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与年龄相关的白质病变的遗传学:从连锁分析到全基因组关联研究。

Genetics of age-related white matter lesions from linkage to genome wide association studies.

机构信息

Institute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, A-8010 Graz, Harrachgasse 21, Austria.

出版信息

J Neurol Sci. 2012 Nov 15;322(1-2):82-6. doi: 10.1016/j.jns.2012.06.016. Epub 2012 Jul 15.

DOI:10.1016/j.jns.2012.06.016
PMID:22795385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3484396/
Abstract

White matter lesions are a frequent phenomenon in the elderly and contribute to the development of disability. The mechanisms underlying these brain lesions are still not fully understood with age and hypertension being the most well established risk factors. The heritability of white matter lesions is consistently high in different populations. Candidate gene studies strongly support the role of genes involved in the renin-angiotensin system, as well as Notch3 signaling. The recent genome wide association study by the CHARGE consortium identified a novel locus on chromosome 17q25 harboring several genes such as TRIM65 and TRIM47 which pinpoint to possible novel mechanisms leading to white matter lesions.

摘要

脑白质病变是老年人的一种常见现象,也是导致残疾的主要原因。尽管年龄和高血压是最常见的发病因素,但这些脑损伤的发病机制仍不完全清楚。在不同人群中,脑白质病变的遗传性一直很高。候选基因研究强烈支持涉及肾素-血管紧张素系统和 Notch3 信号的基因的作用。最近由 CHARGE 联盟进行的全基因组关联研究确定了 17q25 染色体上的一个新基因座,其中包含几个基因,如 TRIM65 和 TRIM47,这可能为导致脑白质病变的新机制提供了线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f02/3484396/28b6a7ff2729/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f02/3484396/28b6a7ff2729/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f02/3484396/28b6a7ff2729/gr1.jpg

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