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Chapter 26 : Immunogenetics of the Host Response to Bacteria and Parasites in Humans

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Abstract:

The role of genetic factors in common infectious diseases can be investigated by the analysis of several complementary traits. These traits include clinical phenotypes, which are generally binary (i.e., affected or unaffected); biological phenotypes, such as measures of infection, which may be quantitative (e.g., fecal egg counts in schistosomiasis) or binary (seropositive/seronegative); and measures of the immune response. Sections in this chapter focus on the main findings obtained in studies of susceptibility or resistance to mycobacterial and certain parasitic infections. Tuberculosis and leprosy, the most common human mycobacterial diseases, are caused by and , respectively. Many studies of familial aggregation, twin studies, and segregation analyses have clearly shown that leprosy susceptibility has a significant genetic component. Association studies between leprosy and HLA have provided other lines of evidence for the role of genetic factors in diseases caused by . In tuberculoid leprosy, the most consistent results were obtained for HLA-DR2. Segregation analyses on malaria infection levels have been performed in populations from Cameroon and Burkina Faso. Infection levels were assessed by multiple measurements of parasitemia, and the data were adjusted for factors known to influence parasitemia, such as season, area of residence, and age of the subject.

Citation: Abel L, Casanova J. 2002. Immunogenetics of the Host Response to Bacteria and Parasites in Humans, p 395-406. In Kaufmann S, Sher A, Ahmed R (ed), Immunology of Infectious Diseases. ASM Press, Washington, DC. doi: 10.1128/9781555817978.ch26

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Summary of the methods and strategies used to identify the genes and genetic polymorphisms involved in human infectious diseases. The genetic etiology of rare Mendelian disorders can be determined by several strategies. Linkage analysis is usually the first step in the positional cloning approach, although the identification of visible cytogenetic rearrangements can be of great help in the mapping of the gene. Another strategy, known as the candidate gene approach (“by hypothesis”), involves the prior selection of genes (from animal models or in vitro experiments), which are then tested by functional arrays and/or mutation detection. Another promising strategy, which may be more fruitful in the future, is based on analysis of the differential expressions of genes in tissues from affected and healthy individuals. In common infectious diseases, linkage studies (model based or model free) are used to search for a chromosomal region that segregates nonrandomly with the infectious disease-related phenotype within families. The role of polymorphisms of candidate genes located within this candidate region is tested by population-based or family-based association studies. Candidate genes by hypothesis can also be chosen on the basis of their function or homology to animal loci. Evidence for an association should be validated by functional studies to determine whether the detected polymorphism modifies gene expression or the gene product in a manner that may affect susceptibility to the disease.

Citation: Abel L, Casanova J. 2002. Immunogenetics of the Host Response to Bacteria and Parasites in Humans, p 395-406. In Kaufmann S, Sher A, Ahmed R (ed), Immunology of Infectious Diseases. ASM Press, Washington, DC. doi: 10.1128/9781555817978.ch26
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References

/content/book/10.1128/9781555817978.chap26
1. Abel, L.,, M. Cot,, L. Mulder,, P. Carnevale,, and J. Feingold. 1992. Segregation analysis detects a major gene controlling blood infection levels in human malaria. Am. J. Hum. Genet. 50:13081317.
2. Abel, L.,, and F. Demenais. 1988. Detection of major genes for susceptibility to leprosy and its subtypes in a Caribbean island: Desirade Island. Am. J. Hum. Genet. 42:256266.
3. Abel, L.,, F. Demenais,, A. Prata,, A. E. Souza,, and A. Dessein. 1991. Evidence for the segregation of a major gene in human susceptibility / resistance to infection by Schistosoma mansoni. Am. J. Hum. Genet. 48:959970.
4. Abel, L.,, and A. J. Dessein. 1997. The impact of host genetics on susceptibility to human infectious diseases. Curr. Opin. Immunol. 9:509516.
5. Abel, L.,, and A. J. Dessein. 1998. Genetic epidemiology of infectious diseases in humans: design of population-based studies. Emerg. Infect. Dis. 4:593603.
6. Abel, L.,, V. D. Lap,, J. Oberti,, N. V. Thuc,, V. V. Cua,, M. Guilloud- Bataille,, E. Schurr,, and P. H. Lagrange. 1995. Complex segregation analysis of leprosy in southern Vietnam. Genet. Epidemiol. 12:6382.
7. Abel, L.,, and B. Muller-Myhsok. 1998. Maximum-likelihood expression of the transmission / disequilibrium test and power considerations. Am. J. Hum. Genet. 63:664667.
8. Abel, L.,, F. O. Sanchez,, J. Oberti,, N. V. Thuc,, L. V. Hoa,, V. D. Lap,, E. Skamene,, P. H. Lagrange,, and E. Schurr. 1998. Susceptibility to leprosy is linked to the human NRAMP1 gene. J. Infect. Dis. 177:133145.
9. Alcais, A.,, F. O. Sanchez,, N. V. Thuc,, V. D. Lap,, J. Oberti,, P. H. Lagrange,, E. Schurr,, and L. Abel. 2000. Granulomatous reaction to intradermal injection of lepromin (Mitsuda reaction) is linked to the human NRAMP1 gene in Vietnamese leprosy sibships. J. Infect. Dis. 181:302308.
10. Allen, S. J.,, A. O’Donnell,, N. D. Alexander,, M. P. Alpers,, T. E. A. Peto,, J. B. Clegg,, and D. J. Weatherall. 1997. Alpha_- Thalassemia protects children against disease caused by other infections as well as malaria. Proc. Natl. Acad. Sci. USA 94: 1473614741.
11. Altare, F.,, A. Durandy,, D. Lammas,, J. F. Emile,, S. Lamhamedi,, F. Le Deist,, P. Drysdale,, E. Jouanguy,, R. Doffinger,, F. Bernaudin,, O. Jeppsson,, J. A. Gollob,, E. Meinl,, A. W. Segal,, A. Fischer,, D. Kumararatne,, and J. L. Casanova. 1998a. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280:14321435.
12. Altare, F.,, E. Jouanguy,, S. Lamhamedi,, R. Doffinger,, A. Fischer,, and J. L. Casanova. 1998b. Mendelian susceptibility to mycobacterial infection in man. Curr. Opin. Immunol. 10:413417.
13. Altare, F.,, D. Lammas,, P. Revy,, E. Jouanguy,, R. Doffinger,, S. Lamhamedi,, P. Drysdale,, D. Scheel-Toellner,, J. Girdlestone,, P. Darbyshire,, M. Wadhwa,, H. Dockrell,, M. Salmon,, A. Fischer,, A. Durandy,, J. L. Casanova,, and D. S. Kumararatne. 1998c. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J. Clin. Investig. 102:20352040.
14. Barnwell, J. W.,, M. E. Nichols,, and P. Rubinstein. 1989. In vitro evaluation of the role of the Duffy blood group in erythrocyte invasion by Plasmodium vivax. J. Exp. Med. 169:17951802.
15. Bellamy, R.,, C. Ruwende,, T. Corrah,, K. P. McAdam,, M. Thursz,, H. C. Whittle,, and A. V. Hill. 1999. Tuberculosis and chronic hepatitis B virus infection in Africans and variation in the vitamin D receptor gene. J. Infect. Dis. 179:721724.
16. Bellamy, R.,, C. Ruwende,, T. Corrah,, K. P. McAdam,, H. C. Whittle,, and A. V. Hill. 1998. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N. Engl. J. Med. 338:640644.
17. Blackwell, J. M.,, G. F. Black,, C. S. Peacock,, E. N. Miller,, D. Sibthorpe,, D. Gnananandha,, J. J. Shaw,, F. Silveira,, Z. Lins- Lainson,, F. Ramos,, A. Collins,, and M. A. Shaw. 1997. Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study. Philos. Trans. R. Soc. London Ser. B 352: 13311345.
18. Blackwell, J. M.,, G. F. Black,, C. Sharples,, S. S. Soo,, C. S. Peacock,, and N. Miller. 1999. Roles of Nramp1, HLA, and a gene(s) in allelic association with IL-4, in determining T helper subset differentiation. Microbes Infect. 1:95102.
19. Canonne-Hergaux, F.,, S. Gruenheid,, G. Govoni,, and P. Gros. 1999. The Nramp1 protein and its role in resistance to infection and macrophage function. Proc. Assoc. Am. Physicians 111:283289.
20. Casanova, J. L.,, S. Blanche,, J. F. Emile,, E. Jouanguy,, S. Lamhamedi,, F. Altare,, J. L. Stephan,, F. Bernaudin,, P. Bordigoni,, D. Turck,, A. Lachaux,, M. Albertini,, A. Bourrillon,, J. P. Dommergues,, M. A. Pocidalo,, F. Le Deist,, J. L. Gaillard,, C. Griscelli,, and A. Fischer. 1996. Idiopathic disseminated bacillus Calmette- Guerin infection: a French national retrospective study. Pediatrics 98:774778.
21. Casanova, J. L.,, E. Jouanguy,, S. Lamhamedi,, S. Blanche,, and A. Fischer. 1995. Immunological conditions of children with BCG disseminated infection. Lancet 346:581.
22. Casanova, J. L.,, M. Newport,, A. Fischer,, and M. Levin,. 1999. Inherited interferon gamma receptor deficiency, p. 209221. In H. D. Ochs,, E. Smith,, and J. Puck (ed.), Primary Immunodeficiency Diseases: a Molecular and Genetic Approach. Oxford University Press, New York, N.Y..
23. Cellier, M.,, G. Govoni,, S. Vidal,, T. Kwan,, N. Groulx,, J. Liu,, F. Sanchez,, E. Skamene,, E. Schurr,, and P. Gros. 1994. Human natural resistance-associated macrophage protein: cDNA cloning, chromosomal mapping, genomic organization, and tissue-specific expression. J. Exp. Med. 180:17411752.
24. Collins, F. S. 1995. Positional cloning moves from perditional to traditional. Nat. Genet. 9:347350.
25. Couissinier-Paris, P.,, and A. J. Dessein. 1995. Schistosoma-specific helper T cell clones from subjects resistant to infection by Schistosoma mansoni are Th0/2. Eur. J. Immunol. 25:22952302.
26. de Jong, R.,, F. Altare,, I. A. Haagen,, D. G. Elferink,, T. Boer,, P. J. van Breda Vriesman,, P. J. Kabel,, J. M. Draaisma,, J. T. van Dissel,, F. P. Kroon,, J. L. Casanova,, and T. H. Ottenhoff. 1998. Severe mycobacterial and Salmonella infections in interleukin- 12 receptor-deficient patients. Science 280:14351438.
27. Dessein, A. J.,, D. Hillaire,, N. E. Elwali,, S. Marquet,, Q. Mohamed- Ali,, A. Mirghani,, S. Henri,, A. A. Abdelhameed,, O. K. Saeed,, M. M. Magzoub,, and L. Abel. 1999. Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene. Am. J. Hum. Genet. 65:709721.
28. Dib, C.,, S. Faure,, C. Fizames,, D. Samson,, N. Drouot,, A. Vignal,, P. Millasseau,, S. Marc,, J. Hazan,, E. Seboun,, M. Lathrop,, G. Gyapay,, J. Morissette,, and J. Weissenbach. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152154.
29. Dieye, A.,, C. Rogier,, J. F. Trape,, J. L. Sarthou,, and P. Druilhe. 1997. HLA class I-associated resistance to severe malaria: a parasitological re-assessment. Parasitol. Today 13:4849.
30. Doffinger, R.,, E. Jouanguy,, S. Dupuis,, M. C. Fondaneche,, J. L. Stephan,, J. F. Emile,, S. Lamhamedi-Cherradi,, F. Altare,, A. Pallier,, G. Barcenas-Morales,, E. Meinl,, C. Krause,, S. Pestka,, R. D. Schreiber,, F. Novelli,, and J. L. Casanova. 2000. Partial interferon- gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection. J. Infect. Dis. 181:379384.
31. Dorman, S. E.,, and S. M. Holland. 1998. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J. Clin. Investig. 101:2364 2369.
32. Dye, C.,, S. Scheele,, P. Dolin,, V. Pathania,, and M. C. Raviglione. 1999. Consensus statement. Global burden of tuberculosis: estimated incidence, prevalence, and mortality by country. WHO Global Surveillance and Monitoring Project. JAMA 282:677 686.
33. Emile, J. F.,, N. Patey,, F. Altare,, S. Lamhamedi,, E. Jouanguy,, F. Boman,, J. Quillard,, M. Lecomte-Houcke,, O. Verola,, J. F. Mousnier,, F. Dijoud,, S. Blanche,, A. Fischer,, N. Brousse,, and J. L. Casanova. 1997. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. J. Pathol. 181:2530.
34. Fine, P. E. 1981. Immunogenetics of susceptibility to leprosy, tuberculosis, and leishmaniasis. An epidemiological perspective. Int. J. Lepr. Other Mycobact. Dis. 49:437454.
35. Foote, S. J.,, R. A. Burt,, T. M. Baldwin,, A. Presente,, A. W. Roberts,, Y. L. Laural,, A. M. Lew,, and V. M. Marshall. 1997. Mouse loci for malaria-induced mortality and the control of parasitaemia. Nat. Genet. 17:380381.
36. Fortin, A.,, A. Belouchi,, M. F. Tam,, L. Cardon,, E. Skamene,, M. M. Stevenson,, and P. Gros. 1997. Genetic control of blood parasitaemia in mouse malaria maps to chromosome 8. Nat. Genet. 17:382383.
37. Frucht, D. M.,, and S. M. Holland. 1996. Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation. J. Immunol. 157:411416.
38. Garcia, A.,, M. Cot,, J. P. Chippaux,, S. Ranque,, J. Feingold,, F. Demenais,, and L. Abel. 1998a. Genetic control of blood infection levels in human malaria: evidence for a complex genetic model. Am. J. Trop. Med. Hyg. 58:480488.
39. Garcia, A.,, S. Marquet,, B. Bucheton,, D. Hillaire,, M. Cot,, N. Fievet,, A. J. Dessein,, and L. Abel. 1998b. Linkage analysis of blood Plasmodium falciparum levels: interest of the 5q31-q33 chromosome region. Am. J. Trop. Med. Hyg. 58:705709.
40. Gilbert, S. C.,, M. Plebanski,, S. Gupta,, J. Morris,, M. Cox,, M. Aidoo,, D. Kwiatkowski,, B. M. Greenwood,, H. C. Whittle,, and A. V. Hill. 1998. Association of malaria parasite population structure, HLA, and immunological antagonism. Science 279: 11731177.
41. Goldfeld, A. E.,, J. C. Delgado,, S. Thim,, M. V. Bozon,, A. M. Uglialoro,, D. Turbay,, C. Cohen,, and E. J. Yunis. 1998. Association of an HLA-DQ allele with clinical tuberculosis. JAMA 279:226228.
42. Goldfeld, A. E.,, and E. Y. Tsai. 1996. TNF-alpha and genetic susceptibility to parasitic disease. Exp. Parasitol. 84:300303.
43. Govoni, G.,, S. Vidal,, S. Gauthier,, E. Skamene,, D. Malo,, and P. Gros. 1996. The Bcg/ Ity /Lsh locus: genetic transfer of resistance to infections in C57BL/6J mice transgenic for the Nramp1 Gly169 allele. Infect. Immun. 64:29232929.
44. Hill, A. V. 1998. The immunogenetics of human infectious diseases. Annu. Rev. Immunol. 16:593617.
45. Hill, A. V.,, C. E. Allsopp,, D. Kwiatkowski,, N. M. Anstey,, P. Twumasi,, P. A. Rowe,, S. Bennett,, D. Brewster,, A. J. Mc- Michael,, and B. M. Greenwood. 1991. Common west African HLA antigens are associated with protection from severe malaria. Nature 352:595600.
46. Hill, A. V.,, J. Elvin,, A. C. Willis,, M. Aidoo,, C. E. Allsopp,, F. M. Gotch,, X. M. Gao,, M. Takiguchi,, B. M. Greenwood,, A. R. Townsend,, A. J. McMichael,, and H. C. Whittle. 1992. Molecular analysis of the association of HLA-B53 and resistance to severe malaria. Nature 360:434439.
47. Holland, S. M.,, S. E. Dorman,, A. Kwon,, I. F. Pitha-Rowe,, D. M. Frucht,, S. M. Gerstberger,, G. J. Noel,, P. Vesterhus,, M. R. Brown,, and T. A. Fleisher. 1998. Abnormal regulation of interferon- gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. J. Infect. Dis. 178:10951104.
48. Iwamoto, S.,, T. Omi,, E. Kajii,, and S. Ikemoto. 1995. Genomic organization of the glycoprotein D gene: Duffy blood group Fya/Fyb alloantigen system is associated with a polymorphism at the 44-amino acid residue. Blood 85:622626.
49. Jacobson, R. R.,, and J. L. Krahenbuhl. 1999. Leprosy. Lancet 353: 655660.
50. Jepson, A.,, W. Banya,, F. Sisay-Joof,, M. Hassan-King,, C. Nunes,, S. Bennett,, and H. Whittle. 1997. Quantification of the relative contribution of major histocompatibility complex (MHC) and non-MHC genes to human immune responses to foreign antigens. Infect. Immun. 65:872876.
51. Jouanguy, E.,, F. Altare,, S. Lamhamedi,, P. Revy,, J. F. Emile,, M. Newport,, M. Levin,, S. Blanche,, E. Seboun,, A. Fischer,, and J. L. Casanova. 1996. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N. Engl. J. Med. 335:19561961.
52. Jouanguy, E.,, R. Doffinger,, S. Dupuis,, A. Pallier,, F. Altare,, and J. L. Casanova. 1999a. IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men. Curr. Opin. Immunol. 11:346351.
53. Jouanguy, E.,, S. Dupuis,, A. Pallier,, R. Doffinger,, M. C. Fondaneche,, C. Fieschi,, S. Lamhamedi-Cherradi,, F. Altare,, J. F. Emile,, P. Lutz,, P. Bordigoni,, H. Cokugras,, N. Akcakaya,, J. Landman- Parker,, J. Donnadieu,, Y. Camcioglu,, and J. L. Casanova. 2000. In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J. Clin. Investig. 105:1429 1436.
54. Jouanguy, E.,, S. Lamhamedi-Cherradi,, F. Altare,, M. C. Fondaneche,, D. Tuerlinckx,, S. Blanche,, J. F. Emile,, J. L. Gaillard,, R. Schreiber,, M. Levin,, A. Fischer,, C. Hivroz,, and J. L. Casanova. 1997. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J. Clin. Investig. 100:26582664.
55. Jouanguy, E.,, S. Lamhamedi-Cherradi,, D. Lammas,, S. E. Dorman,, M. C. Fondaneche,, S. Dupuis,, R. Doffinger,, F. Altare,, J. Girdlestone,, J. F. Emile,, H. Ducoulombier,, D. Edgar,, J. Clarke,, V. A. Oxelius,, M. Brai,, V. Novelli,, K. Heyne,, A. Fischer,, S. M. Holland,, D. S. Kumararatne,, R. D. Schreiber,, and J. L. Casanova. 1999b. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat. Genet. 21:370378.
56. Khoury, M. J.,, T. H. Beaty,, and B. H. Cohen. 1993. Fundamentals of genetic epidemiology. Monogr. Epidemiol. Biostat. 19:1 448.
57. Knight, J. C.,, I. Udalova,, A. V. Hill,, B. M. Greenwood,, N. Peshu,, K. Marsh,, and D. Kwiatkowski. 1999. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat. Genet. 22:145150.
58. Kruglyak, L. 1999. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22:139144.
59. Lander, E. S.,, and N. J. Schork. 1994. Genetic dissection of complex traits. Science 265:20372048.
60. Levee, G.,, J. Liu,, B. Gicquel,, S. Chanteau,, and E. Schurr. 1994. Genetic control of susceptibility to leprosy in French Polynesia; no evidence for linkage with markers on telomeric human chromosome 2. Int. J. Lepr. Other Mycobact. Dis. 62:499511.
61. Levin, M.,, M. J. Newport,, S. D’Souza,, P. Kalabalikis,, I. N. Brown,, H. M. Lenicker,, P. V. Agius,, E. G. Davies,, A. Thrasher,, N. Klein,, and J. M. Blackwell. 1995. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet 345:7983.
62. Malo, D.,, K. Vogan,, S. Vidal,, J. Hu,, M. Cellier,, E. Schurr,, A. Fuks,, N. Bumstead,, K. Morgan,, and P. Gros. 1994. Haplotype mapping and sequence analysis of the mouse Nramp gene predict susceptibility to infection with intracellular parasites. Genomics 23:5161.
63. Marquet, S.,, L. Abel,, D. Hillaire,, and A. Dessein. 1999. Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Eur. J. Hum. Genet. 7:8897.
64. Marquet, S.,, L. Abel,, D. Hillaire,, H. Dessein,, J. Kalil,, J. Feingold,, J. Weissenbach,, and A. J. Dessein. 1996. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat. Genet. 14:181184.
65. Marsh, D. G.,, J. D. Neely,, D. R. Breazeale,, B. Ghosh,, L. R. Freidhoff,, E. Ehrlich-Kautzky,, C. Schou,, G. Krishnaswamy,, and T. H. Beaty. 1994. Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 264:11521156.
66. McGuire, W.,, A. V. Hill,, C. E. Allsopp,, B. M. Greenwood,, and D. Kwiatkowski. 1994. Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature 371:508510.
67. McKusick, V. A. 1998. Mendelian Inheritance in Man. Johns Hopkins University Press, Baltimore, Md..
68. McLeod, R.,, E. Buschman,, L. D. Arbuckle,, and E. Skamene. 1995. Immunogenetics in the analysis of resistance to intracellular pathogens. Curr. Opin. Immunol. 7:539552.
69. Meyers, D. A.,, D. S. Postma,, C. I. Panhuysen,, J. Xu,, P. J. Amelung,, R. C. Levitt,, and E. R. Bleecker. 1994. Evidence for a locus regulating total serum IgE levels mapping to chromosome 5. Genomics 23:464470.
70. Miller, L. H. 1994. Impact of malaria on genetic polymorphism and genetic diseases in Africans and African Americans. Proc. Natl. Acad. Sci. USA 91:24152419.
71. Miller, L. H.,, S. J. Mason,, D. F. Clyde,, and M. H. McGinniss. 1976. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N. Engl. J. Med. 295:302 304.
72. Misra, N.,, A. Murtaza,, B. Walker,, N. P. Narayan,, R. S. Misra,, V. Ramesh,, S. Singh,, M. J. Colston,, and I. Nath. 1995. Cytokine profile of circulating T cells of leprosy patients reflects both indiscriminate and polarized T-helper subsets: T-helper phenotype is stable and uninfluenced by related antigens of Mycobacterium leprae. Immunology 86:97103.
73. Modiano, D.,, V. Petrarca,, B. S. Sirima,, I. Nebie,, D. Diallo,, F. Esposito,, and M. Coluzzi. 1996. Different response to Plasmodium falciparum malaria in west African sympatric ethnic groups. Proc. Natl. Acad. Sci. USA 93:1320613211.
74. Mohamed-Ali, Q.,, N. E. Elwali,, A. A. Abdelhameed,, A. Mergani,, S. Rahoud,, K. E. Elagib,, O. K. Saeed,, L. Abel,, M. M. Magzoub,, and A. J. Dessein. 1999. Susceptibility to periportal (Symmers) fibrosis in human Schistosoma mansoni infections: evidence that intensity and duration of infection, gender, and inherited factors are critical in disease progression. J. Infect. Dis. 180:12981306.
75. Morton, N. E. 1955. Sequential tests for the detection of linkage. Am. J. Hum. Genet. 7:277318.
76. Muller-Myhsok, B.,, and L. Abel. 1997. Genetic analysis of complex diseases. Science 275:13281329.
77. Muller-Myhsok, B.,, F. F. Stelma,, F. Guisse-Sow,, B. Muntau,, T. Thye,, G. D. Burchard,, B. Gryseels,, and R. D. Horstmann. 1997. Further evidence suggesting the presence of a locus, on human chromosome 5q31-q33, influencing the intensity of infection with Schistosoma mansoni. Am. J. Hum. Genet. 61:452454.
78. Nagel, R. L.,, and E. F. Roth, Jr. 1989. Malaria and red cell genetic defects. Blood 74:12131221.
79. Newport, M. J.,, C. M. Huxley,, S. Huston,, C. M. Hawrylowicz,, B. A. Oostra,, R. Williamson,, and M. Levin. 1996. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 335:19411949.
80. Ott, J. 1999. Analysis of Human Genetic Linkage. Johns Hopkins University Press, Baltimore, Md..
81. Ottenhoff, T. H.,, and R. R. de Vries. 1987. HLA class II immune response and suppression genes in leprosy. Int. J. Lepr. Other Mycobact. Dis. 55:521534.
82. Pierre-Audigier, C.,, E. Jouanguy,, S. Lamhamedi,, F. Altare,, J. Rauzier,, V. Vincent,, D. Canioni,, J. F. Emile,, A. Fischer,, S. Blanche,, J. L. Gaillard,, and J. L. Casanova. 1997. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin. Infect. Dis. 24:982984.
83. Postma, D. S.,, E. R. Bleecker,, P. J. Amelung,, K. J. Holroyd,, J. Xu,, C. I. Panhuysen,, D. A. Meyers,, and R. C. Levitt. 1995. Genetic susceptibility to asthma—bronchial hyperresponsiveness coinherited with a major gene for atopy. N. Engl. J. Med. 333:894900.
84. Rihet, P.,, L. Abel,, Y. Traore,, T. Traore-Leroux,, C. Aucan,, and F. Fumoux. 1998a. Human malaria: segregation analysis of blood infection levels in a suburban area and a rural area in Burkina Faso. Genet. Epidemiol. 15:435450.
85. Rihet, P.,, Y. Traore,, L. Abel,, C. Aucan,, T. Traore-Leroux,, and F. Fumoux. 1998b. Malaria in humans: Plasmodium falciparum blood infection levels are linked to chromosome 5q31-q33. Am. J. Hum. Genet. 63:498505.
86. Rioux, J. D.,, V. A. Stone,, M. J. Daly,, M. Cargill,, T. Green,, H. Nguyen,, T. Nutman,, P. A. Zimmerman,, M. A. Tucker,, T. Hudson,, A. M. Goldstein,, E. Lander,, and A. Y. Lin. 1998. Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am. J. Hum. Genet. 63:10861094.
87. Rodrigues, V., Jr., L. Abel, K. Piper, and A. J. Dessein. 1996. Segregation analysis indicates a major gene in the control of interleukine-5 production in humans infected with Schistosoma mansoni. Am. J. Hum. Genet. 59:453461.
88. Rodrigues, V., Jr., K. Piper, P. Couissinier-Paris, O. Bacelar, H. Dessein, and A. J. Dessein. 1999. Genetic control of schistosome infections by the SM1 locus of the 5q31-q33 region is linked to differentiation of type 2 helper T lymphocytes. Infect. Immun. 67:46894692.
89. Roesler, J.,, B. Kofink,, J. Wendisch,, S. Heyden,, D. Paul,, W. Friedrich,, J. L. Casanova,, W. Leupold,, M. Gahr,, and A. Rosen-Wolff. 1999. Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma- receptor (IFNγR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp. Hematol. 27:13681374.
90. Roy, S.,, A. Frodsham,, B. Saha,, S. K. Hazra,, C. G. Mascie-Taylor,, and A. V. Hill. 1999. Association of vitamin D receptor genotype with leprosy type. J. Infect. Dis. 179:187191.
91. Ruwende, C.,, S. C. Khoo,, R. W. Snow,, S. N. Yates,, D. Kwiatkowski,, S. Gupta,, P. Warn,, C. E. Allsopp,, S. C. Gilbert,, N. Peschu,, C. I. Newbold,, B. M. Greenwood,, K. Marsh,, and A. V. S. Hill. 1995. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature 376:246249.
92. Sansonetti, P.,, and P. H. Lagrange. 1981. The immunology of leprosy: speculations on the leprosy spectrum. Rev. Infect. Dis. 3:422469.
93. Shaw, M. A.,, S. Atkinson,, H. Dockrell,, R. Hussain,, Z. Lins- Lainson,, J. Shaw,, F. Ramos,, F. Silveira,, S. Q. Mehdi,, F. Kaukab,, S. Khaliq,, T. Chiang,, and J. Blackwell. 1993. 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. 57:251271.
94. Shaw, M. A.,, A. Collins,, C. S. Peacock,, E. N. Miller,, G. F. Black,, D. Sibthorpe,, Z. Lins-Lainson,, J. J. Shaw,, F. Ramos,, F. Silveira,, and J. M. Blackwell. 1997. Evidence that genetic susceptibility to Mycobacterium tuberculosis in a Brazilian population is under oligogenic control: linkage study of the candidate genes NRAMP1 and TNFA. Tubercle Lung Dis. 78:3545.
95. Sjoberg, K.,, J. P. Lepers,, L. Raharimalala,, A. Larsson,, O. Olerup,, N. T. Marbiah,, M. Troye-Blomberg,, and P. Perlmann. 1992. Genetic regulation of human anti-malarial antibodies in twins. Proc. Natl. Acad. Sci. USA 89:21012104.
96. Spielman, R. S.,, R. E. McGinnis,, and W. J. Ewens. 1993. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52:506516.
97. Stead, W. W.,, J. W. Senner,, W. T. Reddick,, and J. P. Lofgren. 1990. Racial differences in susceptibility to infection by Mycobacterium tuberculosis. N. Engl. J. Med. 322:422427.
98. Tournamille, C.,, Y. Colin,, J. P. Cartron,, and C. Le Van Kim. 1995. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat. Genet. 10:224228.
99. Udhayakumar, V.,, J. M. Ongecha,, Y. P. Shi,, M. Aidoo,, A. S. Orago,, A. J. Oloo,, W. A. Hawley,, B. L. Nahlen,, S. L. Hoffman,, W. R. Weiss,, and A. A. Lal. 1997. Cytotoxic T cell reactivity and HLA-B35 binding of the variant Plasmodium falciparum circumsporozoite protein CD8+ CTL epitope in naturally exposed Kenyan adults. Eur. J. Immunol. 27:19521957.
100. van Eden, W.,, and R. R. P. de Vries. 1984. HLA and leprosy: a reevaluation. Lepr. Rev. 55:89104.
101. van Eden, W.,, N. M. Gonzalez,, R. R. de Vries,, J. Convit,, and J. J. van Rood. 1985. HLA-linked control of predisposition to lepromatous leprosy. J. Infect. Dis. 151:914.
102. Vidal, S. M.,, E. Pinner,, P. Lepage,, S. Gauthier,, and P. Gros. 1996. Natural resistance to intracellular infections: Nramp1 encodes a membrane phosphoglycoprotein absent in macrophages from susceptible (Nramp1 D169) mouse strains. J. Immunol. 157: 35593568.
103. Wakelin, D.,, and J. M. Blackwell. 1988. Genetics of Resistance to Bacterial and Parasitic Infection. Taylor & Francis, London, United Kingdom.
104. Wang, D. G.,, J. B. Fan,, C. J. Siao,, A. Berno,, P. Young,, R. Sapolsky,, G. Ghandour,, N. Perkins,, E. Winchester,, J. Spencer,, L. Kruglyak,, L. Stein,, L. Hsie,, T. Topaloglou,, E. Hubbell,, E. Robinson,, M. Mittmann,, M. S. Morris,, N. Shen,, D. Kilburn,, J. Rioux,, C. Nusbaum,, S. Rozen,, T. J. Hudson,, R. Lipshutz,, M. Chee,, and E. S. Lander. 1998. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280:10771082.
105. Weatherall, D. J. 1987. Common genetic disorders of the red cell and the ‘‘malaria hypothesis.’’ Ann. Trop. Med. Parasitol. 81: 539548.
106. Wilkinson, R. J.,, M. Llewelyn,, Z. Toossi,, P. Patel,, G. Pasvol,, A. Lalvani,, D. Wright,, M. Latif,, and R. N. Davidson. 2000. Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in west London: a case-control study. Lancet 355:618621.
107. Wilkinson, R. J.,, P. Patel,, M. Llewelyn,, C. S. Hirsch,, G. Pasvol,, G. Snounou,, R. N. Davidson,, and Z. Toossi. 1999. . J. Exp. Med. 189:18631874.
108. Wilson, A. G.,, J. A. Symons,, T. L. McDowell,, H. O. McDevitt,, and G. W. Duff. 1997. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc. Natl. Acad. Sci. USA 94:31953199.
109. World Health Organization. 1997. Primary immunodeficiency diseases. Report of a WHO scientific group. Clin. Exp. Immunol. 109(Suppl. 1):128.
110. Yamamura, M.,, K. Uyemura,, R. J. Deans,, K. Weinberg,, T. H. Rea,, B. R. Bloom,, and R. L. Modlin. 1991. Defining protective responses to pathogens: cytokine profiles in leprosy lesions. Science 254:277279.
111. Zerva, L.,, B. Cizman,, N. K. Mehra,, S. K. Alahari,, R. Murali,, C. M. Zmijewski,, M. Kamoun,, and D. S. Monos. 1996. Arginine at positions 13 or 70-71 in pocket 4 of HLA-DRB1 alleles is associated with susceptibility to tuberculoid leprosy. J. Exp. Med. 183:829836.

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