HLA-C level is regulated by a polymorphic Oct1 binding site in the HLA-C promoter region
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, gave the most
significant association with HLA-C levels (p= 4.2× 10− 66). This imputed expression …
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, gave the most
significant association with HLA-C levels (p= 4.2× 10− 66). This imputed expression …
[PDF][PDF] HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region
MC Anderson - hal.science
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 gave the most
significant association with HLA-C levels (p= 4.2 x10-66). This imputed expression …
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 gave the most
significant association with HLA-C levels (p= 4.2 x10-66). This imputed expression …
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