Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.
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.
Department of Internal Medicine, Kangbuk Samsung Hospital, Seoul, Korea.
Joong Kyong
JK
Ahn
Hoon-Suk
HS
Cha
Jaejoon
J
Lee
Chan Hong
CH
Jeon
Eun-Mi
EM
Koh
D000328:Adult; D001528:Behcet Syndrome / Q000150:complications* / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007410:Intestinal Diseases / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D060888:Real-Time Polymerase Chain Reaction; D023084:alpha-Defensins / Q000235:genetics*
D023084:alpha-Defensins; C406413:human neutrophil peptide 1