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Chemokine, CC motif, receptor 5

The CCR5 gene encodes a chemokine receptor expressed on lymphocytes and used by several viruses to enter the cell. Genetic variants are associated with susceptibility to several virus infections and type 1 diabetes.

Epidemiology

The frequency of CCR5 32bp deletion exhibits a gradient from North to South. This mutation can not be found in Asia. The first occurance of this mutation is dated 150.000 years ago.

Gene Structure

The gene CCR5 is about 6kb in size. It is localized on chromosome 3 at position 3p21. The gene consists of 4 exons but only the very large exon 4 is translated. The exons 2 and 3 are fused. This way only 2 introns exist.

Phenotype

The so called HIV resistance has the main clinical importance. It occurse in cases where a mutation destroys the function of the receptor. Most common in our populations is the CCR5 32bp deletion.

Pathology

The protein product of that gene is a receptor for chemokines, so this gene is tighly connected to inflammatory processes and it can modify its sequence and apperance. Many of such modification have been investigated in clinical settings and animal models. The influence on manifestation of AIDS after HIV infection is the most important one. But some clinical data suggest that there is an influence on course and severity of glomerulonephritis, IgA nephropathy in particular.

Test Strategy

Patients with a higher risk for HIV exposition (prostitutes, druggies, physicians, nurces, patients requiring recurrent blood transfusions).To estimate prognosis this test may be used in HIV infected patients together with virus load and CD4/CD8-relation.

Interpretation

HIV infected patients which are heterozygous for this mutation will develop the typical symtomes of AIDS later on. Homozygous paitients may never become ill.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

HIV resistance
AIDS progression
IFNG
CCR5
CXCR1
HIV-1 viremia susceptibility
HLA-C
HIV1 susceptibility
IL10
Susceptibility to type 1 diabetes 22
CCR5

References:

1.

Knudsen TB et al. (2001) Adverse effect of the CCR5 promoter -2459A allele on HIV-1 disease progression.

external link
2.

Ioannidis JP et al. (2001) Effects of CCR5-Delta32, CCR2-64I, and SDF-1 3'A alleles on HIV-1 disease progression: An international meta-analysis of individual-patient data.

external link
3.

Tang J et al. (2002) Distribution of chemokine receptor CCR2 and CCR5 genotypes and their relative contribution to human immunodeficiency virus type 1 (HIV-1) seroconversion, early HIV-1 RNA concentration in plasma, and later disease progression.

external link
4.

NCBI article

NCBI 1234 external link
5.

OMIM.ORG article

Omim 601373 external link
6.

Orphanet article

Orphanet ID 324270 external link
7.

Wikipedia article

Wikipedia EN (CCR5) external link
Update: Aug. 14, 2020
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