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

• Ahn JK
• Cha HS
• Lee J
• Jeon CH
• Koh EM

• KMID: 1792990
• DOI: http://doi.org/10.3346/jkms.2012.27.1.107

Abstract

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.

Keyword

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

MeSH Terms

Adult
Behcet Syndrome/*complications/*genetics
Female
Gene Dosage
Genetic Predisposition to Disease
Genotype
Humans
Intestinal Diseases/*etiology/*genetics
Male
Middle Aged
Real-Time Polymerase Chain Reaction
alpha-Defensins/*genetics

Figure

• 

  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.

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