D'Introno Alessia, Solfrizzi Vincenzo, Colacicco Anna Maria, Capurso Cristiano, Amodio Margherita, Todarello Orlando, Capurso Antonio, Kehoe Patrick G, Panza Francesco
Department of Geriatrics, Center for Aging Brain, Memory Unit, University of Bari, Policlinico, Piazza Giulio Cesare, 11 70124 Bari, Italy.
Neurobiol Aging. 2006 Nov;27(11):1537-53. doi: 10.1016/j.neurobiolaging.2005.09.020. Epub 2005 Oct 27.
In the last decade, it has become more apparent the important role genes play in the development of late-onset Alzheimer's disease (AD). Great efforts, involving human genome scans and candidate gene studies, have been given towards identifying susceptibility genes for AD. A number of regions on different chromosomes have been reported to demonstrate linkage for AD. Of these, findings on chromosome 12 are some of the most compelling. Worldwide genetic association studies pre-dating and subsequent to recent linkage studies have identified and focused upon a number of genes that map to the areas of reported linkage on chromosome 12, however, analyses of those genes studied to date, on the whole, remain inconclusive and ambiguous. This paper reviews studies that have provided evidence of linkage for AD on chromosome 12 and in turn discusses the work conducted to date on candidate genes that have been identified and map to the chromosome 12 regions of interest.
在过去十年中,基因在晚发性阿尔茨海默病(AD)发展过程中所起的重要作用变得愈发明显。人们付出了巨大努力,包括进行人类基因组扫描和候选基因研究,以确定AD的易感基因。据报道,不同染色体上的多个区域与AD存在连锁关系。其中,12号染色体上的研究结果最具说服力。在最近的连锁研究之前及之后,全球范围内的基因关联研究已经确定并聚焦于一些定位于12号染色体上报道的连锁区域的基因,然而,总体而言,迄今为止对这些基因的分析仍无定论且含糊不清。本文回顾了那些为12号染色体上AD连锁关系提供证据的研究,进而讨论了迄今为止针对已确定并定位于12号染色体相关区域的候选基因所开展的工作。