Copy number variation of defensin genes and HIV infection in brazilian children

Journal of Acquired Immune Deficiency Syndromes

Volumn 50, Issue 3, 2009, Pages 331-333

  Milanese, Michele ^a   Segat, Ludovica ^a   Arraes, Luiz C ^b   Garzino Demo, Alfredo ^c   Crovella, Sergio ^a,d  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^d FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

Author keywords

Brazilian children; Copy number variation; DEFB104; Defensin; HBD4; HIV; Polymorphisms; Vertical transmission

Indexed keywords

ALPHA DEFENSIN; BETA DEFENSIN; DEFENSIN;

ARTICLE; BIRTH; BRAZIL; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; DEFA3 GENE; DEFA4 GENE; DEFA5 GENE; DEFA6 GENE; DEFA7 GENE; DEFB1 GENE; DEFB103A GENE; DEFB104 GENE; DEFB105 GENE; DEFB106 GENE; DEFB107B GENE; DEFB108 GENE; DEFB4 GENE; FEMALE; GENE; GENE NUMBER; GENETIC VARIABILITY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VERTICAL TRANSMISSION; VIRUS TRANSMISSION; GENETICS;

CHILD; CHILD, PRESCHOOL; DEFENSINS; FEMALE; HIV INFECTIONS; HUMANS; MALE;

EID: 63149173766     PISSN: 15254135     EISSN: None     Source Type: Journal    
DOI: 10.1097/QAI.0b013e3181945f39     Document Type: Article

References (50)

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2. Gonzalez E, Kulkarni H, Bolivar H, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 2005;307:1434-1440.
3. Dolan MJ, Kulkarni H, Camargo JF, et al. CCL3L1 and CCR5 influence cell-mediated immunity and affect HIV-AIDS pathogenesis via viral entry-independent mechanisms. Nat Immunol. 2007;8:1324-1336.
4. Ahuja, SK, Kulkarni H, Catano G, et al. CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nat Med. 2008; 14:413-420.
5. Nakashima H, Yamamoto N, Masuda M, et al. Defensins inhibit HIV replication in vitro. AIDS. 1993;7:1129.
6. Wang W, Owen SM, Rudolph DL, et al. Activity of alpha- and theta-defensins against primary isolates of HIV-1. J Immunol. 2004; 173:515-520.
7. Tanabe H, Ouellette AJ, Cocco MJ, et al. Differential effects on human immunodeficiency virus type 1 replication by alpha-defensins with comparable bactericidal activities. J Virol. 2004;78:11622-11631.
8. Quinones-Mateu ME, Lederman MM, Feng Z, et al. Human epithelial beta-defensins 2 and 3 inhibit HIV-1 replication. AIDS. 2003;17:F39-F48.
9. Sun L, Finnegan CM, Kish-Catalone T, et al. Human beta-defensins suppress human immunodeficiency virus infection: potential role in mucosal protection. J Virol. 2005;79:14318-14329.
10. Ganz T. Defensins and other antimicrobial peptides: a historical perspective and an update. Comb Chem High Throughput Screen. 2005;8:209-217.
11. Huttner KM, Bevins CL. Antimicrobial peptides as mediators of epithelial host defense. Pediatr Res. 1999;45:785-794.
12. Taudien S, Galgoczy P, Huse K, et al. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. BMC Genomics. 2004;5:92.
13. Hollox EJ, Armour JA, Barber JC. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet. 2003;73:591-600.
14. Hollox EJ, Huffmeier U, Zeeuwen PL, et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet. 2008;40: 23-25.
15. Hollox EJ, Davies J, Griesenbach U, et al. Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis. J Negat Results Biomed. 2005;4:9.
16. Fellermann K, Stange DE, Schaeffeler E, et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet. 2006;79: 439-448.
17. Linzmeier RM, Ganz T. Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha-and beta-defensin regions at 8p22-p23. Genomics. 2005;86:423-430.
18. Garzino-Demo A. Chemokines and defensins as HIV suppressive factors: an evolving story. Curr Pharm Des. 2007;13:163-172.
19. Yang D, Biragyn A, Hoover DM, et al. Multiple roles of antimicrobial defensins, cathelicidins, and eosinophil-derived neurotoxin in host defense. Annu Rev Immunol. 2004;22:181-215.
20. Braida L, Boniotto M, Pontillo A, et al. A single-nucleotide polymorphism in the human beta-defensin 1 gene is associated with HIV-1 infection in Italian children. AIDS. 2004;18:1598-1600.
21. Milanese M, Segat L, Pontillo A, et al. DEFB1 gene polymorphisms and increased risk of HIV-1 infection in Brazilian children. AIDS. 2006;20: 1673-1675.
22. Alves-Silva J, da Silva Santos M, Guimaraes PE, et al. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet. 2000;67:444-461.
23. R Development Core Team. R: a language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2008. Available at: http://www.R-project.org.
24. Klotman ME, Chang TL. Defensins in innate antiviral immunity. Nat Rev Immunol. 2006;6:447-456.
25. King AE, Fleming DC, Critchley HO, et al. Differential expression of the natural antimicrobials, beta-defensins 3 and 4, in human endometrium. J Reprod Immunol. 2003;59:1-16.
26. O'Brien SJ, Nelson GW. Human genes that limit AIDS. Nat Genet. 2004; 36:565-574.
27. Gonzalez E, Kulkarni H, Bolivar H, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 2005;307:1434-1440.
28. Dolan MJ, Kulkarni H, Camargo JF, et al. CCL3L1 and CCR5 influence cell-mediated immunity and affect HIV-AIDS pathogenesis via viral entry-independent mechanisms. Nat Immunol. 2007;8:1324-1336.
29. Ahuja, SK, Kulkarni H, Catano G, et al. CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nat Med. 2008; 14:413-420.
30. Nakashima H, Yamamoto N, Masuda M, et al. Defensins inhibit HIV replication in vitro. AIDS. 1993;7:1129.
31. Wang W, Owen SM, Rudolph DL, et al. Activity of alpha- and theta-defensins against primary isolates of HIV-1. J Immunol. 2004; 173:515-520.
32. Tanabe H, Ouellette AJ, Cocco MJ, et al. Differential effects on human immunodeficiency virus type 1 replication by alpha-defensins with comparable bactericidal activities. J Virol. 2004;78:11622-11631.
33. Quinones-Mateu ME, Lederman MM, Feng Z, et al. Human epithelial beta-defensins 2 and 3 inhibit HIV-1 replication. AIDS. 2003;17:F39-F48.
34. Sun L, Finnegan CM, Kish-Catalone T, et al. Human beta-defensins suppress human immunodeficiency virus infection: potential role in mucosal protection. J Virol. 2005;79:14318-14329.
35. Ganz T. Defensins and other antimicrobial peptides: a historical perspective and an update. Comb Chem High Throughput Screen. 2005;8:209-217.
36. Huttner KM, Bevins CL. Antimicrobial peptides as mediators of epithelial host defense. Pediatr Res. 1999;45:785-794.
37. Taudien S, Galgoczy P, Huse K, et al. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. BMC Genomics. 2004;5:92.
38. Hollox EJ, Armour JA, Barber JC. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet. 2003;73:591-600.
39. Hollox EJ, Huffmeier U, Zeeuwen PL, et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet. 2008;40: 23-25.
40. Hollox EJ, Davies J, Griesenbach U, et al. Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis. J Negat Results Biomed. 2005;4:9.
41. Fellermann K, Stange DE, Schaeffeler E, et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet. 2006;79: 439-448.
42. Linzmeier RM, Ganz T. Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha-and beta-defensin regions at 8p22-p23. Genomics. 2005;86:423-430.
43. Garzino-Demo A. Chemokines and defensins as HIV suppressive factors: an evolving story. Curr Pharm Des. 2007;13:163-172.
44. Yang D, Biragyn A, Hoover DM, et al. Multiple roles of antimicrobial defensins, cathelicidins, and eosinophil-derived neurotoxin in host defense. Annu Rev Immunol. 2004;22:181-215.
45. Braida L, Boniotto M, Pontillo A, et al. A single-nucleotide polymorphism in the human beta-defensin 1 gene is associated with HIV-1 infection in Italian children. AIDS. 2004;18:1598-1600.
46. Milanese M, Segat L, Pontillo A, et al. DEFB1 gene polymorphisms and increased risk of HIV-1 infection in Brazilian children. AIDS. 2006;20: 1673-1675.
47. Alves-Silva J, da Silva Santos M, Guimaraes PE, et al. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet. 2000;67:444-461.
48. R Development Core Team. R: a language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2008. Available at: http://www.R-project.org.
49. Klotman ME, Chang TL. Defensins in innate antiviral immunity. Nat Rev Immunol. 2006;6:447-456.
50. King AE, Fleming DC, Critchley HO, et al. Differential expression of the natural antimicrobials, beta-defensins 3 and 4, in human endometrium. J Reprod Immunol. 2003;59:1-16.