Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians

Buhm Han, Masato Akiyama, Kyung Kon Kim, Hyunjung Oh, Hyunchul Choi, Cue Hyunkyu Lee, Seulgi Jung, Ho Su Lee, Emma E. Kim, Seungho Cook, Talin Haritunians, Keiko Yamazaki, Sang Hyoung Park, Byong Duk Ye, Dermot P.B. McGovern, Motohiro Esaki, Takaaki Kawaguchi, Seik Soon Khor, Kent D. Taylor, Jerome I. RotterYasuo Suzuki, Toshiyuki Matsui, Satoshi Motoya, So Young Bang, Tae Hwan Kim, Yukihide Momozawa, Yoichiro Kamatani, Katsushi Tokunaga, Michiaki Kubo, Yukinori Okada, Suk Kyun Yang, Kyuyoung Song

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


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-DRβ1 plays a key role in the susceptibility to CD (presence of serine being protective, P = 3.6 × 10−67, OR = 0.48 [0.45-0.52]). For UC, we confirmed the known association of the haplotype spanning HLA-C12:02, HLA-B52:01 and HLA-DRB11502 (P = 1.2 × 10−28, OR = 4.01 [3.14-5.12]).

Original languageEnglish
Pages (from-to)3901-3910
Number of pages10
JournalHuman molecular genetics
Issue number22
Publication statusPublished - 01-11-2018

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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