| Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis. | |
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MedLine Citation:
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PMID: 22302058 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Objective. Evidence shows that defensins are involved in the pathogenesis of SLE and ANCA-associated small vasculitis (AASV). The copy number variation of DEFB4 has been proposed to be susceptible to inflammatory disorders. This study aims to investigate whether the DEFB4 genomic copy number variations associate with the susceptibility to these two autoimmune diseases.Methods. A total of 1178 Chinese people were enrolled, including Panel 1 comprising 240 SLE patients and 275 matched controls, Panel 2 comprising 303 SLE patients and 248 matched controls and Panel 3 with 112 AASV patients. The DEFB4 copy number was typed by a paralogue ratio test (PRT), and all the subjects in Panel 1 were also typed using the restriction enzyme digest variant ratio (REDVR) for validation.Results. The results from PRT and REDVR were highly concordant (R = 0.911, P = 3.85 × 10(-199)) and allowed copy numbers to be assigned into integer classes with high confidence. Comparison of mean DEFB4 copy number revealed a small increase in cases with SLE both in Panel 1 (P = 0.063) and Panel 2 (P = 0.017). When pooling Panels 1 and 2 together, the association was reinforced (P = 0.002) in SLE. Such association was also observed in AASV (P = 0.009).Conclusion. We found that a higher DEFB4 gene copy number was associated with both SLE and AASV. |
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Authors:
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Xu-Jie Zhou; Fa-Juan Cheng; Ji-Cheng Lv; Huan Luo; Feng Yu; Min Chen; Ming-Hui Zhao; Hong Zhang |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-2-1 |
Journal Detail:
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Title: Rheumatology (Oxford, England) Volume: - ISSN: 1462-0332 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-2-3 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100883501 Medline TA: Rheumatology (Oxford) Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Renal Division, Peking University First Hospital, Peking University Institute of Nephrology and Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, People's Republic of China. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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