Schumacher Axel, Friedrich Patricia, Diehl Janine, Ibach Bernd, Schoepfer-Wendels Andreas, Mueller Jakob C, Konta Lidija, Laws Simon M, Kurz Alexander, Foerstl Hans, Riemenschneider Matthias
Neurochemistry and Neurogenetics Laboratory, Department of Psychiatry, TU-Munich, Germany.
Neurobiol Aging. 2009 Feb;30(2):333-5. doi: 10.1016/j.neurobiolaging.2007.05.023. Epub 2007 Jul 5.
Mutations in the gene for valosin containing protein (VCP) cause autosomal dominant inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD). To investigate the role of this novel gene in sporadic forms of frontotemporal dementia (FTD), we genotyped 27 single nucleotide polymorphisms covering the entire VCP genomic region in 198 patients with sporadic FTD and 184 matched controls from Germany. No significant association could be demonstrated. There is no evidence, that common variants in VCP confer a strong risk to the development of sporadic FTD.
含缬酪肽蛋白（VCP）基因的突变会导致与佩吉特病及额颞叶痴呆相关的常染色体显性包涵体肌病（IBMPFD）。为了研究这个新基因在散发性额颞叶痴呆（FTD）中的作用，我们对198例散发性FTD患者和184名来自德国的匹配对照者进行了基因分型，这些对照者覆盖了整个VCP基因组区域的27个单核苷酸多态性。未发现显著关联。没有证据表明VCP中的常见变异会给散发性FTD的发展带来很大风险。
