Copy number variation within human β-defensin gene cluster influences progression to AIDS in the multicenter AIDS cohort study

Journal of AIDS and Clinical Research

Volumn 3, Issue 10, 2012, Pages

  Mehlotra, Rajeev K ^a   Dazard, Jean Eudes ^a   John, Bangan ^a   Zimmerman, Peter A ^a   Weinberg, Aaron ^b   Jurevic, Richard J ^b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Defensin; AIDS progression; DEFB103A; DEFB4; MACS; X4 emergence

Indexed keywords

EID: 84879808685     PISSN: None     EISSN: 21556113     Source Type: Journal    
DOI: 10.4172/2155-6113.1000184     Document Type: Article

References (37)

1. Ishimoto H, Mukae H, Date Y, Shimbara T, Mondal MS, et al. (2006) Identification of hBD-3 in respiratory tract and serum: the increase in pneumonia. Eur Respir J 27: 253-260.
2. Jansen PA, Rodijk-Olthuis D, Hollox EJ, Kamsteeg M, Tjabringa GS, et al. (2009) Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin. PLoS One 4: e4725.
3. Lippross S, Klueter T, Steubesand N, Oestern S, Mentlein R, et al. (2012) Multiple trauma induces serum production of host defence peptides. Injury 43: 137-142.
4. Vordenbäumen S, Fischer-Betz R, Timm D, Sander O, Chehab G, et al. (2010) Elevated levels of human beta-defensin 2 and human neutrophil peptides in systemic lupus erythematosus. Lupus 19: 1648-1653.
5. Groth M, Szafranski K, Taudien S, Huse K, Mueller O, et al. (2008) Highresolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes. Hum Mutat 29: 1247-1254.
6. Hollox EJ, Armour JA, Barber JC (2003) Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 73: 591-600.
7. Quiñones-Mateu ME, Lederman MM, Feng Z, Chakraborty B, Weber J, et al. (2003) Human epithelial beta-defensins 2 and 3 inhibit HIV-1 replication. AIDS 17: F39-48.
8. Sun L, Finnegan CM, Kish-Catalone T, Blumenthal R, Garzino-Demo P, et al. (2005) Human beta-defensins suppress human immunodeficiency virus infection: potential role in mucosal protection. J Virol 79: 14318-14329.
9. Feng Z, Dubyak GR, Lederman MM, Weinberg A (2006) Cutting edge: human beta defensin 3--a novel antagonist of the HIV-1 coreceptor CXCR4. J Immunol 177: 782-786.
10. Alkhatib G (2009) The biology of CCR5 and CXCR4. Curr Opin HIV AIDS 4: 96-103.
11. Cavarelli M, Scarlatti G (2009) Phenotype variation in human immunodeficiency virus type 1 transmission and disease progression. Dis Markers 27: 121-136.
12. Mosier DE (2009) How HIV changes its tropism: evolution and adaptation? Curr Opin HIV AIDS 4: 125-130.
13. Briz V, Poveda E, del Mar González M, Martín-Carbonero L, González R, et al. (2008) Impact of antiretroviral therapy on viral tropism in HIV-infected patients followed longitudinally for over 5 years. J Antimicrob Chemother 61: 405-410.
14. Esbjörnsson J, Månsson F, Martínez-Arias W, Vincic E, Biague AJ, et al. (2010) Frequent CXCR4 tropism of HIV-1 subtype A and CRF02_AG during late-stage disease--indication of an evolving epidemic in West Africa. Retrovirology 7: 23.
15. Green TN, Archary M, Gordon ML, Padayachi N, Lie Y, et al. (2012) Drug resistance and coreceptor usage in HIV type 1 subtype C-infected children initiating or failing highly active antiretroviral therapy in South Africa. AIDS Res Hum Retroviruses 28: 324-332.
16. Lin NH, Smeaton LM, Giguel F, Novitsky V, Moyo S, et al. (2011) Prevalence and clinical associations of CXCR4-using HIV-1 among treatment-naive subtype C-infected women in Botswana. J Acquir Immune Defic Syndr 57: 46-50.
17. Saracino A, Monno L, Cibelli DC, Punzi G, Brindicci G, et al. (2009) Co-receptor switch during HAART is independent of virological success. J Med Virol 81: 2036-2044.
18. Shepherd JC, Jacobson LP, Qiao W, Jamieson BD, Phair JP, et al. (2008) Emergence and persistence of CXCR4-tropic HIV-1 in a population of men from the multicenter AIDS cohort study. J Infect Dis 198: 1104-1112.
19. Linzmeier RM, Ganz T (2005) Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha-and beta-defensin regions at 8p22-p23. Genomics 86: 423-430.
20. Mehlotra RK, Zimmerman PA, Weinberg A, Jurevic RJ (2012) Variation in human β-defensin genes: new insights from a multi-population study. Int J Immunogenet (In press).
21. Dempster AP, Laird NM, Rubin DB (1977) Maximum likelihood from incomplete data via the EM algorithm. J R Stat Soc Series B Stat Methodol 39: 1-38.
22. Cox DR, Stuart A (1955) Some quick tests for trend and dispersion. Biometrika 42: 80-95.
23. Akritas MG, Murphy SA, LaValley MP (1995) The Theil-Sen estimator with doubly censored data and applications to astronomy. J Am Statist Assoc 90: 170-177.
24. Kaplan EL, Meier P (1958) Nonparametric estimation from incomplete observations. J Am Statist Assoc 53: 457-481.
25. Cox DR (1972) Regression models and life-tables. J R Stat Soc Series B Stat Methodol 34: 187-220.
26. Poropatich K, Sullivan DJ Jr (2011) Human immunodeficiency virus type 1 longterm non-progressors: the viral, genetic and immunological basis for disease non-progression. J Gen Virol 92: 247-268.
27. Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, et al. (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307: 1434-1440.
28. Kuhn L, Schramm DB, Donninger S, Meddows-Taylor S, Coovadia AH, et al. (2007) African infants' CCL3 gene copies influence perinatal HIV transmission in the absence of maternal nevirapine. AIDS 21: 1753-1761.
29. Liu S, Yao L, Ding D, Zhu H (2010) CCL3L1 copy number variation and susceptibility to HIV-1 infection: a meta-analysis. PLoS One 5: e15778.
30. Shostakovich-Koretskaya L, Catano G, Chykarenko ZA, He W, Gornalusse G, et al. (2009) Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children. AIDS 23: 679-688.
31. Pelak K, Need AC, Fellay J, Shianna KV, Feng S, et al. (2011) Copy number variation of KIR genes influences HIV-1 control. PLoS Biol 9: e1001208.
32. Hardwick RJ, Amogne W, Mugusi S, Yimer G, Ngaimisi E, et al. (2012) β-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-saharan Africans. J Infect Dis 206: 1012-1019.
33. Milanese M, Segat L, Arraes LC, Garzino-Demo A, Crovella S (2009) Copy number variation of defensin genes and HIV infection in Brazilian children. J Acquir Immune Defic Syndr 50: 331-333.
34. Hollox EJ (2008) Copy number variation of beta-defensins and relevance to disease. Cytogenet Genome Res 123: 148-155.
35. Raymond S, Delobel P, Izopet J (2012) Phenotyping methods for determining HIV tropism and applications in clinical settings. Curr Opin HIV AIDS 7: 463-469.
36. Trabaud MA, Icard V, Scholtes C, Perpoint T, Koffi J, et al. (2012) Discordance in HIV-1 co-receptor use prediction by different genotypic algorithms and phenotype assay: intermediate profile in relation to concordant predictions. J Med Virol 84: 402-413.
37. Vandekerckhove L, Verhofstede C, Demecheleer E, De Wit S, Florence E, et al. (2011) Comparison of phenotypic and genotypic tropism determination in tripleclass-experienced HIV patients eligible for maraviroc treatment. J Antimicrob Chemother 66: 265-272.