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. Rotter; Yasuo 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

doi:10.1093/hmg/ddy285

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

内科学(消化器)

研究成果: Article › 査読

12 被引用数 (Scopus)

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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-C^∗12:02, HLA-B^∗52:01 and HLA-DRB1^∗1502 (P = 1.2 × 10⁻²⁸, OR = 4.01 [3.14-5.12]).

本文言語	English
ページ（範囲）	3901-3910
ページ数	10
ジャーナル	Human molecular genetics
巻	27
号	22
DOI	https://doi.org/10.1093/hmg/ddy285
出版ステータス	Published - 2018 11月 1

ASJC Scopus subject areas

分子生物学
遺伝学
遺伝学（臨床）

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

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10.1093/hmg/ddy285

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Han, B., Akiyama, M., Kim, K. K., Oh, H., Choi, H., Lee, C. H., Jung, S., Lee, H. S., Kim, E. E., Cook, S., Haritunians, T., Yamazaki, K., Park, S. H., Ye, B. D., McGovern, D. P. B., Esaki, M., Kawaguchi, T., Khor, S. S., Taylor, K. D., ... Song, K. (2018). Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians. Human molecular genetics, 27(22), 3901-3910. https://doi.org/10.1093/hmg/ddy285

Han, B, Akiyama, M, Kim, KK, Oh, H, Choi, H, Lee, CH, Jung, S, Lee, HS, Kim, EE, Cook, S, Haritunians, T, Yamazaki, K, Park, SH, Ye, BD, McGovern, DPB, Esaki, M, Kawaguchi, T, Khor, SS, Taylor, KD, Rotter, JI, Suzuki, Y, Matsui, T, Motoya, S, Bang, SY, Kim, TH, Momozawa, Y, Kamatani, Y, Tokunaga, K, Kubo, M, Okada, Y, Yang, SK & Song, K 2018, 'Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians', Human molecular genetics, vol. 27, no. 22, pp. 3901-3910. https://doi.org/10.1093/hmg/ddy285

@article{8703d70ff64945bc884e2dd8cf0c7135,

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

abstract = "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-C∗12:02, HLA-B∗52:01 and HLA-DRB1∗1502 (P = 1.2 × 10−28, OR = 4.01 [3.14-5.12]).",

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

note = "Funding Information: PLSI supercomputing resources of the Korea Institute of Science and Technology Information; Korean Health Technology R & D Project grant through the Korea Health Industry Development Institute (A120176 to S.-K.Y.), funded by the Ministry of Health & Welfare; Mid-Career Researcher Program grant through the National Research Foundation of Korea (2017R1A2A1A05001119 to K.S.), funded by the Ministry of Science, Information & Communication Technology, and Future Planning of the Republic of Korea. Publisher Copyright: {\textcopyright} The Author(s) 2018. Published by Oxford University Press. All rights reserved.",

year = "2018",

month = nov,

day = "1",

doi = "10.1093/hmg/ddy285",

language = "English",

volume = "27",

pages = "3901--3910",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "22",

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T1 - Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians

AU - Han, Buhm

AU - Akiyama, Masato

AU - Kim, Kyung Kon

AU - Oh, Hyunjung

AU - Choi, Hyunchul

AU - Lee, Cue Hyunkyu

AU - Jung, Seulgi

AU - Lee, Ho Su

AU - Kim, Emma E.

AU - Cook, Seungho

AU - Haritunians, Talin

AU - Yamazaki, Keiko

AU - Park, Sang Hyoung

AU - Ye, Byong Duk

AU - McGovern, Dermot P.B.

AU - Esaki, Motohiro

AU - Kawaguchi, Takaaki

AU - Khor, Seik Soon

AU - Taylor, Kent D.

AU - Rotter, Jerome I.

AU - Suzuki, Yasuo

AU - Matsui, Toshiyuki

AU - Motoya, Satoshi

AU - Bang, So Young

AU - Kim, Tae Hwan

AU - Momozawa, Yukihide

AU - Kamatani, Yoichiro

AU - Tokunaga, Katsushi

AU - Kubo, Michiaki

AU - Okada, Yukinori

AU - Yang, Suk Kyun

AU - Song, Kyuyoung

N1 - Funding Information: PLSI supercomputing resources of the Korea Institute of Science and Technology Information; Korean Health Technology R & D Project grant through the Korea Health Industry Development Institute (A120176 to S.-K.Y.), funded by the Ministry of Health & Welfare; Mid-Career Researcher Program grant through the National Research Foundation of Korea (2017R1A2A1A05001119 to K.S.), funded by the Ministry of Science, Information & Communication Technology, and Future Planning of the Republic of Korea. Publisher Copyright: © The Author(s) 2018. Published by Oxford University Press. All rights reserved.

PY - 2018/11/1

Y1 - 2018/11/1

N2 - 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-C∗12:02, HLA-B∗52:01 and HLA-DRB1∗1502 (P = 1.2 × 10−28, OR = 4.01 [3.14-5.12]).

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-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-C∗12:02, HLA-B∗52:01 and HLA-DRB1∗1502 (P = 1.2 × 10−28, OR = 4.01 [3.14-5.12]).

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U2 - 10.1093/hmg/ddy285

DO - 10.1093/hmg/ddy285

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AN - SCOPUS:85056257724

SN - 0964-6906

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JO - Human Molecular Genetics

JF - Human Molecular Genetics

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

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ASJC Scopus subject areas

UN SDG

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