β-Defensin genomic copy number is associated with HIV load and immune reconstitution in sub-Saharan Africans

Journal of Infectious Diseases

Volumn 206, Issue 7, 2012, Pages 1012-1019

  Hardwick, Robert J ^a   Amogne, Wondwossen ^b,c   Mugusi, Sabina ^d,e   Yimer, Getnet ^b,e   Ngaimisi, Eliford ^e,f   Habtewold, Abiy ^b,e   Minzi, Omary ^f   Makonnen, Eyasu ^b   Janabi, Mohammed ^g   MacHado, Lee R ^a   Viskaduraki, Maria ^a   Mugusi, Ferdinand ^g   Aderaye, Getachew ^b   Lindquist, Lars ^c   Hollox, Edward J ^a   Aklillu, Eleni ^e  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b ADDIS ABABA UNIVERSITY   (Ethiopia)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d MUHIMBILI NATIONAL HOSPITAL   (Tanzania)

^e KAROLINSKA INSTITUTE   (Sweden)

^f School of Pharmacy   (Tanzania)

^g MUHIMBILI UNIVERSITY OF HEALTH AND ALLIED SCIENCES   (Tanzania)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DEFENSIN; CHEMOKINE RECEPTOR CCR6; EFAVIRENZ PLUS LAMIVUDINE PLUS STAVUDINE; EFAVIRENZ PLUS LAMIVUDINE PLUS TENOFOVIR DISOPROXIL; EFAVIRENZ PLUS LAMIVUDINE PLUS ZIDOVUDINE; ETHAMBUTOL; ISONIAZID; NONNUCLEOSIDE REVERSE TRANSCRIPTASE INHIBITOR; PYRAZINAMIDE; RIFAMPICIN; UNCLASSIFIED DRUG;

AFRICA; ANTIVIRAL ACTIVITY; ARTICLE; BETA DEFENSIN GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; ETHIOPIAN; ETHNIC GROUP; GENE; HIGHLY ACTIVE ANTIRETROVIRAL THERAPY; HUMAN; HUMAN CELL; HUMAN IMMUNODEFICIENCY VIRUS; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNE RECONSTITUTION; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; MIXED INFECTION; PRIORITY JOURNAL; PROTEIN FUNCTION; TANZANIAN; TH17 CELL; TUBERCULOSIS; VIRUS LOAD;

ANTI-HIV AGENTS; ANTIRETROVIRAL THERAPY, HIGHLY ACTIVE; BETA-DEFENSINS; CD4 LYMPHOCYTE COUNT; COINFECTION; ETHIOPIA; GENE DOSAGE; GENETIC ASSOCIATION STUDIES; GENOME, HUMAN; HIV INFECTIONS; HUMANS; LIKELIHOOD FUNCTIONS; RECEPTORS, CCR5; SEQUENCE DELETION; TANZANIA; TUBERCULOSIS, PULMONARY; VIRAL LOAD;

EID: 84866101364     PISSN: 00221899     EISSN: None     Source Type: Journal    
DOI: 10.1093/infdis/jis448     Document Type: Article

References (34)

1. An P, Winkler CA. Host genes associated with HIV/AIDS: advances in gene discovery. Trends Genet 2010; 26:119-31.
2. Petrovski S, Fellay J, Shianna KV, et al. Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. Aids 2011; 25:513-18.
3. Locke DP, Sharp AJ, McCarroll SA, et al. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 2006; 79:275-90. (Pubitemid 44141826)
4. Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature 2009; 464:704-12.
5. Wain LV, Armour JAL, Tobin MD. Genomic copy number variation, human health, and disease. Lancet 2009; 374:340-50.
6. Pelak K, Need AC, Fellay J, et al. Copy number variation of KIR genes influences HIV-1 control. PLoS Biol 2011; 9:e1001208.
7. Townson JR, Barcellos LF, Nibbs RJB. Gene copy number regulates the production of the human chemokine CCL3 L1. Euro J Immunol 2002; 32:3016-26. (Pubitemid 35238195)
8. Ahuja SK, Kulkarni H, Catano G, et al. CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nature Med 2008; 14:413-20. (Pubitemid 351499392)
9. Gonzalez E, Kulkarni H, Bolivar H, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005; 307:1434-40. (Pubitemid 40321934)
10. Bhattacharya T, Stanton J, Kim EY, et al. CCL3L1 and HIV/AIDS susceptibility. Nature Med 2009; 15:1112-5.
11. Urban TJ, Weintrob AC, Fellay J, et al. CCL3L1 and HIV/AIDS susceptibility. Nature Med 2009; 15:1110-2.
12. Field SF, Howson JMM, Maier LM, et al. Experimental aspects of copy number variant assays at CCL3L1. Nature Med 2009; 15:1115-7.
13. Aldhous MC, Abu Bakar S, Prescott NJ, et al. Measurement methods and accuracy in copy number variation: failure to replicate associations of β-defensin copy number with Crohn's disease. Hum Mol Genet 2010; 19:4930-8.
14. Fode P, Jespersgaard C, Hardwick RJ, et al. Determination of beta-de-fensin genomic copy number in different populations: a comparison of three methods. PloS One 2011; 6:e16768.
15. Ganz T. Defensins: antimicrobial peptides of innate immunity. Nature Rev Immunol 2003; 3:710-20. (Pubitemid 41070812)
16. Hollox EJ, Armour JAL, Barber JCK. Extensive normal copy number variation of a β-defensin antimicrobial-gene cluster. Am J Hum Genet 2003; 73:591-600. (Pubitemid 37076271)
17. Jansen PAM, Rodijk-Olthuis D, Hollox EJ, et al. β-Defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin. PloS One 2009; 4: e4725.
18. Quiñones-Mateu ME, Lederman MM, Feng Z, et al. Human epithelial β-defensins 2 and 3 inhibit HIV-1 replication. AIDS 2003; 17:F39.
19. Röhrl J, Yang D, Oppenheim JJ, Hehlgans T. Specific binding and che-motactic activity of mBD4 and its functional orthologue hBD2 to CCR6-expressing cells. J Biol Chem 2010; 285:7028-34.
20. Hollox EJ, Huffmeier U, Zeeuwen PLJM, et al. Psoriasis is associated with increased β-defensin genomic copy number. Nature Genet 2008; 40:23-25.
21. Corbeau P, Reynes J. Immune reconstitution under antiretroviral therapy: the new challenge in HIV-1 infection. Blood 2011; 117:5582-90.
22. Mugusi S, Janabi M, Mugusi F, et al. Risk factors for mortality among HIV positive patients with and without active TB in Dar es Salaam, Tanzania. Antiviral Ther 2012; 17:265-74.
23. Hardwick RJ, Machado LR, Zuccherato LW, et al. A worldwide analysis of β defensin copy number variation suggests recent selection of a high expressing DEFB103 gene copy in East Asia. Human Mutat
24. Barnes C, Plagnol V, Fitzgerald T, et al. A robust statistical method for case-control association testing with copy number variation. Nature Genet 2008; 40:1245-52.
25. Fisher RA. Statistical Methods for Research Workers Oliver and Boyd. Edinburgh, UK: 1954.
26. Sokal R, Rohlf F. Biometry. 3. San Francisco: WA Freeman, 1995.
27. Dean M, Carrington M, Winkler C, et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science 1996; 273:1856-62. (Pubitemid 26322495)
28. Martinson JJ, Chapman NH, Rees DC, Liu YT, Clegg JB. Global distribution of the CCR5 gene 32-basepair deletion. Nature Genet 1997; 16:100-3. (Pubitemid 27198165)
29. Ledergerber B, Egger M, Opravil M, et al. Clinical progression and virological failure on highly active antiretroviral therapy in HIV-1 patients: a prospective cohort study. Lancet 1999; 353: 863-8. (Pubitemid 29126872)
30. Yamazaki T, Yang XO, Chung Y, et al. CCR6 regulates the migration of inflammatory and regulatory T cells. J Immunol 2008; 181:8391-8401.
31. Ghannam S, Dejou C, Pedretti N, et al. CCL20 and β-Defensin-2 induce arrest of human Th17 cells on inflamed endothelium in vitro under flow conditions. J Immunol 2011; 186:1411-20.
32. Gosselin A, Monteiro P, Chomont N, et al. Peripheral blood CCR4+ CCR6+ and CXCR3+ CCR6+ CD4+ T cells are highly permissive to HIV-1 infection. J Immunol 2010; 184:1604-16.
33. Zeng M, Smith AJ, Wietgrefe SW, et al. Cumulative mechanisms of lymphoid tissue fibrosis and T cell depletion in HIV-1 and SIV infections. J Clin Inves 2011; 121:998-1008.
34. Di Cesare A, Di Meglio P, Nestle FO. The IL-23/Th17 axis in the immunopathogenesis of psoriasis. J Inves Dermatol 2009; 129: 1339-50.