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

F Zhou, H Cao, X Zuo, T Zhang, X Zhang, X Liu, R Xu… - Nature …, 2016 - nature.com
F Zhou, H Cao, X Zuo, T Zhang, X Zhang, X Liu, R Xu, G Chen, Y Zhang, X Zheng, X Jin
Nature genetics, 2016nature.com
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 …
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.
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