A genome-wide, whole brain approach to investigate genetic effects on neuroimaging phenotypes for identifying quantitative trait loci is described. The Alzheimer's Disease Neuroimaging Initiative 1.5 T MRI and genetic dataset was investigated using voxel-based morphometry (VBM) and FreeSurfer parcellation followed by genome-wide association studies (GWAS). One hundred forty-two measures of grey matter (GM) density, volume, and cortical thickness were extracted from baseline scans. GWAS, using PLINK, were performed on each phenotype using quality-controlled genotype and scan data including 530,992 of 620,903 single nucleotide polymorphisms (SNPs) and 733 of 818 participants (175 AD, 354 amnestic mild cognitive impairment, MCI, and 204 healthy controls, HC). Hierarchical clustering and heat maps were used to analyze the GWAS results and associations are reported at two significance thresholds (p<10(-7) and p<10(-6)). As expected, SNPs in the APOE and TOMM40 genes were confirmed as markers strongly associated with multiple brain regions. Other top SNPs were proximal to the EPHA4, TP63 and NXPH1 genes. Detailed image analyses of rs6463843 (flanking NXPH1) revealed reduced global and regional GM density across diagnostic groups in TT relative to GG homozygotes. Interaction analysis indicated that AD patients homozygous for the T allele showed differential vulnerability to right hippocampal GM density loss. NXPH1 codes for a protein implicated in promotion of adhesion between dendrites and axons, a key factor in synaptic integrity, the loss of which is a hallmark of AD. A genome-wide, whole brain search strategy has the potential to reveal novel candidate genes and loci warranting further investigation and replication.

译文

描述了一种全基因组的全脑方法,用于研究遗传对神经成像表型的影响,以识别数量性状基因座。使用基于体素的形态计量学 (VBM) 和FreeSurfer parcellation,然后进行全基因组关联研究 (GWAS),研究了阿尔茨海默氏病神经影像学倡议1.5 T MRI和遗传数据集。从基线扫描中提取了一百四十二项灰质 (GM) 密度,体积和皮质厚度的量度。使用PLINK对每种表型进行GWAS,使用质量控制的基因型和扫描数据,包括620,903单核苷酸多态性 (snp) 的530,992和818参与者的733 (175 AD,354遗忘轻度认知障碍,MCI和204健康对照,HC)。使用分层聚类和热图来分析GWAS结果,并在两个显着性阈值 (p<10(-7) 和p<10(-6)) 处报告关联。正如预期的那样,APOE和tom40基因中的snp被确认为与多个大脑区域强烈相关的标记。其他顶级snp靠近EPHA4,TP63和NXPH1基因。rs6463843 (侧翼NXPH1) 的详细图像分析显示,相对于GG纯合子,TT组的全球和区域GM密度降低。交互作用分析表明,T等位基因纯合的AD患者对右海马GM密度损失表现出不同的脆弱性。NXPH1编码与促进树突和轴突之间的粘附有关的蛋白质,这是突触完整性的关键因素,其丧失是AD的标志。全基因组的全脑搜索策略有可能揭示新的候选基因和基因座,值得进一步研究和复制。

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