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首页> 外文期刊>Annals of Human Genetics >Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci
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Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci

机译：最近确定的阿尔茨海默氏病风险位点的致病机制的初步评估

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Recent genome wide association studies have identified CLU, CR1, ABCA7 BIN1, PICALM and MS4A6A/MS4A6E in addition to the long established APOE, as loci for Alzheimer's disease. We have systematically examined each of these loci to assess whether common coding variability contributes to the risk of disease. We have also assessed the regional expression of all the genes in the brain and whether there is evidence of an eQTL explaining the risk. In agreement with other studies we find that coding variability may explain the ABCA7 association, but common coding variability does not explain any of the other loci. We were not able to show that any of the loci had eQTLs within the power of this study. Furthermore the regional expression of each of the loci did not match the pattern of brain regional distribution in Alzheimer pathology. Although these results are mainly negative, they allow us to start defining more realistic alternative approaches to determine the role of all the genetic loci involved in Alzheimer's disease. ? 2013 Blackwell Publishing Ltd/University College London.
机译：最近的全基因组关联研究已将CLU，CR1，ABCA7 BIN1，PICALM和MS4A6A / MS4A6E以及早已建立的APOE鉴定为阿尔茨海默氏病的基因座。我们已经系统地检查了这些基因座中的每一个，以评估常见的编码变异性是否会导致疾病风险。我们还评估了大脑中所有基因的区域表达，并评估了是否有eQTL证据可以解释这种风险。与其他研究一致，我们发现编码变异性可以解释ABCA7关联，但是常见编码变异性不能解释任何其他基因座。我们无法证明该研究范围内的任何基因座均具有eQTL。此外，在阿尔茨海默氏病中，每个基因座的区域表达与脑区域分布的模式都不匹配。尽管这些结果主要是负面的，但它们使我们能够开始定义更现实的替代方法，以确定涉及阿尔茨海默氏病的所有遗传基因座的作用。 ？ 2013布莱克韦尔出版有限公司/伦敦大学学院。

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