Genetic variability in markers of HLA-C expression in two diverse South African populations.

ABSTRACT: An insertion-deletion (indel) polymorphism within the 3' untranslated region (UTR) of HLA-C has been shown to be involved in the regulation of HLA-C expression. Individuals who carry a deletion at this position exhibit increased HLA-C expression, which associates with lower viral set point in HIV-1 infected individuals. This 263 indel (rs67384697) is reported to be in strong linkage disequilibrium (LD) with a single nucleotide polymorphism (SNP) 35 kilobases upstream of HLA-C (-35T/C; rs9264942) in Caucasian individuals, making this SNP a potential marker for both HLA-C expression and HIV-1 disease progression. We therefore examined genetic variation within the HLA-C 3' UTR of 265 Black and Caucasian South Africans by direct sequencing and identified haplotypes encompassing the 263 indel a

SUBMITTER: Gentle NL 

PROVIDER: S-EPMC3702582 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature