Correlation of DEFA1 gene copy number variation with intestinal involvement in behcet's disease

Journal of Korean Medical Science

Volumn 27, Issue 1, 2012, Pages 107-109

  Ahn, Joong Kyong ^a   Cha, Hoon Suk ^b   Lee, Jaejoon ^b   Jeon, Chan Hong ^c   Koh, Eun Mi ^b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Soonchunhyang University College of Medicine   (South Korea)

Author keywords

Behcet syndrome; Copy number variation; DEFA1 gene; Intestinal involvement; Korean

Indexed keywords

ALPHA DEFENSIN; DEFENSIN 1;

ADULT; ARTICLE; BEHCET DISEASE; ENTEROPATHY; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; MALE; MIDDLE AGED; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; ALPHA-DEFENSINS; BEHCET SYNDROME; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTESTINAL DISEASES; MALE; MIDDLE AGED; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84863175095     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2012.27.1.107     Document Type: Article

References (19)

1. Sakane T, Takeno M, Suzuki N, Inaba G. Behçet's disease. N Engl J Med 1999; 341: 1284-91.
2. Ahn JK, Cha HS, Koh EM, Kim SH, Kim YG, Lee CK, Yoo B. Behcet's disease associated with bone marrow failure in Korean patients: clinical characteristics and the association of intestinal ulceration and trisomy 8. Rheumatology (Oxford) 2008; 47: 1228-30.
3. Masatlioglu S, Seyahi E, Tahir Turanli E, Fresko I, Gogus F, Senates E, Oguz Savran F, Yazici H. A twin study in Behçet's syndrome. Clin Exp Rheumatol 2010; 28: S62-6.
4. Verity DH, Marr JE, Ohno S, Wallace GR, Stanford MR. Behçet's disease, the Silk Road and HLA-B51: historical and geographical perspectives. Tissue Antigens 1999; 54: 213-20.
5. Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med 2007; 9: 600-6.
6. Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA, Plagnol V, McGovern NN, Condliffe AM, Chilvers ER, Adu D, Jolly EC, Watts R, Lau YL, Morgan AW, Nash G, Smith KG. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 2008; 205: 1573-82.
7. McKinney C, Merriman ME, Chapman PT, Gow PJ, Harrison AA, Highton J, Jones PB, McLean L, O'Donnell JL, Pokorny V, Spellerberg M, Stamp LK, Willis J, Steer S, Merriman TR. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis 2008; 67: 409-13.
8. Wain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and disease. Lancet 2009; 374: 340-50.
9. Becker K, Fitzgerald O, Green AJ, Keogan M, Newbury-Ecob R, Greenhalgh L, Withers S, Hollox EJ, Aldred PM, Armour JA. Constitutional trisomy 8 and Behçet's syndrome. Am J Med Genet A 2009; 149A: 982-6.
10. Nathan C. Neutrophils and immunity: challenges and opportunities. Nat Rev Immunol 2006; 6: 173-82.
11. Ganz T. Defensins: antimicrobial peptides of innate immunity. Nat Rev Immunol 2003; 3: 710-20.
12. International Study Group for Behçet's Disease. Criteria for diagnosis of Behçet's disease. Lancet 1990; 335: 1078-80.
13. Aldred PM, Hollox EJ, Armour JA. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. Hum Mol Genet 2005; 14: 2045-52.
14. 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: 423-30.
15. Yang D, Biragyn A, Kwak LW, Oppenheim JJ. Mammalian defensins in immunity: more than just microbicidal. Trends Immunol 2002; 23: 291-6.
16. Chaly YV, Paleolog EM, Kolesnikova TS, Tikhonov II, Petratchenko EV, Voitenok NN. Neutrophil alpha-defensin human neutrophil peptide modulates cytokine production in human monocytes and adhesion molecule expression in endothelial cells. Eur Cytokine Netw 2000; 11: 257-66.
17. Jespersgaard C, Fode P, Dybdahl M, Vind I, Nielsen OH, Csillag C, Munkholm P, Vainer B, Riis L, Elkjaer M, Pedersen N, Knudsen E, Andersen PS. Alpha-Defensin DEFA1A3 Gene Copy Number Elevation in Danish Crohn's Disease Patients. Dig Dis Sci 2011; 56: 3517-24.
18. Yim CW, White RH. Behçet's syndrome in a family with inflammatory bowel disease. Arch Intern Med 1985; 145: 1047-50.
19. Pay S, Simşek I, Erdem H, Dinç A. Immunopathogenesis of Behçet's disease with special emphasize on the possible role of antigen presenting cells. Rheumatol Int 2007; 27: 417-24.