Human Immunodeficiency Virus (HIV) Infection: Genetics

Host genes influence many aspects of the human immunodeficiency virus (HIV) from transmission and infection to disease progression and acquired immunodeficiency syndrome as well as responses to drugs and HIV vaccines.

Keywords: AIDS; HLA; chemokine; cytokine; host genes

 References
    Bidwell J, Keen L, Gallagher G, et al. (2001) Cytokine gene polymorphism in human disease: on-line databases, supplement 1. Genes and Immunity 2: 61–70.
    Carrington M, Nelson GW, Martin MP, et al. (1999) HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 283: 1748–1752.
    Gao X, Nelson GW, Karacki P, et al. (2001) Effect of a single amino acid change in MHC class I molecules on the rate of progression to AIDS. New England Journal of Medicine 344: 1668–1675.
    Gonzalez E, Bamshad M, Sato N, et al. (1999) Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proceedings of the National Academy of Sciences of the United States of America 96: 12004–12009.
    Hetherington S, Hughes AR, Mosteller M, et al. (2002) Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet 359: 1121–1122.
    Hogan CM and Hammer SM (2001) Host determinants in HIV infection and disease. Part 2: genetic factors and implications for antiretroviral therapeutics. Annals of Internal Medicine 134: 978–996.
    Ioannidis JP, Rosenberg PS, Goedert JJ, 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. Annals of Internal Medicine 135: 782–795.
    Kaslow RA, Carrington M, Apple R, et al. (1996) Influence of combinations of human major histocompatibility complex genes on the course of HIV-1 infection. Nature Medicine 2: 405–411.
    Kaslow RA, Rivers C, Tang J, et al. (2001) Polymorphisms in HLA class I genes associated with both favorable prognosis of HIV-1 infection and positive cytotoxic T-lymphocyte responses to ALVAC-HIV recombinant canarypox vaccines. Journal of Virology 75: 8681–8689.
    Mallal S, Nolan D, Witt C, et al. (2002) Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. The Lancet 359: 727–732.
    Moore CB, John M, James IR, et al. (2002) Evidence of HIV-1 adaptation to HLA-restricted immune responses at a population level. Science 296: 1439–1443.
    O'Brien SJ and Moore JP (2000) The effect of genetic variation in chemokines and their receptors on HIV transmission and progression to AIDS. Immunology Reviews 177: 99–111.
    O'Brien SJ, Nelson GW, Winkler CA and Smith MW (2000) Polygenic and multifactorial disease gene association in man: lessons from AIDS. Annual Review of Genetics 34: 563–591.
    Tang J, Tang S, Lobashevsky E, et al. (2002) Favorable and unfavorable HLA Class I alleles and haplotypes in Zambians infected predominantly with clade C human immunodeficiency virus type 1. Journal of Virology 76: 8276–8284.
 Further Reading
    Carrington M, Nelson G and O'Brien SJ (2001) Considering genetic profiles in functional studies of immune responsiveness to HIV-1. Immunology Letters 79: 131–140.
    Cooke GS and Hill AV (2001) Genetics of susceptibility to human infectious disease. Nature Reviews Genetics 2: 967–977.
    Hill AVS (2001) The genomics and genetics of human infectious disease susceptibility. Annual Review of Genomics and Human Genetics 2: 373–400.
    Kaslow RA and McNicholl JM (1999) Genetic determinants of HIV-1 infection and its manifestations. Proceedings of the Association of American Physicians 111: 299–307.
    Kostrikis LG (2000) Impact of natural chemokine receptor polymorphisms on perinatal transmission of human immunodeficiency virus type 1. Teratology 61: 387–390.
 Web Links
    ePath Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/omim/
    ePath ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1); Locus ID: 5243. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5243
    ePath Chemokine (C-C motif) receptor 5 (CCR5); Locus ID: 1234. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1234
    ePath Interleukin 1 receptor, type I (IL1R1); Locus ID: 3554. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3554
    ePath Major histocompatibility complex, class I, B (HLA-B); Locus ID: 3106. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3106
    ePath Mannose-binding lectin (protein C) 2, soluble (opsonic defect) (MBL2); Locus ID: 4153. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4153
    ePath ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1); MIM number: 171050. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?171050
    ePath Chemokine (C-C motif) receptor 5 (CCR5); MIM number: 601373. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601373
    ePath Interleukin 1 receptor, type I (IL1R1); MIM number: 147810. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147810
    ePath Major histocompatibility complex, class I, B (HLA-B); MIM number: 142830. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?142830
    ePath Mannose-binding lectin (protein C) 2, soluble (opsonic defect) (MBL2); MIM number: 154545. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?154545
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McNicholl, Janet M, Lal, Renu B, and Kaslow, Richard(Sep 2006) Human Immunodeficiency Virus (HIV) Infection: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006228]