J Korean Med Sci.  2012 Jan;27(1):107-109. 10.3346/jkms.2012.27.1.107.

Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease

  • 1Department of Internal Medicine, Kangbuk Samsung Hospital, Seoul, Korea.
  • 2Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. hoonsuk.cha@samsung.com
  • 3Department of Internal Medicine, Soonchunhyang University College of Medicine, Seoul, Korea.


Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding alpha-defensin-1 in samples from Korean individuals with Behcet's disease (BD) compared to healthy controls (HC). We recruited 55 BD patients and 35 HC. A duplex Taqman(R) real-time PCR assay was used to assess CN. Most samples (31.1%) had a CN of 5 with a mean CN of 5.4 +/- 0.2. There was no significant difference in the CN of the DEFA1 gene between BD patients and HC. A high DEFA1 gene CN was significantly associated with intestinal involvement in BD patients. Variable DEFA1 gene CNs were observed in both BD patients and HC and a high DEFA1 gene CN may be associated with susceptibility to intestinal involvement in BD.


Behcet Syndrome; Copy Number Variation; DEFA1 Gene; Intestinal Involvement; Korean

MeSH Terms

Behcet Syndrome/*complications/*genetics
Gene Dosage
Genetic Predisposition to Disease
Intestinal Diseases/*etiology/*genetics
Middle Aged
Real-Time Polymerase Chain Reaction


  • Fig. 1 Copy numbers of the DEFA1 gene encoding α-defensin-1 in 55 Koreans with Behcet's disease and 35 ethnically-matched healthy controls.


1. Sakane T, Takeno M, Suzuki N, Inaba G. Behçet'S disease. N Engl J Med. 1999. 341:1284–1291.
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. 47:1228–1230.
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–S66.
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. 54:213–220.
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. 9:600–606.
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. 205:1573–1582.
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. 67:409–413.
8. Wain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and disease. Lancet. 2009. 374:340–350.
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:982–986.
10. Nathan C. Neutrophils and immunity: challenges and opportunities. Nat Rev Immunol. 2006. 6:173–182.
11. Ganz T. Defensins: antimicrobial peptides of innate immunity. Nat Rev Immunol. 2003. 3:710–720.
12. International Study Group for Behçet's Disease. Criteria for diagnosis of Behçet's disease. Lancet. 1990. 335:1078–1080.
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. 14:2045–2052.
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. 86:423–430.
15. Yang D, Biragyn A, Kwak LW, Oppenheim JJ. Mammalian defensins in immunity: more than just microbicidal. Trends Immunol. 2002. 23:291–296.
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. 11:257–266.
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. 56:3517–3524.
18. Yim CW, White RH. Behçet's syndrome in a family with inflammatory bowel disease. Arch Intern Med. 1985. 145:1047–1050.
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. 27:417–424.
Full Text Links
  • JKMS
export Copy
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr