The impact of host genetics on susceptibility to human infectious diseases

Current Opinion in Immunology

Volumn 9, Issue 4, 1997, Pages 509-516

  Abel, Laurent ^a   Dessein, Alain J ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETICS; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INFECTION SENSITIVITY; PATHOGENESIS; REVIEW; SCHISTOSOMIASIS;

EID: 0030880058     PISSN: 09527915     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0952-7915(97)80103-3     Document Type: Article

References (62)

1. Wakelin DM, Blackwell JM. Genetics of resistance to bacterial and parasitic infection. 1988;Taylor and Francis, London.
2. McLeod R, Buschman E, Arbuckle LD, Skamene E. Immunogenetics in the analysis of resistance to intracellular pathogens. Curr Opin Immunol. 7:1995;539-552.
3. Hill AVS. Genetics of infectious disease resistance. of special interest Curr Opin Genet Dev. 6:1996;348-353 A detailed review of the progress made in the analysis of genetic susceptibility to human infectious diseases during 1995-1996.
4. Nadeau JH, Arbuckle LD, aiSkamene E. Genetic dissection of inflammatory responses. J Inflamm. 45:1995;27-48.
5. Khoury MJ, Beaty TH, Cohen BH. Fundamentals of Genetic Epidemiology. 1993;Oxford University Press, New York.
6. Lander ES, Schork NJ. Genetic dissection of complex traits. Science. 265:1994;2037-2048.
7. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. of outstanding interest Nature. 380:1996;152-154 The latest version of the Généthon human linkage map which consists of 5,264 microsatellite markers, and provides an essential tool for mapping and identifying genes involved in complex traits such as human infectious diseases.
8. Miller LH. Impact of malaria on genetic polymorphism and genetic diseases in Africans and African Americans. Proc Natl Acad Sci USA. 91:1994;2415-2419.
9. Williams TN, Maitland K, Bennett S, Ganczakowski M, Peto TEA, Newbold CI, Bowden DK, Weatherall DJ, Clegg JB. High incidence of malaria in α-thalassemic children. of special interest Nature. 383:1996;522-525 This paper reports an increased incidence of uncomplicated malaria and a higher prevalence of splenomegaly in α-thalassaemic children. The authors suggest that this enhancement of red cell infections in α-thalassaemic children might result in the induction of an earlier immunisation against severe malaria disease.
10. Miller LH. Protective selective pressure. Nature. 383:1996;480-481.
11. Modiano D, Petrarca V, Sirima BS, Nebié I, Diallo D, Esposito F, Coluzzi M. Different response to Plasmodium falciparum malaria in West African sympatric ethnic groups. of special interest Proc Natl Acad Sci USA. 93:1996;13206-13211 Demonstrates clear interethnic differences in infection rates, malaria febrile episodes, and antibody responses to a major Plasmodium surface protein. These differences cannot be accounted for by already known malaria susceptibility factors, and suggest the role of unidentified genetic factors.
12. Jepson A, Banya W, Sisay-Joof F, Hassan-King M, Nunes C, Bennett S, Whittle H. Quantification of the relative contribution of major histocompatibility complex (MHC) and non-MHC genes to human immune responses to foreign antigens. of special interest Infect Immun. 65:1997;672-876 A remarkable twin study comparing monozygous to dizygous (according to their HLA haplotype identify) twins that shows that the regulation of the immune response to a variety of antigens from P. falciparum (and one from M. tuberculosis) is controlled by genetic factors lying within and outside the MHC, with a higher genetic contribution by nonMHC genes.
13. Abel L, Demenais F, Prata A, Souza AE, Dessein A. Evidence for the segregation of a major gene in human susceptibility/resistance to infection by Schistosoma mansoni. Am J Hum Genet. 48:1991;959-970.
14. Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, Feingold J, Weissenbach J, Dessein AJ. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. of outstanding interest Nat Genet. 14:1996;181-184 Linkage lod score analysis using a genome-wide search strategy that maps the locus controlling the intensity of infection by Schistosoma mansoni to chromosome 5q31-q33 in a Brazilian population.
15. Müller-Myhsok B, Stelma FF, Guissé-Sow F, Muntau B, Thye T, Burchard GD, Gryseels B, Horstmann RD. Further evidence suggesting the presence of a locus on human chromosome 5q31-q33 influencing the intensity of infection with Schistosoma mansoni. of special interest Am J Hum Genet. 1997; Nonparametric linkage analysis in a Senegalese population confirming the presence of a locus on human chromosome 5q31-q33 which influences the intensity of infection with Schistosoma mansoni.
16. Couissinier-Paris P, Dessein AJ. Schistosoma-specific helper T cell clones from subjects resistant to infection by Schistosoma mansoni are Th0/2. Eur J Immunol. 25:1995;2295-2302.
17. Rodrigues V, Abel L, Piper K, Dessein AJ. Segregation analysis indicates a major gene in the control of interleukine-5 production in humans infected with Schistosome mansoni. of special interest Am J Hum Genet. 59:1996;453-461 Evidence by segregation analysis for a major gene controlling IL-5 production by blood mononuclear cells in a Brazillian population infected with Schistosoma mansoni.
18. *0201. J Infect Dis. 174:1996;1131-1135.
19. Blackwell JM. Genetic susceptibility to leishmanial infections: studies in mice and man. of special interest Parasitology. 112:1996;S67-S74 Detailed review of five mouse chromosomic regions carrying leishmanial susceptibility genes with the corresponding homologous regions of the human genome.
20. Cabrera M, Shaw MA, Sharples C, Williams H, Castes M, Convit J, Blackwell JM. Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J Exp Med. 182:1995;1259-1294.
21. Goldfeld AE, Tsai EY. TNF-α and genetic susceptibility to parasitic disease. Exp Parasitol. 84:1996;300-303.
22. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation. Proc Natl Acad Sci USA. 94:1997;3195-3199.
23. McGuire W, Hill AVS, Allsopp CEM, Greenwood BM, Kwiatkowski D. Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria. Nature. 371:1994;508-511.
24. Blackwell JM, Barton CH, White JK, Roach TIA, Shaw MA, Whitehead SH, Mock BA, Searle S, Williams H, Baker AM. Genetic regulation of leishmanial and mycobacterial infections: the Lsh/Ity/Bcg gene story continues. Immunol Lett. 43:1994;99-107.
25. Vidal S, Malo D, Vogan K, Skamene E, Gros P. Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. Cell. 73:1993;469-486.
26. Malo D, Vogan K, Vidal S, Hu J, Cellier M, Schurr E, Fuks A, Bumstead N, Morgan K, Gros P. Haplotype mapping and sequence analysis of the mouse Nramp gene predicts susceptibility to infection with intracellular parasites. Genomics. 23:1994;51-61.
27. Govoni G, Vidal S, Gauthier E, Skamene E, Malo D, Gros P. The Bcg/Ity/Lsh locus - genetic transfer of resistance to infections in C57bl/6J mice transgenic for the Nramp1(Gly169) allele. of special interest Infect Immun. 64:1996;2923-2929 Demonstrates that the transfer of the 'resistant' Gly169 allele of Nramp1 in transgenic mice of susceptible (Asp169) background restores resistance to infection by intracellular parasites.
28. D169) mouse strains. of special interest J Immunol. 157:1996;3559-3568 Paper showing that the Gly169→Asp substitution in Nramp1 causes a complete disappearance of the mature Nramp1 protein suggesting that this mutation prevents proper maturation or membrane integration of the protein.
29. Gruenheid S, Pinner E, Desjardins M, Gros P. Natural resistance to infection with intracellular pathogens: the Nramp1 protein is recruited to the membrane of the phagosome. of special interest J Exp Med. 185:1997;717-730 Demonstrates that, upon phagocytosis, the Nramp1 protein is recruited to the membrane of the phagosome in macrophages and remains associated with this structure during phagolysosome maturation, suggesting that Nramp1 controls the replication of intracellular parasites by altering the intravacuolar environment of the microbe-containing phagosome.
30. Cellier M, Govoni G, Vidal S, Groulx N, Liu J, Sanchez F, Skamene E, Schurr E, Gros P. Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression. J Exp Med. 180:1994;1741-1752.
31. Liu J, Fujiwara M, Buu NT, Sanchez F, Cellier M, Paradis AJ, Frappier D, Skamene E, Gros P, Morgan K, Shurr E. Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene. Am J Hum Genet. 56:1995;845-853.
32. Cellier M, Shustik C, Dalton W, Rich E, Hu J, Malo D, Schurr E, Gros P. Expression of the human NRAMP1 gene in professional primary phagocytes: studies in blood cells and in HL-60 promyelocytic leukemia. of special interest J Leukocyte Biol. 61:1997;96-105 Shows that, in humans, the tissues with the highest expression of NRAMP1 are the peripheral blood leukocytes, the lung and the spleen. In blood, polymorphonuclear leukocytes are the major site of NRAMP1 expression followed, to a lesser degree, by monocytes.
33. Abel L, Lap VD, Oberti J, van Thuc N, Cua VV, Guilloud-Bataille M, Schurr E, Lagrange PH. Complex segregation analysis of leprosy in Vietnam. Genet Epidemiol. 12:1995;63-82.
34. Shaw MA, Atkinson S, Dockrell H, Hussain R, Lins-Lainson Z, Shaw J, Ramos F, Silveira F, Mehdi SQ, Kaukab F, et al. An RFLP map for 2q33-q37 from multicase mycobacterial and leishmanial disease families: no evidence for an Lsh/Ity/Bcg gene homologue influencing susceptibility to leprosy. Ann Hum Genet. 57:1993;251-271.
35. Levee G, Liu J, Gicquel B, Chanteau S, Schurr E. Genetic control of susceptibility to leprosy in French Polynesia; no evidence for linkage with markers on telomeric human chromosome 2. Int J Lepr. 62:1994;499-511.
36. Ottenhoff TH, de Vries RR. HLA class II immune response and suppression genes in leprosy. Int J Lepr Other Mycobact Dis. 55:1987;521-534.
37. Visentainer JEL, Tsuneto LT, Serra MF, Peixoto PRF, Petzl-Erler ML. Association of leprosy with HLA-DR2 in Southern Brazilian population. Braz J Med Biol Res. 30:1997;51-59.
38. *1404. The authors suggest that the presence of a positive charge generated by arginine at position 13 primarily, or at positions 70 and 71 secondarily, may influence a critical site within the binding groove of the DR chain that affects peptide binding and/or T cell interactions in the immune response associated with tuberculoid leprosy.
39. Rajalingam R, Mehra NK, Jain RC, Myneedu VP, Pande JN. Polymerase chain reaction-based sequence specific oligonucleotide hybridization analysis of HLA class II antigens in pulmonary tuberculosis: relevance to chemotherapy and disease severity. J Infect Dis. 173:1996;669-676.
40. Levin M, Newport MJ, D'Souza S, Kalabalikis P, Brown IN, Lenicker HM, Agius PV, Davies EG, Thrasher A, Klein N, Blackwell JM. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene. Lancet. 345:1995;79-83.
41. Casanova JL, Jouanguy E, Lamhamedi S, Blanche S, Fisher A. Immunological conditions of children with disseminated BCG infection. Lancet. 346:1995;581.
42. Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F, Stephan JL, Bernaudin F, Bordigoni P, Turck D, et al. Idiopathic disseminated Bacillus Calmette-Guérin infection: a French national retrospective study. Pediatrics. 98:1996;774-778.
43. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 236:1987;1567-1570.
44. Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M. A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection. of outstanding interest N Engl J Med. 335:1996;1941-1949 This paper, along with [45], demonstrates that mutations in the IFN-γR1 gene are causative of severe disseminated infection due to weakly pathogenic mycobacteria.
45. Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fisher A, Casanova JL. Interferon-γ-receptor deficiency in an infant with fatal Bacille Calmette-Guérin infection. of outstanding interest N Engl J Med. 335:1996;1956-1960 See annotation [44].
46. Pierre-Audigier C, Jouanguy E, Lamhamedi S, Altare F, Rauzier J, Vincent V, Canioni D, Emile JF, Fisher A, Blanche S, et al. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin Infect Dis. 24:1997;982-985. of special interest.
47. Casanova JL, Newport M, Fisher A, Levin M. Inherited Interferon gamma receptor deficiency. Ochs H, Puck J, Smith C. Primary Immunodeficiencies: a Molecular and Genetic Approach. 1997;Oxford University Press, New York, Excellent review of inherited interferon-γ-receptor deficiency.
48. Haynes BF, Pantaleo G, Fauci AS. Toward an understanding of the correlates of protective immunity to HIV infection. of special interest Science. 271:1996;324-328 Detailed review (before the identification of the CCR5Δ32 deletion) of the genetic (particularly the HLA system), and the virologic factors involved in the immune response to HIV infection.
49. Fauci AS. Host factors and the pathogenesis of HIV-induced disease. of special interest Nature. 384:1996;529-534 Excellent review (after the identification of the role of the CCR5Δ32 deletion) of the host factors (particularly endogenous cytokines) involved in the pathogenesis of HIV-induced disease.
50. Kaslow RA, Carrington M, Apple R, Park L, Munoz A, Saah AJ, Goedert JJ, Winkler C, O'Brien SJ, Rinaldo C, et al. Influence of combinations of human major histocompatibility complex genes on the course of HIV-1 infection. of special interest Nat Med. 2:1996;405-411 Survival analysis defining HLA profiles on the basis of MHC gene combinations that predict the time from HIV-1 infection to the onset of AIDS. There is a sixfold difference between groups with the shortest and the longest times to the disease.
51. Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, Horuk R, MacDonald ME, Stuhlmann H, Koup RA, Landau NR. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. of outstanding interest Cell. 86:1996;367-377 Demonstrates, along with [52,53], that individuals homozygous for the CCR5Δ32 deletion are resistant to HIV-1 infection. In addition, shows, along with [52], that the truncated encoded receptor cannot be detected at the cell surface and so prevents viral invasion.
52. Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, Saragosti S, Lapouméroulie C, Cognaux J, Forceille C, et al. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR5 chemokine receptor gene. of outstanding interest Nature. 382:1996;722-725 See annotation [51]. No CCR5Δ32 homozygotes are found in a cohort of HIV-1 infected caucasian subjects whereas the frequency of the mutation is around 0.09 in caucasian populations. The study also shows that CCR5Δ32 is absent in populations from Japan and Western and Central Africa. See also [54].
53. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R, Goedert JJ, Buchbinder SP, Vittinghoff E, Gomperts E, et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. of outstanding interest Science. 273:1996;1856-1861 See annotation [51]. As in [52], no CCR5Δ32 homozygotes are found in different cohorts of HIV-1 infected caucasian subjects. The study also shows a protective effect of CCR5Δ32 against disease progression in HIV-1 infected heterozygous subjects. The allelic frequency of CCR5Δ32 was found to be 0.11 in Caucasians and below 0.02 in African Americans. See also [54].
54. Huang Y, Paxton WA, Wolinsky SM, Neumann AU, Zhang L, He T, Kang S, Ceradini D, Jin Z, Yazdanbakhsh K, et al. The role of a mutant CCR5 allele in HIV-1 transmission and disease progression. of special interest Nat Med. 2:1996;1240-1243 Confirms the resistance to HIV-1 infection conferred upon individuals homozygous for CCR5Δ32 in another cohort study (see [52,53]), and finds a limited protective role for CCR5Δ32 against disease progression in seropositive heterozygous subjects. The frequency of this allele was found to be 0.08 in Caucasians.
55. Biti R, Ffrench R, Young J, Bennets B, Stewart G. HIV-1 infection in an individual homozygous for the CCR5 deletion allele. Nat Med. 3:1997;252-253.
56. O'Brien T, Winkler C, Dean M, Nelson JEA, Carrington M, Michael NL, White GC II. HIV-1 infection in a man homozygous for CCR5Δ32. Lancet. 349:1997;1219.
57. Theodorou I, Meyer L, Magierowska M, Katlama C, Rouzioux C. HIV-1 infection in an individual homozygous for CCR5Δ32. and the Seroco Study Group Lancet. 349:1997;1219-1220.
58. Michael NL, Chang G, Leslie GL, Mascola JR, Dondero D, Birx DL, Sheppard HW. The role of viral phenotype and CCR5 gene defects in HIV-1 transmission and disease progression. of special interest Nat Med. 3:1997;338-340 A paper showing that the protective effect of the CCR5Δ32 allele against disease progression in HIV-1 infected heterozygous subjects depends upon the virus strain, with a higher survival advantage for the macrophage-tropic, as oppose to the T cell tropic, virus.
59. Eugen-Olsen J, Iversen AKN, Garred P, Koppelhus U, Pedersen C, Benfield TL, Sorensen AM, Katzenstein T, Dickmeiss E, Gerstoft J, et al. Heterozygosity for a deletion in the CKR-5 gene leads to prolonged AIDS-free survival and slower CD4 T-cell decline in a cohort of HIV-seropositive individuals. AIDS. 11:1997;305-310.
60. Rappaport J, Cho YY, Hendel H, Scwartz EJ, Schachter F, Zagury JF. 32 bp CCR5 gene deletion and resistance to fast progression in HIV-1 infected heterozygotes. Lancet. 349:1997;922-923.
61. Martison JJ, Chapman NH, Rees DC, Liu YT, Clagg JB. Global distribution of the CCR5 gene 32-basepair deletion. of special interest Nat Genet. 16:1997;100-103 Shows the global distribution of the CCR5Δ32 deletion throughout the world.
62. Garred P, Madsen HO, Balslev U, Hofmann B, Pedersen C, Gerstoft J, Svejgaard A. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. of special interest Lancet. 349:1997;236-240 Association study finding that homozygous carriers of mannose binding lectin gene variant alleles are at increased risk of HIV infection. These alleles are also associated with a shorter survival time after AIDS diagnosis.