Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease.
10.3346/jkms.2012.27.1.107
- Author:
Joong Kyong AHN
1
;
Hoon Suk CHA
;
Jaejoon LEE
;
Chan Hong JEON
;
Eun Mi KOH
Author Information
1. Department of Internal Medicine, Kangbuk Samsung Hospital, Seoul, Korea.
- Publication Type:Brief Communication ; Research Support, Non-U.S. Gov't
- Keywords:
Behcet Syndrome;
Copy Number Variation;
DEFA1 Gene;
Intestinal Involvement;
Korean
- MeSH:
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
- From:Journal of Korean Medical Science
2012;27(1):107-109
- CountryRepublic of Korea
- Language:English
-
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.
