1] State Key Laboratory of Genetic Engineering and Ministry of Education (MOE), Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China [2] Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China.
Genes Immun. 2013 Dec;14(8):500-3. doi: 10.1038/gene.2013.46. Epub 2013 Sep 19.
Ankylosing spondylitis (AS) is a chronic inflammatory disease with complex genetic traits. Multiple sequence variations have been associated with AS, but explained only a proportion of heritability. The studies herein aimed to explore potential associations between genomic copy number (CN) variation (CNV) and AS in Han Chinese. Five AS patients were examined with the high-density comparative genomic hybridization microarrays in the first screen test for AS-associated CNVs. A total of 533 AS patients and 792 unrelated controls were examined in confirmation studies with the AccuCopy assays. A significant association was observed between the CNV of HLA-DQA1 and that of AS. Compared with controls, AS patients showed an aberrant CN, and a significantly increased number of patients had more than two copies of HLA-DQA1. Therefore, the CNV of HLA-DQA1 may have an important role in susceptibility to AS in the Han Chinese population.
强直性脊柱炎（AS）是一种具有复杂遗传特征的慢性炎症性疾病。多个序列变异与 AS 相关，但仅能解释一部分遗传率。本文旨在探讨中国汉族人群中基因组拷贝数（CN）变异（CNV）与 AS 之间的潜在关联。在针对 AS 相关 CNV 的第一筛选试验中，对 5 名 AS 患者进行了高密度比较基因组杂交微阵列检查。在确认研究中，用 AccuCopy 测定法检查了 533 名 AS 患者和 792 名无关对照者。HLA-DQA1 的 CNV 与 AS 之间存在显著相关性。与对照组相比，AS 患者的 CN 异常，且有显著更多的患者具有两个以上的 HLA-DQA1 拷贝。因此，HLA-DQA1 的 CNV 可能在汉族人群中对 AS 的易感性中起重要作用。
Zotero 插件