Susceptibility to Human Infectious Diseases, Genetics of

Richard A Kaslow, University of Alabama at Birmingham, Birmingham, Alabama, USA
Sadeep Shrestha, University of Alabama at Birmingham, Birmingham, Alabama, USA
Jianming ‘James’ Tang, University of Alabama at Birmingham, Birmingham, Alabama, USA

Published online: May 2008

DOI: 10.1002/9780470015902.a0020761

Microbial pathogens have shaped portions of the human genome over the millennia of its evolution, resulting in human genetic diversity and differential susceptibility to infectious diseases. Distinguishing characteristics of infectious diseases permit and require specific approaches to the investigation of genetic influences that can differ substantially from highly favourable to highly unfavourable. Expanding knowledge and improved technology are revealing important deoxyribonucleic acid (DNA) sequence and structural polymorphism in critical pathways of the innate and acquired immune systems. Reports are proliferating on relationships of responses to infection with variants of genes that encode secreted cytokines and lectins along with their receptors, intracellular signalling molecules, components of the antigen-presenting machinery and other effector or regulatory products. These notable accomplishments foreshadow both revelations and challenges in dissecting the complex host genetic mediation of differential responses to infectious diseases in individuals and populations.

Keywords: antigen presentation; genetic susceptibility; immune response; infectious disease; innate immunity; acquired immunity

Figure 1. Kaplan–Meier plot of time to seroconversion of HIV-1–seronegative partners among Zambian couples discordant for HIV-1 infection, according to the number of HLA-B alleles shared between partners. Reprinted with permission from Dorak et al. (2004).
Figure 2. Distribution of selected HLA-B alleles associated with effective immune control of HIV-1 infection. In studies of healthy native American (NA), Hispanic American (HA), European American (EA) and African American (AA) individuals (Adapted from Cao et al., 2001), interpopulation differences are often striking, as illustrated by B*1301, B*5703 and B*5801. Because of their coevolution with variants in other genes, identical findings would not necessarily be predicted, and complete replication is not always feasible in separate cohorts.
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 References
    Bhattacharya T, Daniels M, Heckerman D et al. (2007) Founder effects in the assessment of HIV polymorphisms and HLA allele associations. Science 315(5818): 1583–1586.
    Cao K, Hollenbach J, Shi X et al. (2001) Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations. Human Immunology 62(9): 1009–1030.
    Carrington M, Nelson GW, Martin MP et al. (1999) HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 283(5408): 1748–1752.
    Cooke GS and Hill AVS (2001) Genetics of susceptibility to infectious disease. Nature Reviews. Genetics 2: 967–977.
    Dorak MT, Tang J, Penman-Aguilar A et al. (2004) Transmission of HIV-1 and HLA-B allele-sharing within serodiscordant heterosexual Zambian couples. Lancet 363(9427): 2137–2139.
    Gyulai Z, Klausz G and Tiszai A (2004) Genetic polymorphism of interleukin-8 (IL-8) is associated with Helicobacter pylori-induced duodenal ulcer. European Cytokine Network 15(4): 353–358.
    Hill AV, Allsopp CE, Kwiatkowski D et al. (1991) Common west African HLA antigens are associated with protection from severe malaria. Nature 352(6336): 595–600.
    Kaslow RA, Rivers C, Tang J et al. (2001) Polymorphisms in HLA class I genes associated with both favorable prognosis of human immunodeficiency virus (HIV) type 1 infection and positive cytotoxic T-lymphocyte responses to ALVAC-HIV recombinant canarypox vaccines. Journal of Virology 75(18): 8681–8689.
    Kiepiela P, Leslie AJ, Honeyborne I et al. (2004) Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA. Nature 432(7018): 769–775.
    Kouriba B, Chevillard C, Bream JH et al. (2005) Analysis of the 5q31-q33 locus shows an association between IL13-1055C/T IL-13-591A/G polymorphisms and Schistosoma haematobium infections. Journal of Immunology 174(10): 6274–6281.
    Kovács GG, Puopolo M, Ladogana A et al. (2005) Genetic prion disease: the EUROCJD experience. Human Genetics 118(2): 166–174.
    Lazaryan A, Lobashevsky E, Mulenga J et al. (2006) Human leukocyte antigen B58 supertype and human immunodeficiency virus type 1 infection in native Africans. Journal of Virology 80(12): 6056–6060.
    Leslie AJ, Pfafferott KJ, Chetty P et al. (2004) HIV evolution: CTL escape mutation and reversion after transmission. Nature Medicine 10(3): 282–289.
    Li HT, Zhang TT, Zhou YQ et al. (2006) SLC11A1 (formerly NRAMP1) gene polymorphisms and tuberculosis susceptibility: a meta-analysis. The International Journal of Tuberculosis and Lung Disease 10(1): 3–12.
    Lindesmith L, Moe C, Marionneau S et al. (2003) Human susceptibility and resistance to Norwalk virus infection. Nature Medicine 9(5): 548–553.
    Lu W, Pan K, Zhang L, Lin D, Miao X and You W (2005) Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population. Carcinogenesis 26(3): 631–636.
    Martin MP, Qi Y, Gao X et al. (2007) Innate partnership of HLA-B and KIR3DL1 subtypes against HIV-1. Nature Genetics 39(6): 733–740.
    Meanwell NA and Kadow JF (2007) Maraviroc, a chemokine CCR5 receptor antagonist for the treatment of HIV infection and AIDS. Current Opinion in Investigational Drugs 8(8): 669–681.
    Mira MT, Alcaïs A, Nguyen VT et al. (2004) Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 427(6975): 636–640.
    Rossouw M, Nel HJ, Cooke GS et al. (2003) Association between tuberculosis and a polymorphic NFkappaB binding site in the interferon gamma gene. Lancet 361(9372): 1871–1872.
    Singh M, Balamurugan A, Katoch K et al. (2007) Immunogenetics of mycobacterial infections in the North Indian population. Tissue Antigens 69(suppl. 1): 228–230.
    Single RM, Martin MP, Gao X et al. (2007) Global diversity and evidence for coevolution of KIR and HLA. Nature Genetics 39(9): 1114–1119.
    Sørensen TI, Nielsen GG, Andersen PK et al. (1988) Genetic and environmental influences on premature death in adult adoptees. New England Journal of Medicine 318(12): 727–732.
    book Steinberg MH, Forget BG, Higgs DR et al. (2001) Disorders of Hemoglobin. New York: Cambridge University Press.
    Stewart-Jones GB, Gillespie G, Overton IM et al. (2005) Structures of three HIV-1 HLA-B*5703-peptide complexes and identification of related HLAs potentially associated with long-term nonprogression. Journal of Immunology 175(4): 2459–2468.
    Tang J, Shelton B, Makhatadze NJ 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. Journal of Virology 76(2): 662–672.
    Thio CL, Thomas DL, Karacki P et al. (2003) Comprehensive analysis of class I and class II HLA antigens and chronic hepatitis B virus infection. Journal of Virology 77(22): 12083–12087.
    Tournamille C, Colin Y, Cartron JP et al. (1995) Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genetics 10(2): 224–228.
    Tripathy V and Reddy BM (2007) Present status of understanding on the G6PD deficiency and natural selection. Journal of Postgraduate Medicine 53(3): 193–202.
    Wang C, Tang J, Song W et al. (2004) HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination. Hepatology 39(4): 978–988.
 Further Reading
    book Bellamy R (2004) Susceptibility to Infectious Diseases. Cambridge: Cambridge University Press.
    Hill AV (2006) Aspects of genetic susceptibility to human infectious diseases. Annual Review of Genetics 40: 469–486.
    book Kaslow RA, McNicholl JM and Hill AVS (2008) Genetic Susceptibility to Infectious Diseases. New York: Oxford University Press.

Related Sub-Topics:

Infection | Selection and Variation | Human Evolution | Population Structure and Genetics | Inter-Individual Variation and Polymorphism
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Article Title: Susceptibility to Human Infectious Diseases, Genetics of
 
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Kaslow, Richard A, Shrestha, Sadeep, and Tang, Jianming ‘James’(May 2008) Susceptibility to Human Infectious Diseases, Genetics of. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020761]