Polymorphism of the HLA-C promotor region

Characterization of a new HLA‐B allele, HLA‐B*5312, and re‐evaluation of the published sequences of the untranslated regions of HLA‐B*35 and HLA‐B*53

“…Similarly, for HLA‐B*530101, a T at nucleotide −221 appears to be unlikely because a C is described at this position for all other HLA‐B alleles that have been sequenced so far (Figure 4). Supporting our findings, a C at nucleotide −221 was assigned to an HLA‐B53 sample in a promoter study in 1995 (7). Subsequent correspondence with the previous submitters of the genomic sequences for HLA‐B*350101 and HLA‐B*530101 (6) confirmed that our typing results were correct.…”

Immunogenetics of HIV disease

“…We can, with fair certainty, rule out the possibility that rs9264942 has any direct effect on HLA-C expression. It is not located in any canonical transcription factor binding site, nor are there polymorphisms in known HLA-C cis-acting regulatory elements (132) that are in linkage disequilibrium (LD) with rs9264942 or that show better association with viral load control (130). Importantly, the rs9264942 SNP is in poor linage disequilibrium with HLA-C alleles in people of African descent and neither mark HLA-C expression levels nor associate with HIV control in African Americans (109–111).…”

Immunogenetics of Spontaneous Control of HIV

“…This SNP is not located in any canonical transcription factor binding site that might alter expression levels, and there are no polymorphisms in the cis -acting regulatory elements in the promoter region of HLA-C alleles (48) that are in LD with the −35 SNP or that show better association with viral-load control (46). Thus, the −35 SNP is probably not the causal variant for differential HLA-C expression but rather may be marking by LD another polymorphism that directly affects levels of HLA-C (46).…”