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超越全球大脑差异:在1q21.1远程和15q11.2BP1-BP2删除载体中的个人内可变性差异

Rune Boen¹, Tobias Kaufmann², Dennis van der Meer³

¹Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Biological psychiatry

|September 3, 2023

概括

在1q21.1和15q11.2的副本数变异影响区域大脑结构,超出全球差异. 这项研究揭示了携带者的特定区域大脑变化,增强了对神经发育机制的理解.

科学领域:

神经成像是一种神经成像.
遗传学是一个遗传学.
发育神经科学的发展神经科学.

背景情况:

在1q21.1和15q11.2中的副本数变异 (CNV) 与大脑差异有关.
区分区域性和全球性脑部变化的CNV载体对于解释至关重要.
测量个体内变异性提供了一种方法来隔离区域效应.

研究的目的:

为了研究1q21.1远端和15q11.2BP1-BP2 CNVs的载体的区域大脑差异.
为了确定区域性大脑变化是否独立于全球大脑大小差异存在.
为了为这些遗传变异提供更细微的脑部形状.

主要方法:

利用磁共振成像 (MRI) 数据从1q21.1远端删除/重复和15q11.2BP1-BP2删除/重复的载体,以及匹配的非载体.
计算区域内偏差得分,以评估与全球大脑差异的偏差.
分析了特定大脑区域的皮质表面积和皮质厚度.

主要成果:

1q21.1 删除载体在皮层表面积 (例如,中间视觉皮层,前额皮层) 中显示出明显的区域差异.
15q11.2删除载体在特定区域 (例如,中间视觉皮质,听觉皮质,前额皮质) 呈现出改变的皮质厚度.
删除和重复载体都表现出与全球大脑差异不同的区域大脑效应.

结论:

证据支持1q21.1和15q11.2 CNV载体的区域大脑影响超出全球措施.
这些发现有助于更精细地了解与这些CNV相关的大脑特征.
这项研究可能会进一步了解由这些遗传变异影响的神经发育机制.

关键词:

15q11.2 BP1 - BP2 的情况 1q21.1 遥远的距离部分大脑结构大脑结构副本编号变体的变体在个体内部的变化.磁共振成像技术磁共振成像技术

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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...