Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.
Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.
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DOI：
10.3346/jkms.2012.27.1.107
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发表时间：
2012-01
影响因子：
4.5
通讯作者：
Koh EM
中科院分区：
文献类型：
--
作者：
Ahn JK;Cha HS;Lee J;Jeon CH;Koh EM
拷贝数变异与多种自身免疫性疾病有关。我们研究了韩国白塞氏病（BD）患者与健康对照（HC）样本中编码α-防御素-1的DEFA1基因的拷贝数（CN）。我们招募了55名BD患者和35名HC患者。采用双工Taqman®实时PCR检测CN。多数（31.1%）标本的CN为5，平均CN为5.4±0.2。BD患者与HC患者DEFA1基因CN无显著差异。高DEFA1基因CN与BD患者肠道受累显著相关。在BD患者和HC患者中均观察到不同的DEFA1基因CN， DEFA1基因CN高可能与BD患者肠道受累的易感性相关。
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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影响因子：
--
作者：
YIM, CW;WHITE, RH
通讯作者：
WHITE, RH
影响因子：
2
作者：
Becker, Kristin;FitzGerald, Oliver;Armour, John A. L.
通讯作者：
Armour, John A. L.
影响因子：
27.4
作者：
McKinney, C.;Merriman, M. E.;Merriman, T. R.
通讯作者：
Merriman, T. R.
影响因子：
3.5
作者：
Aldred, PMR;Hollox, EJ;Armour, JAL
通讯作者：
Armour, JAL
DOI：
10.1084/jem.20072413
发表时间：
2008-07-07
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Willcocks LC;Lyons PA;Clatworthy MR;Robinson JI;Yang W;Newland SA;Plagnol V;McGovern NN;Condliffe AM;Chilvers ER;Adu D;Jolly EC;Watts R;Lau YL;Morgan AW;Nash G;Smith KG
通讯作者：
Smith KG