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首页> 外文期刊>Genomics >Increased CNV-Region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample
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Increased CNV-Region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample

机译：ADNI样本中轻度认知障碍（MCI）和阿尔茨海默氏病（AD）受试者的CNV区域缺失增加

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We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initiative (ADNI) sample (146 with AD, 313 with Mild Cognitive Impairment (MCI), and 181 controls).Comparison of single CNVs between cases (MCI and AD) and controls shows overrepresentation of large heterozygous deletions in cases (p-value. <. 0.0001). The analysis of CNV-Regions identifies 44 copy number variable loci of heterozygous deletions, with more CNV-Regions among affected than controls (p. =.0.005). Seven of the 44 CNV-Regions are nominally significant for association with cognitive impairment. We validated and confirmed our main findings with genome re-sequencing of selected patients and controls. The functional pathway analysis of the genes putatively affected by deletions of CNV-Regions reveals enrichment of genes implicated in axonal guidance, cell-cell adhesion, neuronal morphogenesis and differentiation. Our findings support the role of CNVs in AD, and suggest an association between large deletions and the development of cognitive impairment.
机译：我们调查了阿尔茨海默氏病（AD）神经影像倡议（ADNI）样本中的CNV的全基因组分布（146例患有AD，313例患有轻度认知障碍（MCI）和181例对照）。病例之间单个CNV的比较（MCI和AD）和对照显示病例中大杂合缺失的过度表达（p值<0.0001）。 CNV区域的分析确定了44个杂合缺失的拷贝数可变位点，受影响的CNV区域比对照组多（p = 0.005）。在44个CNV地区中，有七个在名义上与认知障碍相关。我们通过对选定患者和对照进行基因组重测序验证并证实了我们的主要发现。对可能受CNV-Regions缺失影响的基因的功能途径分析表明，涉及轴突引导，细胞间粘附，神经元形态发生和分化的基因富集。我们的研究结果支持CNV在AD中的作用，并暗示大缺失与认知障碍发展之间的关联。

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