Article
HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region.
American journal of human genetics - 1 Dec 2016
Vince Nicolas, Li Hongchuan, Ramsuran Veron, Naranbhai Vivek, Duh Fuh-Mei, Fairfax Benjamin P, Saleh Bahara, Knight Julian C, Anderson Stephen K, Carrington Mary
Abstract excerpt
Differential HLA-C levels influence several human diseases, but the mechanisms responsible are incompletely characterized. Using a validated prediction algorithm, we imputed HLA-C cell surface levels in 228 individuals from the 1000 Genomes dataset. We tested 68,726 SNPs within the MHC for association with HLA-C level. The HLA-C promoter region variant, rs2395471, 800 bp upstream of the transcription start site,...
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