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The chemokine receptor gene CCR5 plays an important role in many immune-related processes. Delta 32 rs333, designating the CCR5-delta32 deletion of 32 nucleotides from within the gene, is perhaps the most famous allele of CCR5. 23andMe tests for this by the name I3003626.
Individuals carrying one copy of the delta 32 allele are somewhat resistant to infection by HIV, the virus that causes AIDS, and individuals with 2 copies (delta 32 homozygotes, ~1% of Caucasians) are almost completely immune to infection by HIV. [PMID 8898752] The delta 32 allele may have been selected for in European populations because it confers resistance to plague (Black Death) or smallpox. [PMID 16216086] shows the the geographic spread of the allele.
Does the CCR5-delta32 mutation have an entirely positive/protective role?
Probably not. In patients with abdominal aortic aneurysm (AAA), the major risk is a sudden rupture - which is quite often fatal. Individuals with the delta 32 variant are more likely to have aneurysms than non-carriers, and among patients with aneurysms, delta 32 carriers are more likely to rupture than to be diagnosed in time for surgical repair. [PMID 15557916]
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[PMID 18633131] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.
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[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
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[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20206716] Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations.
[PMID 20552027] Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.
[PMID 21854194] Distribution of polymorphisms in cytochrome P450 2B6, histocompatibility complex P5, chemokine coreceptor 5, and interleukin 28B genes in inhabitants from the central area of Argentina.
[PMID 22474614] Host Genes Important to HIV Replication and Evolution.
|qualified_impact||Low clinical importance, protective|
|summary||Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.|
|Disease||Congenital human immunodeficiency virus West nile virus Resistance to hepatitis C virus Multiple sclerosis modifier of disease progression|
|CLNDBN||Congenital human immunodeficiency virus West nile virus, susceptibility to Resistance to hepatitis C virus Multiple sclerosis modifier of disease progression|
|CLNSRC||ClinVar OMIM Allelic Variant|
|CLNACC||RCV000008663.1, RCV000008664.1, RCV000008665.2, RCV000008666.2,|