Supporting data for "Deep sequencing of human major histocompatibility complex region contributes to studies of complex disease".

Dataset type: Genomic
Data released on November 29, 2015

Zhou F; Cao H; Zuo X; Zhang T; Wang W; Liu X; Xu R; Chen G; Zhang Y; Zheng X; Jin X; Gao J; Mei J; Sheng Y; Li Q; Liang B; Shen J; Shen C; Jiang H; Zhu C; Fan X; Xu F; Yue M; Yin X; Ye C; Zhang C; Liu X; Yu L; Wu J; Chen M; Zhuang X; Tang L; Shao H; Wu L; Li J; Xu Y; Zhang Y; Zhao S; Wang Y; Li G; Xu H; Zeng L; Wang J; Bai M; Chen Y; Chen W; Kang T; Wu Y; Xu X; Zhu Z; Cui Y; Wang Z; Yang C; Wang P; Xiang L; Chen X; Zhang A; Gao X; Zhang F; Xu J; Zheng M; Zheng J; Zhang J; Yu X; Li Y; Yang S; Liu J; Hammarstrom L; Sun L; Wang J; Zhang X (2015): Supporting data for "Deep sequencing of human major histocompatibility complex region contributes to studies of complex disease". GigaScience Database. http://dx.doi.org/10.5524/100156

DOI10.5524/100156

The human major histocompatibility complex (MHC) has been shown to be associated with numerous diseases. However, it remains a challenge to pinpoint causal variants of these associations due to the ex-treme complexity of the region. We thus sequenced the entire 5 Mb MHC region in 20,635 individuals of Han Chinese ethnicity (10,689 controls and 9,946 psoriasis patients) and constructed a Han-MHC da-tabase which included both variants and HLA gene typing results with high accuracy. We further identi-fied multiple independent novel susceptibility loci in HLA-C, HLA-B, HLA-DPB1, BTNL2 and an inter-genic variant, rs118178193 for psoriasis and confirmed the well-established susceptibility locus HLA-C*06:02. These discovered psoriasis-associated loci in MHC region were markedly different from those described in Caucasian population in a recent analysis and highlights the importance of generating population-specific MHC databases for studies of complex disease. 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 our understanding of the pathogenesis of these disorders.

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(PubMed: 27213287)





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December 1, 2015 Dataset publish
December 3, 2015 Dataset publish
March 10, 2016 Title updated from : Supporting data for "Deep sequencing of human major histocompatibility complex region contributes to complex disease".
March 10, 2016 Description updated from : We sequenced the entire 5 Mb MHC region in 20,635 individuals of Chinese Han ethnicity (10,689 controls and 9,946 psoriasis patients). We not only identified novel specific genome features in the Chinese population, but also revealed a remarkable genetic heterogeneity of this region between different regions and ethnic groups. We further identified multiple independent novel susceptibility loci in HLA-C, HLA-B, HLA-DPB1, BTNL2 and HCG9 for psoriasis and confirmed the well-established susceptibility locus HLA-C*0602.
May 24, 2016 Manuscript Link added : 10.1038/ng.3576
June 21, 2021 Manuscript Link updated : 10.1038/ng.3576