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.
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

Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There were only several reports about Behcet's disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcet's disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcet's disease and a review of the literatures. To the authors' knowledge, this is the first case ever reported in Korea.
Adult ; Anemia, Aplastic/complications/*diagnosis ; Behcet Syndrome/complications/*diagnosis/genetics ; Bone Marrow/pathology ; Chromosomes, Human, Pair 8 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Intestinal Diseases/complications/*diagnosis/genetics ; Karyotyping ; Tomography, X-Ray Computed ; *Trisomy