Neurodegenerative Brain Diseases, Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Neurodegenerative Brain Diseases, Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Trends Genet. 2022 Mar;38(3):258-272. doi: 10.1016/j.tig.2021.08.010. Epub 2021 Sep 14.
Neurodegenerative brain diseases (NBDs) are characterized by cognitive decline and movement impairments caused by neuronal loss in different brain regions. A large fraction of the genetic heritability of NBDs is not explained by the current known mutations. Genome-wide association studies identified novel disease-risk loci, adding to the genetic basis of NBDs. Many of the associated variants reside in noncoding regions with distinct molecular functions. Genetic variation in these regions can alter functions and contribute to disease pathogenesis. Here, we discuss noncoding variants associated with NBDs. Methods for better functional interpretation of noncoding variation will expand our knowledge of the genetic architecture of NBDs and broaden the routes for therapeutic strategies.
神经退行性脑疾病（NBDs）的特征是不同脑区神经元丧失导致认知能力下降和运动功能障碍。目前已知的突变并不能解释 NBD 遗传易感性的很大一部分。全基因组关联研究确定了新的疾病风险位点，增加了 NBD 的遗传基础。许多相关的变异位于具有不同分子功能的非编码区域。这些区域的遗传变异可以改变功能并导致疾病发生。在这里，我们讨论与 NBD 相关的非编码变异。更好地对非编码变异进行功能解释的方法将扩展我们对 NBD 遗传结构的认识，并拓宽治疗策略的途径。
