CCR5 promoter haplotypes differentially influence CCR5 expression on natural killer and T cell subsets in ethnically divergent HIV-1 uninfected South African populations
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  • 作者:Anabela C. P. Picton (12)
    Maria Paximadis (12)
    Caroline T. Tiemessen (12) carolinet@nicd.ac.za
  • 关键词:CCR5 haplotypes &#8211 ; CCR5 expression &#8211 ; South African populations &#8211 ; Natural killer cells &#8211 ; T cells &#8211 ; HIV ; 1
  • 刊名:Immunogenetics
  • 出版年:2012
  • 出版时间:November 2012
  • 年:2012
  • 卷:64
  • 期:11
  • 页码:795-806
  • 全文大小:590.9 KB
  • 参考文献:1. Alter G, Altfeld M (2009) NK cells in HIV-1 infection: evidence for their role in the control of HIV-1 infection. J Intern Med 265:29–42
    2. An P, Martin MP, Nelson GW, Carrington M, Smith MW, Gong K, Vlahov D, O'Brien SJ, Winkler CA (2000) Influence of CCR5 promoter haplotypes on AIDS progression in African-Americans. AIDS 14:2117–2122
    3. Ansari-Lari MA, Liu XM, Metzker ML, Rut AR, Gibbs RA (1997) The extent of genetic variation in the CCR5 gene. Nat Genet 16:221–222
    4. Begaud E, Chartier L, Marechal V, Ipero J, Leal J, Versmisse P, Breton G, Fontanet A, Capoulade-Metay C, Fleury H, Barre-Sinoussi F, Scott-Algara D, Pancino G (2006) Reduced CD4 T cell activation and in vitro susceptibility to HIV-1 infection in exposed uninfected Central Africans. Retrovirology 3:35
    5. Carrington M, Kissner T, Gerrard B, Ivanov S, O'Brien SJ, Dean M (1997) Novel alleles of the chemokine-receptor gene CCR5. Am J Hum Genet 61:1261–1267
    6. de Roda Husman AM, Blaak H, Brouwer M, Schuitemaker H (1999) CC chemokine receptor 5 cell-surface expression in relation to CC chemokine receptor 5 genotype and the clinical course of HIV-1 infection. J Immunol 163:4597–4603
    7. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R, Goedert JJ, Buchbinder SP, Vittinghoff E, Gomperts E, Donfield S, Vlahov D, Kaslow R, Saah A, Rinaldo C, Detels R, O'Brien SJ (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 273:1856–1862
    8. Deng H, Liu R, Ellmeier W, Choe S, Unutmaz D, Burkhart M, Di Marzio P, Marmon S, Sutton RE, Hill CM, Davis CB, Peiper SC, Schall TJ, Littman DR, Landau NR (1996) Identification of a major co-receptor for primary isolates of HIV-1. Nature 381:661–666
    9. Desmetz C, Lin YL, Mettling C, Portales P, Rabesandratana H, Clot J, Corbeau P (2006) The strength of the chemotactic response to a CCR5 binding chemokine is determined by the level of cell surface CCR5 density. Immunology 119:551–561
    10. Dragic T, Litwin V, Allaway GP, Martin SR, Huang Y, Nagashima KA, Cayanan C, Maddon PJ, Koup RA, Moore JP, Paxton WA (1996) HIV-1 entry into CD4+ cells is mediated by the chemokine receptor CC-CKR-5. Nature 381:667–673
    11. Freeman EE, Weiss HA, Glynn JR, Cross PL, Whitworth JA, Hayes RJ (2006) Herpes simplex virus 2 infection increases HIV acquisition in men and women: systematic review and meta-analysis of longitudinal studies. AIDS 20:73–83
    12. Galvani AP, Novembre J (2005) The evolutionary history of the CCR5-Delta32 HIV-resistance mutation. Microbes Infect 7:302–309
    13. Gonzalez E, Bamshad M, Sato N, Mummidi S, Dhanda R, Catano G, Cabrera S, McBride M, Cao XH, Merrill G, O'Connell P, Bowden DW, Freedman BI, Anderson SA, Walter EA, Evans JS, Stephan KT, Clark RA, Tyagi S, Ahuja SS, Dolan MJ, Ahuja SK (1999) Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proc Natl Acad Sci U S A 96:12004–12009
    14. Gonzalez E, Dhanda R, Bamshad M, Mummidi S, Geevarghese R, Catano G, Anderson SA, Walter EA, Stephan KT, Hammer MF, Mangano A, Sen L, Clark RA, Ahuja SS, Dolan MJ, Ahuja SK (2001) Global survey of genetic variation in CCR5, RANTES, and MIP-1alpha: impact on the epidemiology of the HIV-1 pandemic. Proc Natl Acad Sci U S A 98:5199–5204
    15. Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'Connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307:1434–1440
    16. Howard OM, Shirakawa AK, Turpin JA, Maynard A, Tobin GJ, Carrington M, Oppenheim JJ, Dean M (1999) Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 Co-receptor and ligand binding function. J Biol Chem 274:16228–16234
    17. John GC, Bird T, Overbaugh J, Nduati R, Mbori-Ngacha D, Rostron T, Dong T, Kostrikis L, Richardson B, Rowland-Jones SL (2001) CCR5 promoter polymorphisms in a Kenyan perinatal human immunodeficiency virus type 1 cohort: association with increased 2-year maternal mortality. J Infect Dis 184:89–92
    18. Kalinkovich A, Borkow G, Weisman Z, Tsimanis A, Stein M, Bentwich Z (2001) Increased CCR5 and CXCR4 expression in Ethiopians living in Israel: environmental and constitutive factors. Clin Immunol 100:107–117
    19. Ketas TJ, Kuhmann SE, Palmer A, Zurita J, He W, Ahuja SK, Klasse PJ, Moore JP (2007) Cell surface expression of CCR5 and other host factors influence the inhibition of HIV-1 infection of human lymphocytes by CCR5 ligands. Virology 364:281–290
    20. Khan IA, Thomas SY, Moretto MM, Lee FS, Islam SA, Combe C, Schwartzman JD, Luster AD (2006) CCR5 is essential for NK cell trafficking and host survival following Toxoplasma gondii infection. PLoS Pathog 2:e49
    21. Kostrikis LG, Huang Y, Moore JP, Wolinsky SM, Zhang L, Guo Y, Deutsch L, Phair J, Neumann AU, Ho DD (1998) A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation. Nat Med 4:350–353
    22. Kostrikis LG, Neumann AU, Thomson B, Korber BT, McHardy P, Karanicolas R, Deutsch L, Huang Y, Lew JF, McIntosh K, Pollack H, Borkowsky W, Spiegel HM, Palumbo P, Oleske J, Bardeguez A, Luzuriaga K, Sullivan J, Wolinsky SM, Koup RA, Ho DD, Moore JP (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 73:10264–10271
    23. Lee B, Sharron M, Montaner LJ, Weissman D, Doms RW (1999) Quantification of CD4, CCR5, and CXCR4 levels on lymphocyte subsets, dendritic cells, and differentially conditioned monocyte-derived macrophages. Proc Natl Acad Sci U S A 96:5215–5220
    24. Li M, Song R, Masciotra S, Soriano V, Spira TJ, Lal RB, Yang C (2005) Association of CCR5 human haplogroup E with rapid HIV type 1 disease progression. AIDS Res Hum Retroviruses 21:111–115
    25. Lin YL, Mettling C, Portales P, Rouzier R, Clot J, Reynes J, Corbeau P (2008) The chemokine CCL5 regulates the in vivo cell surface expression of its receptor, CCR5. AIDS 22:430–432
    26. Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, Horuk R, MacDonald ME, Stuhlmann H, Koup RA, Landau NR (1996) Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 86:367–377
    27. Liu Y, Liu FL, He Y, Li L, Li S, Zheng YT, Wang H, Gong X (2012) The genetic variation of CCR5, CXCR4 and SDF-1 in three Chinese ethnic populations. Infect Genet Evol 12:1072–1078
    28. Magierowska M, Lepage V, Lien TX, Lan NT, Guillotel M, Issafras H, Reynes JM, Fleury HJ, Chi NH, Follezou JY, Debre P, Theodorou I, Barre-Sinoussi F (1999) Novel variant of the CCR5 gene in a Vietnamese population. Microbes Infect 1:123–124
    29. Malhotra R, Hu L, Song W, Brill I, Mulenga J, Allen S, Hunter E, Shrestha S, Tang J, Kaslow RA (2011) Association of chemokine receptor gene (CCR2-CCR5) haplotypes with acquisition and control of HIV-1 infection in Zambians. Retrovirology 8:22
    30. Mamtani M, Mummidi S, Ramsuran V, Pham MH, Maldonado R, Begum K, Valera MS, Sanchez R, Castiblanco J, Kulkarni H, Ndung'u T, He W, Anaya JM, Ahuja SK (2011) Influence of variations in CCL3L1 and CCR5 on tuberculosis in a northwestern Colombian population. J Infect Dis 203:1590–1594
    31. Mangano A, Gonzalez E, Dhanda R, Catano G, Bamshad M, Bock A, Duggirala R, Williams K, Mummidi S, Clark RA, Ahuja SS, Dolan MJ, Bologna R, Sen L, Ahuja SK (2001) Concordance between the CC chemokine receptor 5 genetic determinants that alter risks of transmission and disease progression in children exposed perinatally to human immunodeficiency virus. J Infect Dis 183:1574–1585
    32. Martin MP, Dean M, Smith MW, Winkler C, Gerrard B, Michael NL, Lee B, Doms RW, Margolick J, Buchbinder S, Goedert JJ, O'Brien TR, Hilgartner MW, Vlahov D, O'Brien SJ, Carrington M (1998) Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science 282:1907–1911
    33. Masquelier C, Servais JY, Rusanganwa E, Roman F, Havuga E, Servais J, Tuyizere S, Omes C, Karasi JC, Coruteille O, Karita E, Allen S, Schmit JC, Arendt V (2007) A novel 24-base pair deletion in the coding region of CCR5 in an African population. AIDS 21:111–113
    34. 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 352:866–870
    35. Meditz AL, Haas MK, Folkvord JM, Melander K, Young R, McCarter M, Mawhinney S, Campbell TB, Lie Y, Coakley E, Levy DN, Connick E (2011) HLA-DR+CD38+ CD4+ T lymphocytes have elevated CCR5 expression and produce the majority of R5-tropic HIV-1 RNA in vivo. J Virol 85:10189–10200
    36. Moore JP, Trkola A, Dragic T (1997) Co-receptors for HIV-1 entry. Curr Opin Immunol 9:551–562
    37. Moriuchi H, Moriuchi M, Fauci AS (1997) Cloning and analysis of the promoter region of CCR5, a coreceptor for HIV-1 entry. J Immunol 159:5441–5449
    38. Mummidi S, Bamshad M, Ahuja SS, Gonzalez E, Feuillet PM, Begum K, Galvis MC, Kostecki V, Valente AJ, Murthy KK, Haro L, Dolan MJ, Allan JS, Ahuja SK (2000) Evolution of human and non-human primate CC chemokine receptor 5 gene and mRNA. Potential roles for haplotype 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 275:18946–18961
    39. Nguyen L, Li M, Chaowanachan T, Hu DJ, Vanichseni S, Mock PA, van Griensven F, Martin M, Sangkum U, Choopanya K, Tappero JW, Lal RB, Yang C (2004) CCR5 promoter human haplogroups associated with HIV-1 disease progression in Thai injection drug users. AIDS 18:1327–1333
    40. Niu T, Qin ZS, Xu X, Liu JS (2002) Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. Am J Hum Genet 70:157–169
    41. Ometto L, Bertorelle R, Mainardi M, Zanchetta M, Tognazzo S, Rampon O, Ruga E, Chieco-Bianchi L, De Rossi A (2001) Polymorphisms in the CCR5 promoter region influence disease progression in perinatally human immunodeficiency virus type 1-infected children. J Infect Dis 183:814–818
    42. Ostrowski MA, Justement SJ, Catanzaro A, Hallahan CA, Ehler LA, Mizell SB, Kumar PN, Mican JA, Chun TW, Fauci AS (1998) Expression of chemokine receptors CXCR4 and CCR5 in HIV-1-infected and uninfected individuals. J Immunol 161:3195–3201
    43. Petersen DC, Kotze MJ, Zeier MD, Grimwood A, Pretorius D, Vardas E, van Rensburg EJ, Hayes VM (2001) Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay. AIDS 15:171–177
    44. Picton AC, Paximadis M, Tiemessen CT (2010) Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations. Infect Genet Evol 10:487–494
    45. Picton AC, Shalekoff S, Paximadis M, Tiemessen CT (2012) Marked differences in CCR5 expression and activation levels in two South African populations. Immunology 136:397–407
    46. Platt EJ, Wehrly K, Kuhmann SE, Chesebro B, Kabat D (1998) Effects of CCR5 and CD4 cell surface concentrations on infections by macrophagetropic isolates of human immunodeficiency virus type 1. J Virol 72:2855–2864
    47. Quillent C, Oberlin E, Braun J, Rousset D, Gonzalez-Canali G, Metais P, Montagnier L, Virelizier JL, Arenzana-Seisdedos F, Beretta A (1998) HIV-1-resistance phenotype conferred by combination of two separate inherited mutations of CCR5 gene. Lancet 351:14–18
    48. Reynes J, Portales P, Segondy M, Baillat V, Andre P, Reant B, Avinens O, Couderc G, Benkirane M, Clot J, Eliaou JF, Corbeau P (2000) CD4+ T cell surface CCR5 density as a determining factor of virus load in persons infected with human immunodeficiency virus type 1. J Infect Dis 181:927–932
    49. Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, Saragosti S, Lapoumeroulie C, Cognaux J, Forceille C, Muyldermans G, Verhofstede C, Burtonboy G, Georges M, Imai T, Rana S, Yi Y, Smyth RJ, Collman RG, Doms RW, Vassart G, Parmentier M (1996) Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 382:722–725
    50. Scott-Algara D, Truong LX, Versmisse P, David A, Luong TT, Nguyen NV, Theodorou I, Barre-Sinoussi F, Pancino G (2003) Cutting edge: increased NK cell activity in HIV-1-exposed but uninfected Vietnamese intravascular drug users. J Immunol 171:5663–5667
    51. Shalekoff S, Tiemessen CT (2003) CCR5 delta32 heterozygosity is associated with an increase in CXCR4 cell surface expression. AIDS Res Hum Retroviruses 19:531–533
    52. Shalekoff S, Pendle S, Johnson D, Martin DJ, Tiemessen CT (2001) Distribution of the human immunodeficiency virus coreceptors CXCR4 and CCR5 on leukocytes of persons with human immunodeficiency virus type 1 infection and pulmonary tuberculosis: implications for pathogenesis. J Clin Immunol 21:390–401
    53. Shioda T, Nakayama EE, Tanaka Y, Xin X, Liu H, Kawana-Tachikawa A, Kato A, Sakai Y, Nagai Y, Iwamoto A (2001) Naturally occurring deletional mutation in the C-terminal cytoplasmic tail of CCR5 affects surface trafficking of CCR5. J Virol 75:3462–3468
    54. Singh KK, Hughes MD, Chen J, Phiri K, Rousseau C, Kuhn L, Coutsoudis A, Jackson JB, Guay LA, Musoke P, Mmiro F, Semba RD, Spector SA (2008) Associations of chemokine receptor polymorphisms With HIV-1 mother-to-child transmission in sub-Saharan Africa: possible modulation of genetic effects by antiretrovirals. J Acquir Immune Defic Syndr 49:259–265
    55. Tang J, Shelton B, Makhatadze NJ, Zhang Y, Schaen M, Louie LG, Goedert JJ, Seaberg EC, Margolick JB, Mellors J, Kaslow RA (2002) Distribution of chemokine receptor CCR2 and CCR5 genotypes and their relative contribution to human immunodeficiency virus type 1 (HIV-1) seroconversion, early HIV-1 RNA concentration in plasma, and later disease progression. J Virol 76:662–672
    56. Thapa M, Kuziel WA, Carr DJ (2007) Susceptibility of CCR5-deficient mice to genital herpes simplex virus type 2 is linked to NK cell mobilization. J Virol 81:3704–3713
    57. Tiemessen CT, Shalekoff S, Meddows-Taylor S, Schramm DB, Papathanasopoulos MA, Gray GE, Sherman GG, Coovadia AH, Kuhn L (2009) Cutting edge: unusual NK cell responses to HIV-1 peptides are associated with protection against maternal-infant transmission of HIV-1. J Immunol 182:5914–5918
    58. Tiemessen CT, Shalekoff S, Meddows-Taylor S, Schramm DB, Papathanasopoulos MA, Gray GE, Sherman GG, Coovadia AH, Kuhn L (2010) Natural killer cells that respond to human immunodeficiency virus type 1 (HIV-1) peptides are associated with control of HIV-1 infection. J Infect Dis 202:1444–1453
    59. Uitenbroek DG (1997) SISA-Binomial. http://quantitativeskills.com/sisa/distributions/binomial
    60. Weiss ID, Shoham H, Wald O, Wald H, Beider K, Abraham M, Barashi N, Galun E, Nagler A, Peled A (2011) Ccr5 deficiency regulates the proliferation and trafficking of natural killer cells under physiological conditions. Cytokine 54:249–257
    61. Weissman D, Dybul M, Daucher MB, Davey RT Jr, Walker RE, Kovacs JA (2000) Interleukin-2 up-regulates expression of the human immunodeficiency virus fusion coreceptor CCR5 by CD4+ lymphocytes in vivo. J Infect Dis 181:933–938
    62. Wu L, Paxton WA, Kassam N, Ruffing N, Rottman JB, Sullivan N, Choe H, Sodroski J, Newman W, Koup RA, Mackay CR (1997) CCR5 levels and expression pattern correlate with infectability by macrophage-tropic HIV-1, in vitro. J Exp Med 185:1681–1691
    63. Yang YF, Tomura M, Iwasaki M, Mukai T, Gao P, Ono S, Zou JP, Shearer GM, Fujiwara H, Hamaoka T (2001a) IL-12 as well as IL-2 upregulates CCR5 expression on T cell receptor-triggered human CD4+ and CD8+ T cells. J Clin Immunol 21:116–125
    64. Yang YF, Tomura M, Iwasaki M, Ono S, Zou JP, Uno K, Shearer GM, Fujiwara H, Hamaoka T (2001b) IFN-alpha acts on T-cell receptor-triggered human peripheral leukocytes to up-regulate CCR5 expression on CD4+ and CD8+ T cells. J Clin Immunol 21:402–409
    65. Zou W, Foussat A, Houhou S, Durand-Gasselin I, Dulioust A, Bouchet L, Galanaud P, Levy Y, Emilie D (1999) Acute upregulation of CCR-5 expression by CD4+ T lymphocytes in HIV-infected patients treated with interleukin-2. ANRS 048 IL-2 Study Group. AIDS 13:455–463
  • 作者单位:1. Centre for HIV and STIs, National Institute for Communicable Diseases, Private Bag X4, Sandringham, Johannesburg 2131, South Africa2. Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
  • ISSN:1432-1211
文摘
CCR5 plays a critical and central role in HIV-1 infection and, to date, a number of genetic mutations and haplotypes within the gene have been found to positively or negatively influence an individual’s susceptibility and rate of disease progression. In this study, we have evaluated the influence of CCR5 haplotypes, HHA, HHC, HHD, and HHE, on CCR5 expression in healthy HIV-1 uninfected individuals from two populations, South African Africans (SAA, n = 22) and South African Caucasians (SAC, n = 31). CCR5 haplotypes were determined through sequencing and real time polymerase chain reaction. Flow cytometry was used to quantitate CCR5 surface expression, as both CCR5 density and percentage of CCR5-expressing cells, on B, T, natural killer (NK) cells and monocytes. SAA individuals positive for the HHA haplotype had significantly lower percentages of CCR5-expressing CD8+ T cells in comparison to individuals without HHA (P = 0.001). HHC+ SAC individuals had significantly higher CCR5 molecules per cell (density) on NK (CD56+) and CD16+ CD56+ NK cell subsets (P = 0.030 and P = 0.024, respectively) compared to HHC− SAC individuals. Haplotypes HHD and HHE had no impact on CCR5 expression. Overall, our data highlight that the protective effect of the HHC haplotype in Caucasians might be explained by higher density of CCR5 expression on NK cells that is not evident in HHC+ SAA individuals. Findings raise the question as to the role of CCR5-expressing cells other than CD4+ T cells in protection from HIV-1 acquisition and disease progression.

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