The genomics and genetics of human infectious disease susceptibility

Annual Review of Genomics and Human Genetics

Volumn 2, Issue , 2001, Pages 373-400

  Hill, Adrian V S ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE; CHEMOKINE RECEPTOR; CYTOKINE; CYTOKINE RECEPTOR; HEMOGLOBIN; HLA ANTIGEN; LECTIN; MANNOSE BINDING PROTEIN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 1; PRION PROTEIN; TUMOR NECROSIS FACTOR; VITAMIN D; VITAMIN D RECEPTOR;

BASE MISPAIRING; BLOOD GROUP; CHROMOSOME; CHROMOSOME NOR; DISEASE PREDISPOSITION; EVOLUTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME; GENOMICS; HEREDITY; HOST PARASITE INTERACTION; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNOGENETICS; INFECTION; INFECTION SENSITIVITY; LEPROSY; MALARIA; MULTIFACTORIAL INHERITANCE; MYCOBACTERIOSIS; PERSISTENT VIRUS INFECTION; PRION DISEASE; REVIEW; SCHISTOSOMIASIS; TUBERCULOSIS; VIRUS HEPATITIS;

COMMUNICABLE DISEASES; GENETIC PREDISPOSITION TO DISEASE; GENETICS, MEDICAL; GENOME, HUMAN; HUMANS; LINKAGE (GENETICS);

HUMAN IMMUNODEFICIENCY VIRUS;

EID: 0035775726     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.2.1.373     Document Type: Review

References (180)

1. Abel L, Cot M, Mulder L, Carnevale P, Feingold J. 1992. Segregation analysis detects a major gene controlling blood infection levels in human malaria. Am. J. Hum. Genet. 50:1308-17
2. Abel L, Demenais F. 1988. Detection of major genes for susceptibility to leprosy and its subtypes in a Caribbean island: Desirade island. Am. J. Hum. Genet. 42: 256-66
3. Abel L, Sanchez FO, Oberti J, Thuc NV, Hoa LV, et al. 1998. Susceptibility to leprosy is linked to the human NRAMP1 gene. J. Infect. Dis. 177:133-45
4. Abraham LJ, Kroeger KM. 1999. Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: Relevance to disease. J. Leukocyte Biol. 66:562-66
5. Agarwal A, Guindo A, Cissoko Y, Taylor JG, Coulibaly D, et al. 2000. Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. Blood 96:2358-63
6. Aitman TJ, Cooper LD, Norsworthy PJ, Wahid FN, Gray JK, et al. 2000. Malaria susceptibility and CD36 mutation. Nature 405:1015-16
7. Alcais A, Sanchez FO, Thuc NV, Lap VD, Oberti J, et al. 2000. Granulomatous reaction to intradermal injection of lepromin (Mitsuda reaction) is linked to the human NRAMP1 gene in Vietnamese leprosy sibships. J. Infect. Dis. 181:302-8
8. Ali S, Niang MA, N'Doye I, Critchlow CW, Hawes SE, et al. 2000. Secretor polymorphism and human immunodeficiency virus infection in Senegalese women. J. Infect. Dis. 181:737-39
9. Allison AC. 1954. Protection afforded by sickle-cell trait against subtertain malarial infection. Br. Med. J. i:290-94
10. Alric L, Fort M, Izopet J, Vinel JP, Charlet JP, et al. 1997. Genes of the major histocompatibility complex class II influence the outcome of hepatitis C virus infection. Gastroenterology 113:1675-81
11. Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, et al. 1998. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280:1432-35
12. Amoroso A, Berrino M, Boniotto M, Crovella S, Palomba E, et al. 1999. Polymorphism at codon 54 of mannose-binding protein gene influences AIDS progression but not HIV infection in exposed children. AIDS 13:863-64
13. An P, Martin MP, Nelson GW, Carrington M, Smith MW, et al. 2000. Influence of CCR5 promoter haplotypes on AIDS progression in African Americans. AIDS 14:2117-22
14. Anzala AO, Ball TB, Rostron T, O'Brien SJ, Plummer FA, Rowland-Jones SL. 1998. CCR2-64I allele and genotype association with delayed AIDS progression in African women. University of Nairobi Collaboration for HIV Research. Lancet 351:1632-33
15. Balotta C, Bagnarelli P, Corvasce S, Mazzucchelli R, Colombo MC, et al. 1999. Identification of two distinct subsets of long-term nonprogressors with divergent viral activity by stromal-derived factor-1 chemokine gene polymorphism analysis. J. Infect. Dis. 180:285-89
16. Balotta C, Bagnarelli P, Violin M, Ridolfo AL, Zhou D, et al. 1997. Homozygous delta 32 deletion of the CCR-5 chemokine receptor gene in an HIV-1-infected patient. AIDS 11:F67-71
17. Barton CH, Biggs TE, Baker ST, Bowen H, Atkinson PG. 1999. Nramp 1: A link between intracellular iron transport and innate resistance to intracellular pathogens. J. Leukocyte Biol. 66:757-62
18. Bellamy R, Beyers N, McAdam KP, Ruwende C, Gie R, et al. 2000. Genetic susceptibility to tuberculosis in Africans: A genome-wide scan. Proc. Natl. Acad. Sci. USA 97:8005-9
19. Bellamy R, Ruwende C, Corrah T, McAdam KP, Thursz M, et al. 1999. Tuberculosis and chronic hepatitis B virus infection in Africans and variation in the vitamin D receptor gene. J. Infect. Dis. 179:721-24
20. Bellamy R, Ruwende C, Corrah T, McAdam KP, Whittle HC, Hill AV. 1998. Assessment of the interleukin 1 gene cluster and other candidate gene polymorphisms in host susceptibility to tuberculosis. Tuberc. Lung Dis. 79:83-89
21. Bellamy R, Ruwende C, Corrah T, McAdam KP, Whittle HC, Hill AV. 1998. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N. Engl. J. Med. 338:640-44
22. Bellamy R, Ruwende C, McAdam KP, Thursz M, Sumiya M, et al. 1998. Mannose-binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. Q. J. Med. 91:13-18
23. Bellamy RJ, Hill AV. 1998. Host genetic susceptibility to human tuberculosis. Novartis Found. Symp. 217:3-13
24. Blackwell CC, James VS, Davidson S, Wyld R, Brettle RP, et al. 1991. Secretor status and heterosexual transmission of HIV. Br. Med. J. 303:825-26
25. Blackwell JM, Barton CH, White JK, Roach TI, Shaw MA, et al. 1994. Genetic regulation of leishmanial and mycobacterial infections: The Lsh/Ity/Bcg gene story continues. Immunol. Lett. 43:99-107
26. Blackwell JM, Black GF, Peacock CS, Miller EN, Sibthorpe D, et al. 1997. Immunogenetics of leishmanial and mycobacterial infections: The Belem Family Study. Philos. Trans. R. Soc. London Ser. B Biol. Sci. 352:1331-45
27. Blackwell JM, Searle S, Goswami T, Miller EN. 2000. Understanding the multiple functions of Nramp1. Microbes Infect. 2:317-21
28. Blumberg BS, Gerstley BJ, Hungerford DA, London WT, Sutnick AI. 1967. A serum antigen (Australia antigen) in Down's syndrome, leukemia, and hepatitis. Ann. Intern. Med. 66:924-31
29. + T-cell decrease in advanced human immunodeficiency virus type 1 infection. J. Infect. Dis. 182:311-15
30. Bredius RG, Derkx BH, Fijen CA, de Wit TP, de Haas M, et al. 1994. Fc gamma receptor IIa (CD32) polymorphism in fulminant meningococcal septic shock in children. J. Infect. Dis. 170:848-53
31. Cabrera M, Shaw M-A, Sharples C, Williams H, Castes M, et al. 1995. Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J. Exp. Med. 182:1259-64
32. Carrington M, Nelson GW, Martin MP, Kissner T, Vlahov D, et al. 1999. HLA and HIV-1: Heterozygote advantage and B*35-Cw*04 disadvantage. Science 283:1748-52
33. Chakravarti MR, Vogel F. 1973. A Twin Study on Leprosy. Stuttgart: Thieme
34. Clegg AO, Ashton LJ, Biti RA, Badhwar P, Williamson P, et al. 2000. CCR5 promoter polymorphisms, CCR5 59029A and CCR5 59353C, are under represented in HIV-1-infected long-term non-progressors. The Australian Long-Term Non-Progressor Study Group. AIDS 14:103-8
35. Comstock GW. 1978. Tuberculosis in twins: A re-analysis of the Prophit survey. Am. Rev. Respir. Dis. 117:621-24
36. Conway DJ, Holland MJ, Bailey RL, Campbell AE, Mahdi OS, et al. 1997. Scarring trachoma is associated with polymorphism in the tumor necrosis factor alpha (TNF-alpha) gene promoter and with elevated TNF-alpha levels in tear fluid. Infect. Immun. 65:1003-6
37. Crawley E, Kay R, Silliboume J, Patel P, Hutchinson I, Woo P. 1999. Polymorphic haplotypes of the interleukin-10 5′ flanking region determine variable interleukin-10 transcription and are associated with particular phenotypes of juvenile rheumatoid arthritis. Arthritis Rheum. 42:1101-8
38. D'Ambrosio D, Cippitelli M, Cocciolo MG, Mazzeo D, Di Lucia P, et al. 1998. Inhibition of IL-12 production by 1,25-dihydroxy vitamin D3. Involvement of NF-kappaB downregulation in transcriptional repression of the p40 gene. J. Clin. Invest. 101:252-62
39. de Roda Husman AM, Koot M, Cornelissen M, Keet IP, Brouwer M, et al. 1997. Association between CCR5 geno-type and the clinical course of HIV-1 infection. Ann. Intern. Med. 127:882-90
40. de Vries RR, Fat RF, Nijenhuis LE, van Rood JJ. 1976. HLA linked genetic control of host response to Mycobacterium leprae. Lancet 2:1328-30
41. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, et al. 1996. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science. 273:1856-62. Erratum. 1996. Science 274(5290):1069
42. Dessein AJ, Hillaire D, Elwali NE, Marquet S, Mohamed-Ali Q, et al. 1999. Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-γ-receptor gene. Am. J. Hum. Genet. 65:709-21
43. Diehl K, Von Verscheur O. 1936. Der Erbeinfluss bei den Tuberkulose. Jena: Gustav Fischer
44. Doherty PC, Zinkemagel RM. 1975. A biological role for the major histocompatibility antigens. Lancet 1:1406-9
45. Easterbrook PJ, Rostron T, Ives N, Troop M, Gazzard BG, Rowland-Jones SL. 1999. Chemokine receptor polymorphisms and human immunodeficiency virus disease progression. J. Infect. Dis. 180:1096-105
46. Edwards-Smith CJ, Jonsson JR, Purdie DM, Bansal A, Shorthouse C, Powell EE. 1999. Interleukin-10 promoter polymorphism predicts initial response of chronic hepatitis C to interferon α. Hepatology 30:526-30
47. El-Omar EM, Carrington M, Chow WH, McColl KE, Bream JH, et al. 2000. Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 404:398-402
48. + individuals with a structural variant of the chemokine receptor CX3CR1. Science 287:2274-77
49. Floros J, Lin HM, Garcia A, Salazar MA, Guo X, et al. 2000. Surfactant protein genetic marker alleles identify a subgroup of tuberculosis in a Mexican population. J. Infect. Dis. 182:1473-78
50. Frodsham AJ. 2000. The Genetics of Susceptibility to Chronic Hepatitis B Infection. PhD thesis. Oxford Univ.
51. Fryer AA, Spiteri MA, Bianco A, Hepple M, Jones PW, et al. 2000. The -403 G-A promoter polymorphism in the RANTES gene is associated with atopy and asthma. Genes Immun. 1:509-14
52. Gao PS, Fujishima S, Mao XQ, Remus N, Kanda M, et al. 2000. Genetic variants of NRAMP1 and active tuberculosis in Japanese populations. Clin. Genet. 58:74-76
53. Garcia A, Marquet S, Bucheton B, Hillaire D, Cot M, et al. 1998. Linkage analysis of blood Plasmodium falciparum levels: Interest of the 5q31-q33 chromosome region. Am. J. Trop. Med. Hyg. 58:705-9
54. Garred P, Harboe M, Oettinger T, Koch C, Svejgaard A. 1994. Dual role of mannan-binding protein in infections: Another case of heterosis? Eur. J. Immunogenet. 21:125-31
55. Garred P, Madsen HO, Balslev U, Hofmann B, Pedersen C, et al. 1997. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet 349:236-40
56. Gelder CM, Hart KW, Williams OM, Lyons E, Welsh KI, et al. 2000. Vitamin D receptor gene polymorphisms and susceptibility to Mycobacterium malmoense pulmonary disease. J. Infect. Dis. 181:2099-102
57. Gilbert SC, Plebanski M, Gupta S, Morris J, Cox M, et al. 1998. Association of malaria parasite population structure, HLA, and immunological antagonism. Science 279:1173-77
58. Goldfeld AE, Delgado JC, Thim S, Bozon MV, Uglialoro AM, et al. 1998. Association of an HLA-DQ allele with clinical tuberculosis. JAMA 279:226-28
59. Greenwood CM, Fujiwara TM, Boothroyd LJ, Miller MA, Frappier D, et al. 2000. Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian family. Am. J. Hum. Genet. 67:405-16
60. Haile RW, Iselius L, Fine PE, Morton NE. 1985. Segregation and linkage analyses of 72 leprosy pedigrees. Hum. Hered. 35:43-52
61. a. Hendel H, Caillat-Zucman S, Lebuanec H, Carrington M. O'Brien S, et al. 1999. New class I and II HLA alleles strongly associated with opposite patterns of progression to AIDS. J. Immunol. 162:6942-45
62. Hennig BJ, Parkhill JM, Chapple IL, Heasman PA, Taylor JJ. 1999. Association of a vitamin D receptor gene polymorphism with localized early-onset periodontal diseases. J. Periodontol. 70:1032-38
63. Hibberd ML, Sumiya M, Summerfield JA, Booy R, Levin M. 1999. Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Meningococcal Research Group. Lancet 353:1049-53
64. Hill AV. 1996. Genetic susceptibility to malaria and other infectious diseases: From the MHC to the whole genome. Parasitology 112:S75-84
65. Hill AV, Allsopp CE, Kwiatkowski D, Anstey NM, Twumasi P, et al. 1991. Common West African HLA antigens are associated with protection from severe malaria. Nature 352:595-600
66. Hill AV, Elvin J, Willis AC, Aidoo M, Allsopp CE, et al. 1992. Molecular analysis of the association of HLA-B53 and resistance to severe malaria. Nature 360:434-39
67. Hoal-Van Helden EG, Epstein J, Victor TC, Hon D, Lewis LA, et al. 1999. Mannose-binding protein B allele confers protection against tuberculous meningitis. Pediatr. Res. 45:459-64
68. Hohler T, Kruger A, Gerken G, Schneider PM, Meyer zum Buschenefelde KH, Rittner C. 1998. A tumor necrosis factor-alpha (TNF-alpha) promoter polymorphism is associated with chronic hepatitis B infection. Clin. Exp. Immunol. 111:579-82
69. Huang Y, Paxton WA, Wolinsky SM, Neumann AU, Zhang L, et al. 1996. The role of a mutant CCR5 allele in HIV-1 transmission and disease progression. Nat. Med. 2:1240-43
70. Huebner R. 1996. Bacillus of Calmette and Guerin (BCG) vaccine. In Tuberculosis, ed. WN Rom, SM Gray, pp. 893-904. Boston: Little, Brown
71. Jabado N, Jankowski A, Dougaparsad S, Picard V, Grinstein S, Gros P. 2000. Natural resistance to intracellular infections. Natural resistance-associated macrophage protein 1 (nramp1) functions as a pH-dependent manganese transporter at the phagosomal membrane. J. Exp. Med. 192:1237-48
72. James SP, Nicol WD, Shute PG. 1932. A study of induced malignant tertian malaria. Proc. R. Soc. Med. 25:1153-86
73. Jeffery KJ, Siddiqui AA, Bunce M, Lloyd AL, Vine AM, et al. 2000. The influence of HLA class I alleles and heterozygosity on the outcome of human T-cell lymphotropic virus type I infection. J. Immunol. 165:7278-84
74. Jeffery KJ, Usuku K, Hall SE, Matsumoto W, Taylor GP, et al. 1999. HLA alleles determine human T-lymphotropic virus-I (HTLV-I) proviral load and the risk of HTLV-I-associated myelopathy. Proc. Natl. Acad. Sci. USA 96:3848-53
75. Jepson A, Banya W, Sisay-Joof F, Hassan-King M, Nunes C, et al. 1997. Quantification of the relative contribution of major histocompatibility complex (MHC) and non-MHC genes to human immune responses to foreign antigens. Infect. Immun. 65:872-76
76. Jepson A, Sisay-Joof F, Banya W, Hassan-King M, Frodsham A, et al. 1997. Genetic linkage of mild malaria to the major histocompatibility complex in Gambian children: Study of affected sibling pairs. Br. Med. J. 315:96-97
77. Jong R, Altare F, Haagen IA, Elferink DG, Boer T, et al. 1998. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435-38
78. Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, et al. 1996. Interferon-γ-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N. Engl. J. Med. 335:1956-61
79. Kallmann FJ, Reisner D. 1942. Twin studies on the significance of genetic factors in tuberculosis. Am. Rev. Tuberc. 47:549-74
80. Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB. 1995. Sequence and expression of a candidate for the human secretor blood group alpha(1,2)fucosyl-transferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J. Biol. Chem. 270:4640-49
81. Knight JC, Udalova I, Hill AV, Greenwood BM, Peshu N, et al. 1999. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat. Genet. 22:145-50
82. Kostrikis LG, Huang Y, Moore JP, Wolinsky SM, Zhang L, et al. 1998. A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation. Nat. Med. 4:350-53
83. Kostrikis LG, Neumann AU, Thomson B, Korber BT, McHardy P, et al. 1999. A polymorphism in the regulatory region of the CC-chemokine receptor 5 gene influences perinatal transmission of human immunodeficiency virus type 1 to African-American infants. J. Virol. 73:10264-71
84. Kovacs GG, Head MW, Bunn T, Laszlo L, Will RG, Ironside JW. 2000. Clinicopathological phenotype of codon 129 valine homozygote sporadic creutzfeldt-Jakob disease. Neuropathol. Appl. Neurobiol. 26:463-72
85. Kramnik I, Dietrich WF, Demant P, Bloom BR. 2000. Genetic control of resistance to experimental infection with virulent Mycobacterium tuberculosis. Proc. Natl. Acad. Sci. USA 97:8560-65
86. Kroner BL, Goedert JJ, Blattner WA, Wilson SE, Carrington MN, Mann DL. 1995. Concordance of human leukocyte antigen haplotype sharing, CD4 decline and AIDS in hemophilic siblings. Multicenter Hemophilia Cohort and Hemophilia Growth and Development Studies. AIDS 9:275-80
87. LeBlanc SB, Naik EG, Jacobson L, Kaslow RA. 2000. Association of DRB1*1501 with disseminated Mycobacterium avium complex infection in North American AIDS patients. Tissue Antigens 55:17-23
88. Lee HS, Brown P, Cervenakova L, Garruto RM, Alpers MP, et al. 2001. Increased susceptibility to kuru of carriers of the PRNP 129 methionine/methionine genotype. J. Infect. Dis. 183:192-96
89. Lin TM, Chen CJ, Wu MM, Yang CS, Chen JS, et al. 1989. Hepatitis B virus markers in Chinese twins. Anticancer Res. 9:737-41
90. Liu H, Chao D, Nakayama EE, Taguchi H, Goto M, et al. 1999. Polymorphism in RANTES chemokine promoter affects HIV-1 disease progression. Proc. Natl. Acad. Sci. USA 96:4581-85
91. Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, et al. 1996. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 86:367-77
92. Luty AJ, Kun JF, Kremsner PG. 1998. Mannose-binding lectin plasma levels and gene polymorphisms in Plasmodium falciparum malaria. J. Infect. Dis. 178:1221-24
93. MacDonald KS, Fowke KR, Kimani J, Dunand VA, Nagelkerke NJ, et al. 2000. Influence of HLA supertypes on susceptibility and resistance to human immunodeficiency virus type 1 infection. J. Infect. Dis. 181:1581-89
94. Malaty HM, Engstrand L, Pedersen NL, Graham DY. 1994. Helicobacter pylori infection: Genetic and environmental influences. A study of twins. Ann. Intern. Med. 120:982-86
95. Maliarik MJ, Chen KM, Sheffer RG, Rybicki BA, Major ML, et al. 2000. The natural resistance-associated macrophage protein gene in African Americans with sarcoidosis. Am. J. Respir. Cell Mol. Biol. 22:672-75
96. Marquet S, Abel L, Hillaire D, Dessein A. 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. 7:88-97
97. Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, et al. 1996. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat. Genet. 14:181-84
98. Marquet S, Lepage P, Hudson TJ, Musser JM, Schurr E. 2000. Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on chromosome region 2q35. Mamm. Genome 11:755-62
99. Marquet S, Sanchez FO, Arias M, Rodriguez J, Paris SC, et al. 1999. Variants of the human NRAMP1 gene and altered human immunodeficiency virus infection susceptibility. J. Infect. Dis. 180:1521-25
100. Martin MP, Dean M, Smith MW, Winkler C, Gerrard B, et al. 1998. Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science 282:1907-11
101. Martinson JJ, Chapman NH, Rees DC, Liu YT, Clegg JB. 1997. Global distribution of the CCR5 gene 32-basepair deletion. Nat. Genet. 16:100-3
102. McBride MO, Fischer PB, Sumiya M, McClure MO, Turner MW, et al. 1998. Mannose-binding protein in HIV-sero-positive patients does not contribute to disease progression or bacterial infections. Int. J. Stud. AIDS 9:683-88
103. McDermott DH, Beecroft MJ, Kleeberger CA, Al-Sharif FM, Ollier WE, et al. 2000. Chemokine RANTES promoter polymorphism affects risk of both HIV infection and disease progression in the Multicenter AIDS Cohort Study. AIDS 14:2671-78
104. McDermott DH, Colla JS, Kleeberger CA, Plankey M, Rosenberg PS, et al. 2000. Genetic polymorphism in CX3CR1 and risk of HIV disease. Science 290:2031a
105. McDermott DH, Zimmerman PA, Guignard F, Kleeberger CA, Leitman SF, Murphy PM. 1998. CCR5 promoter polymorphism and HIV-1 disease progression. Multicenter AIDS Cohort Study (MACS). Lancet 352:866-70
106. McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. 1994. Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature 371:508-10
107. McGuire W, Knight JC, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. 1999. Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles. J. Infect. Dis. 179:287-90
108. Mehra NK, Rajalingam R, Mitra DK, Taneja V, Giphart MJ. 1995. Variants of HLA-DR2/DR51 group haplotypes and susceptibility to tuberculoid leprosy and pulmonary tuberculosis in Asian Indians. Int. J. Lepr. Other Mycobact. Dis. 63:241-48
109. a. Meisner SJ, Mucklow S, Warner G, Sow SO, Lienhardt C, Hill AVS. 2001. Association of NRAMPI polymorphism with leprosy type but not susceptibility to leprosy per se in West Africans. Am. J. Trop. Med. Hyg. In press
110. Mellado M, Rodriguez-Frade JM, Vila-Coro AJ, de Ana AM, Martinez AC. 1999. Chemokine control of HIV-1 infection. Nature 400:723-24
111. Michael NL, Chang G, Louie LG, Mascola JR, Dondero D, et al. 1997. The role of viral phenotype and CCR-5 gene defects in HIV-1 transmission and disease progression. Nat. Med. 3:338-40
112. Michael NL, Louie LG, Rohrbaugh AL, Schultz KA, Dayhoff DE, et al. 1997. The role of CCR5 and CCR2 polymorphisms in HIV-1 transmission and disease progression. Nat. Med. 3:1160-62
113. Migueles SA, Sabbaghian MS, Shupert WL, Bettinotti MP, Marincola FM, et al. 2000. HLA-B*5701 is highly associated with restriction of virus replication in a subgroup of HIV-infected long-term nonprogressors. Proc. Natl. Acad. Sci. USA 97:2709-14
114. Miller LH, Mason SJ, Clyde DF, McGinniss MH. 1976. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N. Engl. J. Med. 295:302-4
115. Minton EJ, Smillie D, Neal KR, Irving WL, Underwood JC, James V. 1998. Association between MHC class II alleles and clearance of circulating hepatitis C virus. Members of the Trent Hepatitis C Virus Study Group. J. Infect. Dis. 178:39-44
116. Modiano D, Chiucchiuini A, Petrarca V, Sirima BS, Luoni G, et al. 1999. Interethnic differences in the humoral response to non-repetitive regions of the Plasmodium falciparum circumsporozoite protein. Am. J. Trop. Med. Hyg. 61:663-67
117. Modiano D, Petrarca V, Sirima BS, Nebie I, Diallo D, et al. 1996. Different response to Plasmodium falciparum malaria in West African sympatric ethnic groups. Proc. Natl. Acad. Sci. USA 93:13206-11
118. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, et al. 1994. Prediction of bone density from vitamin D receptor alleles. Nature 367:284-87. Erratum. 1997. Nature 387(6628):106
119. Muller-Myhsok B, Stelma FF, Guisse-Sow F, Muntau B, Thye T, et al. 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. 61:452-54
120. Mummidi S, Ahuja SS, Gonzalez E, Anderson SA, Santiago EN, et al. 1998. Genealogy of the CCR5 locus and chemokine system gene variants associated with altered rates of HIV-1 disease progression. Nat. Med. 4:786-93
121. Mummidi S, Bamshad M, Ahuja SS, Gonzalez E, Feuillet PM, et al. 2000. Evolution of human and non-human primate CC chemokine receptor 5 gene and mRNA. Potential roles for haplo-type and mRNA diversity, differential haplotype-specific transcriptional activity, and altered transcription factor binding to polymorphic nucleotides in the pathogenesis of HIV-1 and simian immunodeficiency virus. J. Biol. Chem. 275:18946-61
122. Nakayama EE, Hoshino Y, Xin X, Liu H, Goto M, et al. 2000. Polymorphism in the interleukin-4 promoter affects acquisition of human immunodeficiency virus type 1 syncytium-inducing phenotype. J. Virol. 74:5452-59
123. Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, et al. 1996. A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 335:1941-49
124. Nickel RG, Casolaro V, Wahn U, Beyer K, Barnes KC, et al. 2000. Atopic dermatitis is associated with a functional mutation in the promoter of the C-C chemokine RANTES. J. Immunol. 164:1612-16
125. North RJ, LaCourse R, Ryan L, Gros P. 1999. Consequence of Nramp1 deletion to Mycobacterium tuberculosis infection in mice. Infect. Immun. 67:5811-14
126. Palmer MS, Dryden AJ, Hughes JT, Collinge J. 1991. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature. 352:340-42. Erratum. 1991. Nature 352:547
127. Pastinen T, Liitsola K, Niini P, Salminen M, Syvanen AC. 1998. Contribution of the CCR5 and MBL genes to susceptibility to HIV type 1 infection in the Finnish population. AIDS Res. Hum. Retrovir. 14:695-98
128. Peano G, Menardi G, Ponzetto A, Fenoglio LM, Czaja AJ, et al. 1994. HLA-DR5 antigen. A genetic factor influencing the outcome of hepatitis C virus infection? Significance of human leukocyte antigens DR3 and DR4 in chronic viral hepatitis. Arch. Intern. Med. 154:2733-36
129. Penna G, Adorini L. 2000. 1α,25-dihydroxyvitamin D3 inhibits differentiation, maturation, activation, and survival of dendritic cells leading to impaired alloreactive T-cell activation. J. Immunol. 164:2405-11
130. Platonov AE, Shipulin GA, Vershinina IV, Dankert J, van de Winkel JG, Kuijper EJ. 1998. Association of human Fc gamma RIIa (CD32) polymorphism with susceptibility to and severity of meningococcal disease. Clin. Infect. Dis. 27:746-50
131. Plebanski M, Lee EA, Hannan CM, Flanagan KL, Gilbert SC, et al. 1999. Altered peptide ligands narrow the repertoire of cellular immune responses by interfering with T-cell priming. Nat. Med. 5:565-71
132. Ravikumar M, Dheenadhayalan V, Rajaram jarain K, Lakshmi SS, Kumaran PP, et al. 1999. Associations of HLA-DRB1, DQB1 and DPB1 alleles with pulmonary tuberculosis in South India. Tuberc. Lung Dis. 79:309-17
133. Rihet P, Abel L, Traore Y, Traore-Leroux T, Aucan C, Fumoux F. 1998. Human malaria: Segregation analysis of blood infection levels in a suburban area and a rural area in Burkina Faso. Genet. Epidemiol. 15:435-50
134. Risch N. 1987. Assessing the role of HLA linked and unlinked determinants of disease. Am. J. Hum. Genet. 40:1-14
135. Rizzardi GP, Morawetz RA, Vicenzi E, Ghezzi S, Poli G, et al. 1998. CCR2 polymorphism and HIV disease. Swiss HIV Cohort. Nat. Med. 4:252-53
136. Roger M, Levee G, Chanteau S, Gicquel B, Schurr E. 1997. No evidence for linkage between leprosy susceptibility and the human natural resistance-associated macrophage protein 1 (NRAMP1) gene in French Polynesia. Int. J. Lepr. Other Mycobact. Dis. 65:197-202
137. Rook GA, Steele J, Fraher L, Barker S, Karmali R, et al. 1986. Vitamin D3, γ interferon, and control of proliferation of Mycobacterium tuberculosis by human monocytes. Immunology 57:159-63
138. Roy S, Frodsham A, Saha B, Hazra SK, Mascie-Taylor CG, Hill AV. 1999. Association of vitamin D receptor genotype with leprosy type. J. Infect. Dis. 179:187-91
139. Deleted in proof
140. Roy S, McGuire W, Mascie-Taylor CG, Saha B, Hazra SK, et al. 1997. Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy. J. Infect. Dis. 176:530-32
141. Ryu S, Park YK, Bai GH, Kim SJ, Park SN, Kang S. 2000. 3κ UTR polymorphisms in the NRAMP1 gene are associated with susceptibility to tuberculosis in Koreans. Int. J. Tuberc. Lung Dis. 4:577-80
142. Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, et al. 1996. Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 382:722-25
143. Sanders LA, van de Winkel JG, Rijkers GT, Voorhorst Ogink MM, de Haas M, et al. 1994. Fc gamma receptor IIa (CD32) heterogeneity in patients with recurrent bacterial respiratory tract infections. J. Infect. Dis. 170:854-61
144. Sanjeevi CB, Miller EN, Dabadghao P, Rumba I, Shtauvere A, et al. 2000. Polymorphism at NRAMP1 and D2S1471 loci associated with juvenile rheumatoid arthritis. Arthritis Rheum. 43:1397-404
145. Selvaraj P, Narayanan PR, Reetha AM. 1999. Association of functional mutant homozygotes of the mannose-binding protein gene with susceptibility to pulmonary tuberculosis in India. Tuberc. Lung Dis. 79:221-27
146. Shaw MA, Collins A, Peacock CS, Miller EN, Black GF, et al. 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. Tuberc. Lung Dis. 78:35-45
147. Shin HD, Winkler C, Stephens JC, Bream J, Young H, et al. 2000. Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc. Natl. Acad. Sci. USA 97:14467-72
148. Siddiqui MR, Meisner S, Tosh K, Balakrishnan K, Ghei S, et al. 2001. A major susceptibility locus for leprosy in India maps to chromosome 10p13. Nat. Genet. 27:439-41
149. Simmons JD, Mullighan C, Welsh KI, Jewell DP. 2000. Vitamin D receptor gene polymorphism: Association with Crohn's disease susceptibility. Gut 47:211-14
150. Singh SP, Mehra NK, Dingley HB, Pande JN, Vaidya MC. 1983. Human leukocyte antigen (HLA) linked control of susceptibility to pulmonary tuberculosis and association with HLA-DR types. J. Infect. Dis. 148:676-81
151. Skamene E, Schurr E, Gros P. 1998. Infection genomics: Nramp1 as a major determinant of natural resistance to intracellular infections. Annu. Rev. Med. 49:275-87
152. Smith MW, Carrington M, Winkler C, Lomb D, Dean M, et al. 1997. CCR2 chemokine receptor and AIDS progression. Nat. Med. 3:1052
153. Smith MW, Dean M, Carrington M, Winkler C, Huttley GA, et al. 1997. Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC), ALIVE Study. Science 277:959-65
154. Sorensen TI, Nielsen GG, Andersen PK, Teasdale TW. 1988. Genetic and environmental influences on premature death in adult adoptees. N. Engl. J. Med. 318:727-32
155. Summerfield JA, Sumiya M, Levin M, Turner MW. 1997. Association of mutations in mannose-binding protein gene with childhood infection in consecutive hospital series. Br. Med. J. 314:1229-32
156. Tang C, Kwiatkowski D. 1999. Mannose-binding lectin and meningococcal disease. Lancet 354:336
157. Thomas HC, Foster GR, Sumiya M, McIntosh D, Jack DL, et al. 1996. Mutation of gene of mannose-binding protein associated with chronic hepatitis B viral infection. Lancet 348:1417-19
158. Thursz M, Yallop R, Goldin R, Trepo C, Thomas HC. 1999. Influence of MHC class II genotype on outcome of infection with hepatitis C virus. The HENCORE Group. Hepatitis C European Network for Cooperative Research. Lancet 354:2119-24
159. Thursz MR, Thomas HC, Greenwood BM, Hill AV. 1997. Heterozygote advantage for HLA class II type in hepatitis B virus infection. Nat. Genet. 17:11-12
160. Tournamille C, Colin Y, Cartron JP, Le Van Kim C. 1995. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat. Genet. 10:224-28
161. Turner DM, Williams DM, Sankaran D, Lazarus M, Sinnott PJ, Hutchinson IV. 1997. An investigation of polymorphism in the interleukin-10 gene promoter. Eur. J. Immunogenet. 24:1-8
162. Turner MW. 1998. Mannose-binding lectin (MBL) in health and disease. Immunobiology 199:327-39
163. Urban BC, Ferguson DJ, Pain A, Willcox N, Plebanski M, et al. 1999. Plasmodium falciparum-infected erythrocytes modulate the maturation of dendritic cells. Nature 400:73-77
164. van Eden W, de Vries RR, Mehra NK, Vaidya MC, D'Amaro J, van Rood JJ. 1980. HLA segregation of tuberculoid leprosy: Confirmation of the DR2 marker. J. Infect. Dis. 141:693-701
165. van Rij RP, Broersen S, Goudsmit J, Coutinho RA, Schuitemaker H. 1998. The role of a stromal cell-derived factor-1 chemokine gene variant in the clinical course of HIV-1 infection. AIDS 12:F85- 90
166. Vidal S, Tremblay ML, Govoni G, Gauthier S, Sebastiani G, et al. 1995. The Ity/Lsh/Bcg locus: Natural resistance to infection with intracellular parasites is abrogated by disruption of the Nramp1 gene. J. Exp. Med. 182:655-66
167. Vidal SM, Malo D, Vogan K, Skamene E, Gros P. 1993. Natural resistance to infection with intracellular parasites: Isolation of a candidate for Bcg. Cell 73:469-85
168. Wawrzynowicz-Syczewska M, Underhill JA, Clare MA, Boron-Kaczmarska A, McFarlane IG, Donaldson PT. 2000. HLA class II genotypes associated with chronic hepatitis C virus infection and response to α-interferon treatment in Poland. Liver 20:234-39
169. White JK, Shaw MA, Barton CH, Cerretti DP, Williams H, et al. 1994. Genetic and physical mapping of 2q35 in the region of the NRAMP and IL8R genes: Identification of a polymorphic repeat in exon 2 of NRAMP. Genomics 24:295-302
170. Wilkinson RJ, Llewelyn M, Toossi Z, Patel P, Pasvol G, et al. 2000. Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in West London: A case-control study. Lancet 355:618-21
171. Wilkinson RJ, Patel P, Llewelyn M, Hirsch CS, Pasvol G, et al. 1999. Influence of polymorphism in the genes for the interleukin (IL)-1 receptor antagonist and IL-1beta on tuberculosis. J. Exp. Med. 189:1863-74
172. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. 1997. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc. Natl. Acad. Sci. USA 94:3195-99
173. Windl O, Dempster M, Estibeiro JP, Lathe R, de Silva R, et al. 1996. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. Hum. Genet. 98:259-64
174. Winkler C, Modi W, Smith MW, Nelson GW, Wu X, et al. 1998. Genetic restriction of AIDS pathogenesis by an SDF-1 chemokine gene variant. ALIVE Study, Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC). Science 279:389-93
175. Xu J, Postma DS, Howard TD, Koppelman GH, Zheng SL, et al. 2000. Major genes regulating total serum immunoglobulin E levels in families with asthma. Am. J. Hum. Genet. 67:1163-73
176. Yee AM, Phan HM, Zuniga R, Salmon JE, Musher DM. 2000. Association between Fc gamma RIIa-R131 allotype and bacteremic pneumococcal pneumonia. Clin. Infect. Dis. 30:25-28
177. Zavaglia C, Martinetti M, Silini E, Bottelli R, Daielli C, et al. 1998. Association between HLA class II alleles and protection from or susceptibility to chronic hepatitis C. J. Hepatol. 28:1-7
178. Zeidler M, Stewart G, Cousens SN, Estibeiro K, Will RG. 1997. Codon 129 genotype and new variant CJD. Lancet 350:668
179. Zimmerman PA, Buckler-White A, Alkhatib G, Spalding T, Kubofcik J, et al. 1997. Inherited resistance to HIV-1 conferred by an inactivating mutation in CC chemokine receptor 5: studies in populations with contrasting clinical phenotypes, defined racial background, and quantified risk. Mol. Med. 3:23-36
180. Zimmerman PA, Woolley I, Masinde GL, Miller SM, McNamara DT, et al. 1999. Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea. Proc. Natl. Acad. Sci. USA 96:13973-77