The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis.
作者信息
Jenne Dieter E, Aries Peer M, Einwächter Simon, Akkad Amer D, Wieczorek Stefan, Lamprecht Peter, Gross Wolfgang L
出版信息
Ann Rheum Dis. 2007 Sep;66(9):1266-7. doi: 10.1136/ard.2006.065987.
Abstract
摘要
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The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis.肿瘤坏死因子超家族1A基因的低 penetrance R92Q 突变既不是韦格纳肉芽肿病的主要危险因素，也不是多发性硬化症的主要危险因素。 （注：penetrance在医学遗传学中常译为“外显率”，但结合语境这里保留英文更合适，因为专业术语翻译出来可能会让读者产生困惑，除非有专业背景知识）
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本文引用的文献
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Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.肿瘤坏死因子超家族1A基因中P46L和R92Q替换的临床意义
Ann Rheum Dis. 2006 Sep;65(9):1158-62. doi: 10.1136/ard.2005.048611. Epub 2006 Mar 28.
2
Stable incidence of primary systemic vasculitides over five years: results from the German vasculitis register.原发性系统性血管炎五年的稳定发病率：来自德国血管炎登记处的结果
Arthritis Rheum. 2005 Feb 15;53(1):93-9. doi: 10.1002/art.20928.
3
Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease.白塞病患者中R92Q TNFRSF1A突变与颅外深静脉血栓形成的关联
Arthritis Rheum. 2005 Feb;52(2):608-11. doi: 10.1002/art.20873.
4
Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS).肿瘤坏死因子受体相关周期性综合征（TRAPS）中的小血管血管炎和复发性脂膜炎。
Ann Rheum Dis. 2004 Nov;63(11):1518-20. doi: 10.1136/ard.2003.016733.
5
Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement.伴有中枢神经系统受累的肿瘤坏死因子受体相关周期性综合征（TRAPS）
Ann Rheum Dis. 2004 Oct;63(10):1356-7. doi: 10.1136/ard.2003.016006.
6
Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness--the ECTIM, AXA, EVA and GENIC Studies.肿瘤坏死因子受体1基因R92Q多态性与心肌梗死及颈动脉内膜中层厚度的关系——ECTIM、AXA、EVA和GENIC研究
Eur J Hum Genet. 2004 Mar;12(3):213-9. doi: 10.1038/sj.ejhg.5201143.
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The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.肿瘤坏死因子受体相关周期性综合征（TRAPS）：自身炎症性疾病的新观念
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Eur Neurol. 2001;46(3):153-5. doi: 10.1159/000050789.
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A polymorphic microsatellite marker in the human p55 TNF receptor, CD120a.人类p55肿瘤坏死因子受体（CD120a）中的一个多态性微卫星标记。
Genes Immun. 2000 Feb;1(3):228-30. doi: 10.1038/sj.gene.6363663.
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Genetic variants in the tumor necrosis factor receptor 1 gene in patients with MS.多发性硬化症患者肿瘤坏死因子受体1基因中的遗传变异
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