From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
2.2
|
90% reduction in HIV viral load
|
| (C;T)
|
2.1
|
60% reduction in HIV viral load
|
| (T;T)
|
0
|
normal
|
| ? | (C;C) (C;T) (T;T) | 28 |
 |
This SNP (C/T) is in 5' region of the HLA-C gene, 35 kb away from transcription initiation in or around the HLA-C gene.
"People with this tiny sequence variation, dubbed rs9264942, appear to have up to 90% less virus in their systems than those who carry other polymorphisms.
About 10% of Europeans appear to carry two copies of rs9264942, which leads to an average 90% viral load reduction. About 50% of Europeans carry one copy, which gives a 60% reduction. By comparison, less than 40% of people of African descent appear to carry a single copy of the polymorphism."
Genetic variation may lower HIV load by 90%
They are referring to the (C;C) genotype giving a 90% reduction and the (C;T) giving a 60% reduction.
dbSNP page
This SNP is also reported [PMID 17641165] to account for 6.5% of the 15% variation in viral load set point in asymptomatic HIV infected individuals. rs2395029 can also be associated with reduced HIV viral load set point.
| PharmGKB | PA162356004 |
| Name | |
| Annotation | This variant is associated with low HIV viral load (for C allele carriers). |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17641165 |
| Drugs | |
| Diseases | HIV, HIV Infections |
| Curation Level | Curated |
| PharmGKB | PA162355625 |
| Name | |
| Annotation | In replicated GWAS, rs9264942 explained 6.5% of the total variation in viral set point in HIV-1 infected subjects. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17641165 |
| Drugs | |
| Diseases | HIV, HIV Infections |
| Curation Level | Curated |
| PharmGKB | PA162316693 |
| Name | |
| Annotation | This variant is associated with low HIV viral load (for C allele carriers). |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17641165 |
| Drugs | |
| Diseases | HIV, HIV Infections |
| Curation Level | Curated |
[PMID 21067287] Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk
| GWAS snp
|
| PMID
|
[PMID 21051598]
|
| Trait
|
|
| Title
|
The Major Genetic Determinants of HIV-1 Control Affect HLA Class I Peptide Presentation
|
| Risk Allele
|
C
|
| P-val
|
3E-35
|
| Odds Ratio
|
2.9000 [NR]
|