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Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Diseaseopen access
- Authors
- Ahn, JK[Ahn, Joong Kyong]; Cha, HS[Cha, Hoon-Suk]; Lee, J[Lee, Jaejoon]; Jeon, CH[Jeon, Chan Hong]; Koh, EM[Koh, Eun-Mi]
- Issue Date
- Jan-2012
- Publisher
- KOREAN ACAD MEDICAL SCIENCES
- Keywords
- Behcet Syndrome; Copy Number Variation; DEFA1 Gene
- Citation
- JOURNAL OF KOREAN MEDICAL SCIENCE, v.27, no.1, pp.107 - 109
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- JOURNAL OF KOREAN MEDICAL SCIENCE
- Volume
- 27
- Number
- 1
- Start Page
- 107
- End Page
- 109
- ISSN
- 1011-8934
- 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.
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