ArticleJournal of Korean medical science2012
Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.
Article in Journal of Korean medical science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- An Update Evolving View of Copy Number Variations in Autoimmune Diseases.Frontiers in genetics · 2021Review
- Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2016Article
- Methylation Status of Alu and LINE-1 Interspersed Repetitive Sequences in Behcet's Disease Patients.BioMed research international · 2016Article
- Copy number variants and genetic polymorphisms in TBX21, GATA3, Rorc, Foxp3 and susceptibility to Behcet's disease and Vogt-Koyanagi-Harada syndrome.Scientific reports · 2015Article
- Diagnosis and management of intestinal Behçet's disease.Clinical journal of gastroenterology · 2014Review
- Article
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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