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KMID : 0191120120270010107
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Journal of Korean Medical Science
2012 Volume.27 No. 1 p.107 ~ p.109
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Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease
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Ahn Joong-Kyong
Cha Hoon-Suk
Lee Jae-Joon
Jeon Chan-Hong
Koh Eun-Mi
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Abstract
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Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding α-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® 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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KEYWORD
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Behcet Syndrome, Copy Number Variation, DEFA1 Gene, Intestinal Involvement, Korean
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