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Nat Genet. 2016 Jul;48(7):740-6. doi: 10.1038/ng.3576. Epub 2016 May 23.

Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease.

Author information

1
Department of Dermatology, No. 1 Hospital and Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China.
2
BGI-Shenzhen, Shenzhen, China.
3
iCarbonX, Shenzhen, China.
4
Department of Biology, University of Copenhagen, Copenhagen, Denmark.
5
Department of Nephrology, First Affiliated Hospital, Sun Yat-sen University, Key Laboratory of Nephrology, Ministry of Health, Guangzhou, China.
6
School of Biological Science and Medical Engineering, Southeast University, Nanjing, China.
7
Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
8
Department of Dermatology, No. 2 Hospital, Anhui Medical University, Hefei, China.
9
Department of Dermatology, Xiangya Hospital, Central South University, Changsha, China.
10
Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
11
Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, China.
12
Department of Dermatology, Huashan Hospital and Collaborative Innovation Center of Complex and Severe Skin Disease, Fudan University, Shanghai, China.
13
Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
14
Department of Dermatology, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
15
Department of Dermatology, Peking University People's Hospital, Beijing, China.
16
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
17
James D. Watson Institute of Genome Sciences, Hangzhou, China.
18
Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
19
Princess Al-Jawhara Albrahim Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
20
Macau Institute for Applied Research in Medicine and Health, Macau University of Science and Technology, Taipa, Macau, China.
21
Department of Medicine, University of Hong Kong, Hong Kong, China.
22
State Key Laboratory of Pharmaceutical Biotechnology, University of Hong Kong, Hong Kong, China.

Abstract

The human major histocompatibility complex (MHC) region has been shown to be associated with numerous diseases. However, it remains a challenge to pinpoint the causal variants for these associations because of the extreme complexity of the region. We thus sequenced the entire 5-Mb MHC region in 20,635 individuals of Han Chinese ancestry (10,689 controls and 9,946 patients with psoriasis) and constructed a Han-MHC database that includes both variants and HLA gene typing results of high accuracy. We further identified multiple independent new susceptibility loci in HLA-C, HLA-B, HLA-DPB1 and BTNL2 and an intergenic variant, rs118179173, associated with psoriasis and confirmed the well-established risk allele HLA-C*06:02. We anticipate that our Han-MHC reference panel built by deep sequencing of a large number of samples will serve as a useful tool for investigating the role of the MHC region in a variety of diseases and thus advance understanding of the pathogenesis of these disorders.

PMID:
27213287
DOI:
10.1038/ng.3576
[Indexed for MEDLINE]

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