Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians

Lupus

Volumn 21, Issue 6, 2012, Pages 625-631

  Sandrin Garcia, P ^a   Brandao L A C ^a   Guimaraes R L ^a   Pancoto, J A T ^b   Donadi, E A ^b   Lima Filho, Jl De ^a   Segat, L ^c   Crovella, S ^d  

^a FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

Author keywords

DEFB1; defensins; genetic polymorphisms; SNPs; Systemic lupus erythematosus

Indexed keywords

DNA ANTIBODY;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BRAZIL; CLINICAL FEATURE; CONTROLLED STUDY; DEFB1 GENE; DISEASE PREDISPOSITION; FEMALE; GENE; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROPSYCHIATRY; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADOLESCENT; ADULT; AGED; BETA-DEFENSINS; BRAZIL; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; YOUNG ADULT;

EID: 84859899741     PISSN: 09612033     EISSN: 14770962     Source Type: Journal    
DOI: 10.1177/0961203312436858     Document Type: Article

References (30)

1. Rahman A, Isenberg DA. Systemic lupus erythematosus. N Engl J Med. 2008 ; 358: 929-939
2. Sthoeger ZM, Bezalel S, Chapnik N, et al. High alpha-defensin levels in patients with systemic lupus erythematosus. Immunology. 2008 ; 127: 116-122
3. Froy O, Sthoeger ZM. Defensins in systemic lupus erythematosus. Ann N Y Acad Sci. 2009 ; 1173: 365-369
4. Carroll MC. A protective role for innate immunity in systemic lupus erythematosus. Nat Rev Immunol. 2004 ; 4: 825-831
5. Bensch KW, Raida M, Magert HJ, et al. hBD 1: a novel beta defensin from human plasma. FEBS Lett. 1995 ; 368: 331-335
6. Harder J, Siebert R, Zhang Y, et al. Mapping of the gene encoding human beta defensin 2 (DEFB2) to chromosome region 8p22-p23.1. Genomics. 1997 ; 46: 472-475
7. Jurevic RJ, Chrisman P, Mancl L, et al. Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations. Genet Test. 2002 ; 6: 261-269
8. Milanese M, Segat L, Crovella S. Transcriptional effect of DEFB1 gene 5' untranslated region polymorphisms. Cancer Res. 2007 ; 67: 5997-5997
9. Sun CQ, Arnold R, Fernandez-Golarz C, et al. Human beta-defensin-1, a potential chromosome 8p tumor suppressor: control of transcription and induction of apoptosis in renal cell carcinoma. Cancer Res. 2006 ; 66: 8542-8549
10. Vargas AE, Marrero AR, Salzano FM, et al. Frequency of CCR5delta32 in Brazilian populations. Braz J Med Biol Res. 2006 ; 39: 321-325
11. Veit TD, Cordero EA, Mucenic T, et al. Association of the HLA-G 14 bp polymorphism with systemic lupus erythematosus. Lupus. 2009 ; 18: 424-430
12. 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
13. Jurevic RJ, Bai M, Chadwick RB, et al. Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol. 2003 ; 41: 90-96
14. Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005 ; 21: 263-265
15. Faul F, Erdfelder E, Lang AG, Buchner A. G.*Power 3: A flexible statistical power analysis for the social, behavioral, and biomedical sciences. Behavior Research Methods. 2007 ; 39: 175-191
16. Segat L, Guimarães RL, Brandão LA, et al. Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco). Int J Dermatol. 2010 ; 49: 653-657
17. Prado-Montes de Oca E, García-Vargas A, Lozano-Inocencio R, et al. Association of beta-defensin 1 single nucleotide polymorphisms with atopic dermatitis. Int Arch Allergy Immunol. 2007 ; 142: 211-218
18. Kim E, Lee JE, Namkung JH, et al. Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. J Dermatol Sci. 2009 ; 54: 25-30
19. Levy H, Raby BA, Lake S, et al. Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol. 2005 ; 115: 252-258
20. Leung TF, Li CY, Liu EK, et al. Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children. Genes Immun. 2006 ; 7: 59-64
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. Guimarães RL, Segat L, Rocha CR, et al. Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children. Autoimmunity. 2009 ; 42: 406-413
23. Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet. 2001 ; 2: 91-99
24. Naslavsky MS, Crovella S, Lima Filho JL, et al. The sound of silence: human beta-defensin-1 gene untranslated SNPs change the predicted mRNA secondary structure in a length-dependent manner. Immunol Lett. 2010 ; 129: 53-55
25. Kalus AA, Fredericks LP, Hacker BM, et al. Association of a genetic polymorphism (-44 C/G SNP) in the human DEFB1 gene with expression and inducibility of multiple beta-defensins in gingival keratinocytes. BMC Oral Health. 2009 ; 27: 9-21
26. Kreuter A, Jaouhar M, Skrygan M, et al. Expression of antimicrobial peptides in different subtypes of cutaneous lupus erythematosus. J Am Acad Dermatol. 2011 ; 65: 125-133
27. Tamiya H, Tani K, Miyata J, et al. Defensins- and cathepsin G-ANCA in systemic lupus erythematosus. Rheumatol Int. 2006 ; 27: 147-152
28. Ishii T, Onda H, Tanigawa A, et al. Isolation and expression profiling of genes upregulated in the peripheral blood cells of systemic lupus erythematosus patients. DNA Res. 2005 ; 12: 429-439
29. Bennett L, Palucka AK, Arce E, et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med. 2003 ; 197: 711-723
30. Vordenbäumen S, Fischer-Betz R, Timm D, et al. Elevated levels of human beta-defensin 2 and human neutrophil peptides in systemic lupus erythematosus. Lupus. 2010 ; 19: 1648-1653