medicine, Seoul, Korea.
FAU - Ye, Byong Duk
AU  - Ye BD
AD  - Department of Gastroenterology, Asan Medical Center, University of Ulsan College 
      of Medicine, Seoul, Korea.
FAU - McGovern, Dermot P B
AU  - McGovern DPB
AD  - The F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research 
      Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, 
      USA.
FAU - Esaki, Motohiro
AU  - Esaki M
AD  - Department of Medicine and Clinical Science, Graduate School of Medical Sciences, 
      Kyushu University, Fukuoka, Japan.
FAU - Kawaguchi, Takaaki
AU  - Kawaguchi T
AD  - Division of Gastroenterology, Department of Medicine, TokyoYamate Medical Center, 
      Tokyo, Japan.
AD  - Division of Gastroenterology and Hepatology, Department of Internal Medicine, 
      Keio University School of Medicine, Tokyo, Japan.
FAU - Khor, Seik-Soon
AU  - Khor SS
AD  - Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
FAU - Taylor, Kent D
AU  - Taylor KD
AD  - Institute for Translational Genomics and Population Sciences,Los Angeles 
      Biomedical Research Institute and Department of Pediatrics, Harbor-UCLA Medical 
      CenterTorrance, CA, USA.
FAU - Rotter, Jerome I
AU  - Rotter JI
AD  - Institute for Translational Genomics and Population Sciences,Los Angeles 
      Biomedical Research Institute and Department of Pediatrics, Harbor-UCLA Medical 
      CenterTorrance, CA, USA.
FAU - Suzuki, Yasuo
AU  - Suzuki Y
AD  - Department of Internal Medicine, Faculty of Medicine, Toho University, Chiba, 
      Japan.
FAU - Matsui, Toshiyuki
AU  - Matsui T
AD  - Department of Gastroenterology, Fukuoka University,Chikushi Hospital, Fukuoka, 
      Japan.
FAU - Motoya, Satoshi
AU  - Motoya S
AD  - Department of Gastroenterology, Sapporo-Kosei General Hospital, Sapporo, Japan.
FAU - Bang, So-Young
AU  - Bang SY
AD  - Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, 
      Seoul, Korea.
FAU - Kim, Tae-Hwan
AU  - Kim TH
AD  - Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, 
      Seoul, Korea.
FAU - Momozawa, Yukihide
AU  - Momozawa Y
AD  - Laboratory for Genotyping Development, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
FAU - Kamatani, Yoichiro
AU  - Kamatani Y
AD  - Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
AD  - Center for Genomic Medicine, Kyoto University Graduate School of 
      Medicine,Sakyo-ku, Kyoto, Japan.
FAU - Tokunaga, Katsushi
AU  - Tokunaga K
AD  - Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
FAU - Kubo, Michiaki
AU  - Kubo M
AD  - RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
FAU - Okada, Yukinori
AU  - Okada Y
AD  - Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical 
      Sciences, Yokohama, Japan.
AD  - Department of Statistical Genetics, Osaka University Graduate School of Medicine, 
      Osaka, Japan.
AD  - Laboratory of Statistical Immunology, Immunology Frontier Research Center 
      (WPI-IFReC), Osaka University, Osaka, Japan.
FAU - Yang, Suk-Kyun
AU  - Yang SK
AD  - Department of Gastroenterology, Asan Medical Center, University of Ulsan College 
      of Medicine, Seoul, Korea.
FAU - Song, Kyuyoung
AU  - Song K
AD  - Department of Biochemistry and Molecular Biology, University of Ulsan College of 
      Medicine, Seoul, Korea.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Amino Acids)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Alleles
MH  - Amino Acid Substitution/genetics
MH  - Amino Acids/chemistry/genetics
MH  - Asian People/genetics
MH  - Colitis, Ulcerative/*genetics/pathology
MH  - Crohn Disease/*genetics/pathology
MH  - Female
MH  - Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA-DRB1 Chains/chemistry/*genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Inflammatory Bowel Diseases/*genetics/pathology
MH  - Japan
MH  - Male
MH  - Protein Conformation
MH  - Republic of Korea
EDAT- 2018/08/08 06:00
MHDA- 2019/05/10 06:00
CRDT- 2018/08/08 06:00
PHST- 2018/02/19 00:00 [received]
PHST- 2018/07/24 00:00 [accepted]
PHST- 2018/08/08 06:00 [pubmed]
PHST- 2019/05/10 06:00 [medline]
PHST- 2018/08/08 06:00 [entrez]
AID - 5061929 [pii]
AID - 10.1093/hmg/ddy285 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2018 Nov 15;27(22):3901-3910. doi: 10.1093/hmg/ddy285.