Extended IL10 haplotypes and their association with HIV progression to AIDS

Genes and Immunity

Volumn 10, Issue 4, 2009, Pages 309-322

  Oleksyk, T K ^a   Shrestha, S ^b   Truelove, A L ^a   Goedert, J J ^c   Donfield, S M ^d   Phair, J ^e   Mehta, S ^f   O'Brien, S J ^g   Smith, M W ^a  

^a SAIC FREDERICK INC   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d RHO INC   (United States)

^e NORTHWESTERN UNIVERSITY   (United States)

^f JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^g NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 10;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ADAPTIVE IMMUNITY; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; GENE CLUSTER; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNOPATHOGENESIS; MAJOR CLINICAL STUDY; MAMMAL; NONHUMAN; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ACQUIRED IMMUNODEFICIENCY SYNDROME; ANIMALS; COHORT STUDIES; DISEASE PROGRESSION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HIV-1; HUMANS; INTERLEUKIN-10; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

MAMMALIA;

EID: 67349111787     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2009.9     Document Type: Article

References (69)

1. UNAIDS. AIDS Epidemic Update. UNAIDS/WHO: Geneva, Switzerland, 2006.
2. Dumont F. Therapeutic potential of IL-10 and its viral homologues: An update. Expert Opin Ther Patents 2003; 13: 1551-1577.
3. O'Brien TR, Winkler C, Dean M, Nelson JA, Carrington M, Michael NL et al. HIV-1 infection in a man homozygous for CCR5 delta 32. Lancet 1997; 349: 1219.
4. Tang J, Penman-Aguilar A, Lobashevsky E, Allen S, Kaslow RA. HLA-DRB1 and -DQB1 alleles and haplotypes in Zambian couples and their associations with heterosexual transmission of HIV type 1. J Infect Dis 2004; 189: 1696-1704.
5. Shrestha S, Strathdee SA, Galai N, Oleksyk TK, Fallin MD, Mehta S et al. Behavioral risk exposure and host genetics of susceptibility to HIV-1 infection. J Infect Dis 2006; 193: 16-26.
6. Smith MW, Dean M, Carrington M, Winkler C, Huttley GA, Lomb DA et al 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 1997; 277: 959-965.
7. Kaslow RA, Dorak T, Tang JJ. Influence of host genetic variation on susceptibility to HIV type 1 infection. J Infect Dis 2005; 191 (Suppl 1): S68-S77.
8. Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005; 307: 1434-1440.
9. Telenti A, Goldstein DB. Genomics meets HIV-1. Nat Rev Microbiol 2006; 4: 865-873.
10. Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ et al Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc Natl Acad Sci USA 2000; 97: 14467-14472.
11. Loeuillet C, Deutsch S, Ciuffi A, Robyr D, Taffé P, Muñoz M et al. In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. PLoS Biology 2008; 6: E32.
12. Nakayama EE, Meyer L, Iwamoto A, Persoz A, Nagai Y, Rouzioux C et al Protective effect of interleukin-4 -589T polymorphism on human immunodeficiency virus type 1 disease progression: Relationship with virus load. J Infect Dis 2002; 185: 1183-1186.
13. Bream JH, Carrington M, O'Toole S, Dean M, Gerrard B, Shin HD et al Polymorphisms of the human IFNG gene noncoding regions. Immunogenetics 2000; 51: 50-58.
14. Donfack J, Buchinsky FJ, Post JC, Ehrlich GD. Human susceptibility to viral infection: The search for HIV-protective alleles among Africans by means of genome-wide studies. AIDS Res Hum Retroviruses 2006; 22: 925-930.
15. O'Brien SJ, Nelson GW. Human genes that limit AIDS. Nat Genet 2004; 36: 565-574.
16. Gonzalez E, Dhanda R, Bamshad M, Mummidi S, Geevarghese R, Catano G et al. Global survey of genetic variation in CCR5, RANTES, and MIP-1alpha: Impact on the epidemiology of the HIV-1 pandemic. Proc Natl Acad Sci USA 2001; 98: 5199-5204.
17. Vasilescu A, Heath SC, Ivanova R, Hendel H, Do H, Mazoyer A et al. Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10 haplotypes associated with the disease progression. Genes Immun 2003; 4: 441-449.
18. Moore KW, de Waal Malefyt R, Coffman RL, O'Garra A. Interleukin-10 and the interleukin-10 receptor. Annu Rev Immunol 2001; 19: 683-765.
19. Ho AS, Moore KW. Interleukin-10 and its receptor. Ther Immunol 1994; 1: 173-185.
20. Abbas A, Lichtman A, Pober J. Cellular and Molecular Immunology, 2nd edn, W.B. Saunders Company: Philadelphia, 1994.
21. Beebe AM, Cua DJ, deWaal Malefyt R. The role of interleukin- 10 in autoimmune disease: Systemic lupus erythematosus (SLE) and multiple sclerosis (MS). Cytokine Growth Factor Rev 2002; 13: 403-412.
22. Llorente L, Zou W, Levy Y, Richaud-Patin Y, Wijdenes J, Alcocer-Varela J et al. Role of interleukin 10 in the B lymphocyte hyperactivity and autoantibody production of human systemic lupus erythematosus. J Exp Med 1995; 181: 839-844.
23. Brooks DG, Trifilo MJ, Edelmann KH, Teyton L, McGavern DB, Oldstone MB. Interleukin-10 determines viral clearance or persistence in vivo. Nat Med 2006; 12: 1301-1309.
24. Mocellin S, Marincola F, Riccardo Rossi C, Nitti D, Lise M. The multifaceted relationship between IL-10 and adaptive immunity: Putting together the pieces of a puzzle. Cytokine Growth Factor Rev 2004; 15: 61-76.
25. Hsu DH, de Waal Malefyt R, Fiorentino DF, Dang MN, Vieira P, de Vries J et al. Expression of interleukin-10 activity by Epstein-Barr virus protein BCRF1. Science 1990; 250: 830-832.
26. Kotenko SV, Saccani S, Izotova LS, Mirochnitchenko OV, Pestka S. Human cytomegalovirus harbors its own unique IL-10 homolog (cmvIL-10). Proc Natl Acad Sci USA 2000; 97: 1695-1700.
27. Redpath S, Angulo A, Gascoigne NRJ, Ghazal P. Murine cytomegalovirus infection down-regulates MHC Class II expression on macrophages by induction of IL-10. J Immunol 1999; 162: 6701-6707.
28. Wilson JN, Rockett K, Keating B, Jallow M, Pinder M, Sisay-Joof F et al. A hallmark of balancing selection is present at the promoter region of interleukin 10. Genes Immun 2006; 7: 680-683.
29. Mormann M, Rieth H, Hua TD, Assohou C, Roupelieva M, Hu SL et al. Mosaics of gene variations in the Interleukin-10 gene promoter affect interleukin-10 production depending on the stimulation used. Genes Immun 2004; 5: 246-255.
30. Gibson AW, Edberg JC, Wu J, Westendorp RG, Huizinga TW, Kimberly RP. Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J Immunol 2001; 166: 3915-3922.
31. D'Alfonso S, Rampi M, Rolando V, Giordano M, Momigliano- Richiardi P. New polymorphisms in the IL-10 promoter region. Genes Immun 2000; 1: 231-233.
32. Ovcharenko I, Nobrega MA, Loots GG, Stubbs L. ECR Browser: A tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res 2004; 32: W280-W286.
33. Turner DM, Williams DM, Sankaran D, Lazarus M, Sinnott PJ, Hutchinson IV. An investigation of polymorphism in the interleukin-10 gene promoter. Eur J Immunogenet 1997; 24: 1-8.
34. Oleksyk TK, Thio CL, Truelove AL, Goedert JJ, Donfield SM, Kirk GD et al. Single nucleotide polymorphisms and haplotypes in the IL10 region associated with HCV clearance. Genes Immun 2005; 6: 347-357.
35. Hilgartner MW, Donfield SM, Willoughby A, Contant Jr CF, Evatt BL, Gomperts ED et al. Hemophilia growth and development study. Design, methods, and entry data. Am J Pediatr Hematol Oncol 1993; 15: 208-218.
36. Goedert JJ, Kessler CM, Aledort LM, Biggar RJ, Andes WA, White II GC et al. A prospective study of human immunodeficiency virus type 1 infection and the development of AIDS in subjects with hemophilia. N Engl J Med 1989; 321: 1141-1148.
37. Kaslow RA, Ostrow DG, Detels R, Phair JP, Polk BF, Rinaldo Jr CR. The Multicenter AIDS Cohort Study: Rationale, organization, and selected characteristics of the participants. Am J Epidemiol 1987; 126 310-318.
38. Reuss E, Fimmers R, Kruger A, Becker C, Rittner C, Hohler T. Differential regulation of interleukin-10 production by genetic and environmental factors - a twin study. Genes Immun 2002; 3: 407-413.
39. Bandelt HJ, Forster P, Sykes BC, Richards MB. Mitochondrial portraits of human populations using median networks. Genetics 1995; 141: 743-753.
40. Kundu N, Fulton AM. Interleukin-10 inhibits tumor metastasis, downregulates MHC class I, and enhances NK lysis. Cell Immunol 1997; 180: 55-61.
41. Moore KW, O'Garra A, de Waal Malefyt R, Vieira P, Mosmann TR. Interleukin-10. Annu Rev Immunol 1993; 11: 165-190.
42. Wang Y, Rice AP. Interleukin-10 inhibits HIV-1 LTR-directed gene expression in human macrophages through the induction of cyclin T1 proteolysis. Virology 2006; 352: 485-492.
43. Ji J, Sahu GK, Braciale VL, Cloyd MW. HIV-1 induces IL-10 production in human monocytes via a CD4-independent pathway. Int Immunol 2005; 17: 729-736.
44. Stylianou E, Aukrust P, Kvale D, Muller F, Froland SS. IL-10 in HIV infection: Increasing serum IL-10 levels with disease progression - down-regulatory effect of potent anti-retroviral therapy. Clin Exp Immunol 1999; 116: 115-120.
45. Akridge RE, Oyafuso LK, Reed SG. IL-10 is induced during HIV-1 infection and is capable of decreasing viral replication in human macrophages. J Immunol 1994; 153: 5782-5789.
46. Graziosi C, Pantaleo G, Gantt KR, Fortin JP, Demarest JF, Cohen OJ et al. Lack of evidence for the dichotomy of TH1 and TH2 predominance in HIV-infected individuals. Science 1994; 265: 248-252.
47. Zanussi S, Simonelli C, D'Andrea M, Caffau C, Clerici M, Tirelli U et al. CD8+ lymphocyte phenotype and cytokine production in long-term non-progressor and in progressor patients with HIV-1 infection. Clin Exp Immunol 1996; 105: 220-224.
48. Elrefaei M, Barugahare B, Ssali F, Mugyenyi P, Cao H. HIV-specific IL-10-positive CD8+ T cells are increased in advanced disease and are associated with decreased HIV-specific cytolysis. J Immunol 2006; 176: 1274-1280.
49. Ostrowski MA, Gu JX, Kovacs C, Freedman J, Luscher MA, MacDonald KS. Quantitative and qualitative assessment of human immunodeficiency virus type 1 (HIV-1)-specific CD4+ T cell immunity to gag in HIV-1-infected individuals with differential disease progression: Reciprocal interferon-gamma and interleukin-10 responses. J Infect Dis 2001; 184: 1268-1278.
50. Delves P, Roitt I. Encyclopedia of Immunology, 2nd edn, Academic Press: San Diego, 1998.
51. Ejrnaes M, Filippi CM, Martinic MM, Ling EM, Togher LM, Crotty S et al. Resolution of a chronic viral infection after interleukin-10 receptor blockade. J Exp Med 2006; 203: 2461-2472.
52. Wu M-Y, Chen H-F, Chen S-U, Chao K-H, Yang Y-S, Ho H-N. Increase in the production of interleukin-10 early after implantation is related to the success of pregnancy. Am J Reprod Immunol 2001; 46: 386-392.
53. Westendorp RGJ, van Dunne FM, Kirkwood TBL, Helmerhorst FM, Huizinga TWJ. Optimizing human fertility and survival. Nat Med 2001; 7 873.
54. Redpath S, Ghazal P, Gascoigne NRJ. Hijacking and exploitation of IL-10 by intracellular pathogens. Trends Microbiol 2001; 9: 86-92.
55. Woolfe A, Goodson M, Goode DK, Snell P, McEwen GK, Vavouri T et al Highly conserved non-coding sequences are associated with vertebrate development. PLoS Biol 2005; 3: E7.
56. Smith MW, Patterson N, Lautenberger JA, Truelove AL, McDonald GJ, Waliszewska A et al. A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet 2004; 74: 1001-1013.
57. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P et al. Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525-528.
58. Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA et al. A common variant associated with prostate cancer in European and African populations. Nat Genet 2006; 38: 652-658.
59. Vlahov D, Anthony JC, Munoz A, Margolick J, Nelson KE, Celentano DD et al. The ALIVE study, a longitudinal study of HIV-1 infection in intravenous drug users: Description of methods and characteristics of participants. NIDA Res Monogr 1991; 109: 75-100.
60. CDC. Centers for Disease Control: Revised classification system for HIV infection and expanded surveillance case definition for AIDS among adolescents and adults. MMWR 1992; 41: RR-17.
61. CDC. Centers for Disease Control: Revision of the CDC surveillance case definition for acquired immunodeficiency syndrome. MMWR 1987; 36: 1S-15S.
62. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R et al. 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 1996; 273: 1856-1862.
63. De La Vega FM, Dailey D, Ziegle J, Williams J, Madden D, Gilbert DA. New generation pharmacogenomic tools: A SNP linkage disequilibrium map, validated SNP assay resource, and high throughput instrumentation system for large scale genetic studies. BioTechniques 2002; 32: S48-S54.
64. Kumar S, Tamura K, Nei M. MEGA3: Integrated software for Molecular Evolutionary Genetics Analysis and sequence alignment. Brief Bioinform 2004; 5: 150-163.
65. Nei M, Kumar S. Molecular Evolution and Phylogenetics. Oxford University Press: New York, 2000, 352pp.
66. Posada D, Crandall KA. Intraspecific gene genealogies: Trees grafting into networks. Trends Ecol Evol 2001; 16: 37-45.
67. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21 263-265.
68. Schaid DJ. Evaluating associations of haplotypes with traits. Genet Epidemiol 2004; 27: 348-364.
69. SAS. SAS/Genetics. SAS Institute Inc.: Cary, NC, 2003.