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自闭症谱系障碍中神经免疫发育障碍的结构、遗传和功能特征。

Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder.

机构信息

Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America.

出版信息

PLoS One. 2012;7(12):e48835. doi: 10.1371/journal.pone.0048835. Epub 2012 Dec 4.

DOI:10.1371/journal.pone.0048835
PMID:23239965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3514226/
Abstract

BACKGROUND

Numerous linkage studies have been performed in pedigrees of Autism Spectrum Disorders, and these studies point to diverse loci and etiologies of autism in different pedigrees. The underlying pattern may be identified by an integrative approach, especially since ASD is a complex disorder manifested through many loci.

METHOD

Autism spectrum disorder (ASD) was studied through two different and independent genome-scale measurement modalities. We analyzed the results of copy number variation in autism and triangulated these with linkage studies.

RESULTS

Consistently across both genome-scale measurements, the same two molecular themes emerged: immune/chemokine pathways and developmental pathways.

CONCLUSION

Linkage studies in aggregate do indeed share a thematic consistency, one which structural analyses recapitulate with high significance. These results also show for the first time that genomic profiling of pathways using a recombination distance metric can capture pathways that are consistent with those obtained from copy number variations (CNV).

摘要

背景

许多连锁研究已在自闭症谱系障碍的家族中进行，这些研究指出了不同家族中自闭症的不同位置和病因。通过综合方法可以确定潜在的模式，特别是因为自闭症是一种通过多个位置表现出来的复杂疾病。

方法

通过两种不同且独立的基因组规模测量方式研究自闭症谱系障碍。我们分析了自闭症中的拷贝数变异的结果，并将这些结果与连锁研究进行了三角剖分。

结果

在这两种基因组规模的测量中，都出现了相同的两个分子主题：免疫/趋化因子途径和发育途径。

结论

总体而言，连锁研究确实具有主题一致性，结构分析以很高的显著性再现了这一主题一致性。这些结果还首次表明，使用重排距离度量对途径进行基因组分析可以捕获与从拷贝数变异 (CNV) 获得的途径一致的途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/adc449704d32/pone.0048835.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/ab7b6db395ec/pone.0048835.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/3d709cd48d1c/pone.0048835.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/bb603cb57532/pone.0048835.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/a24ee1fa0286/pone.0048835.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/514e4c6ea18d/pone.0048835.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/adc449704d32/pone.0048835.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/ab7b6db395ec/pone.0048835.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/3d709cd48d1c/pone.0048835.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/bb603cb57532/pone.0048835.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/a24ee1fa0286/pone.0048835.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/514e4c6ea18d/pone.0048835.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ea7/3514226/adc449704d32/pone.0048835.g006.jpg

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