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Human Molecular Genetics, 1999, Vol. 8, No. 10 1939-1945
© 1999 Oxford University Press

Review

Genetics of HIV-1infection: chemokine receptor CCR5 polymorphism and its consequences

Mary Carrington, Michael Dean1, Maureen P. Martin and StephenJ. O’Brien1,a

Intramural Research Support Program, SAIC-Frederick, MD21702-1201, USA and 1Laboratoryof Genomic Diversity, National Cancer Institute, Frederick, MD 21702-1201,USA

ABSTRACT

The chemokine receptor gene, CCR5,has become a central theme in studies of host genetic effects onHIV-1 pathogenesis ever since the discovery that the CCR5 moleculeserves as a major cell surface co-receptor for the virus. A growingnumber of genetic variants within the coding and 5" regulatoryregion of CCR5 have been identified, several ofwhich have functional consequences for HIV-1 pathogenesis. Herewe review the CCR5 literature describing CCR5 polymorphism and thefunctional ramifications that several of these variants have onHIV-1 infection and progression to AIDS. The multiplicity of CCR5 geneticeffects on HIV-1 disease underscores the critical importance ofthis gene in controlling AIDS pathogenesis and provides the logicfor develop­ment of therapeutic strategies that targetthe interaction of HIV-1 envelope and CCR5 in HIV-1 associated disease.

FOOTNOTES

a Towhom correspondence should be addressed. Tel: +1 301 8461296; Fax: +1 301 846 1686; Email: obrien{at}ncifcrf.gov


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