COVID-19 research
Gene: HLA-C
HLA-C was identified through an OMIM search for potential viral susceptibility genes. Initial triage by Illumina (Alison Coffey and team) was given a Tier 3 grouping (experimental evidence and association data consistent with viral susceptibility). Illumina review: From OMIM: PMID: 11386265 - Gao et al. (2001) concluded that the previously observed association of HLA-Cw*04 with progression to AIDS was due to its linkage disequilibrium with HLA-B*35-Px alleles. PMID:17641165 - Fellay et al. (2007) identified polymorphisms that explain nearly 15% of the variation among individuals in viral load during the asymptomatic set-point period of infection. One of these lies within an endogenous retroviral element and is associated with major histocompatibility allele HLA-B*5701 (142830.0003), whereas a second is located near the HLA-C gene. PMID:19933563 - Thomas et al. (2009) - Genotyped a previously identified varinat 35 kb upstream of the HLA-C gene in 1,698 patients of European ancestry with HIV. Tested cell surface expression of HLA-C in normal donors using an HLA-C-specific antibody. Found that the -35C allele is a proxy for high HLA-C cell surface expression, and that individuals with high surface expression better control viremia and progress more slowly to AIDS. Thomas et al. (2009) concluded that high HLA-C expression results in more effective control of HIV-1, possibly through better antigen presentation to cytotoxic T lymphocytes. PMID 21051598: International HIV Controllers Study performed a GWAS in a multiethnic cohort of HIV-1 controllers and progressors, and analyzed the effects of individual amino acids within the classical human leukocyte antigen (HLA) proteins and demonstrated HLA-C expression affects response to HIV - higher HLA-C expression is associated with better control of HIV-1.
Created: 11 Jun 2020, 6:10 p.m. | Last Modified: 12 Jun 2020, 10:27 a.m.
Panel Version: 1.26
The International HIV Controllers Study (2010) identified HLA-C SNPs that were associated with protective and risk HLA alleles (PMID 21051598). High HLA-C expression results in more effective control of HIV-1.Created: 4 May 2020, 3:17 p.m. | Last Modified: 4 May 2020, 3:17 p.m.
Panel Version: 0.176
Mode of inheritance
Unknown
Phenotypes
{HIV-1 viremia, susceptibility to} 609423
Publications
Phenotypes for gene: HLA-C were changed from to {HIV-1 viremia, susceptibility to} 609423
Publications for gene: HLA-C were set to
gene: HLA-C was added gene: HLA-C was added to Viral susceptibility. Sources: OMIM Mode of inheritance for gene: HLA-C was set to