Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease
- Authors
- Ahn, Joong Kyong; Cha, Hoon-Suk; Lee, Jaejoon; Jeon, Chan Hong; Koh, Eun-Mi
- Issue Date
- Jan-2012
- Publisher
- 대한의학회
- Keywords
- Behcet Syndrome; Copy Number Variation; DEFA1 Gene; Intestinal Involvement; Korean
- Citation
- Journal of Korean Medical Science, v.27, no.1, pp 107 - 109
- Pages
- 3
- Journal Title
- Journal of Korean Medical Science
- Volume
- 27
- Number
- 1
- Start Page
- 107
- End Page
- 109
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/15459
- DOI
- 10.3346/jkms.2012.27.1.107
- ISSN
- 1011-8934
1598-6357
- 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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Collections - College of Medicine > Department of Internal Medicine > 1. Journal Articles
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