研究多种系统萎缩症中的 ELOVL7 编码变异。
Investigating ELOVL7 coding variants in multiple system atrophy.
机构信息
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; School of Biological Sciences, University of Manchester, Manchester, UK; Queen Square Institute of Neurology, University College London, London, UK.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
出版信息
Neurosci Lett. 2021 Apr 1;749:135723. doi: 10.1016/j.neulet.2021.135723. Epub 2021 Feb 15.
Multiple system atrophy (MSA) is a rare sporadic, progressive parkinsonism characterised by autonomic dysfunction. A recent genome-wide association study reported an association at the Elongation of Very Long Fatty Acids Protein 7 (ELOVL7) locus with MSA risk. In the current study four independent and unrelated cohorts were assessed, consisting of pathologically confirmed MSA cases, Parkinson's disease (PD) cases, and two unrelated, healthy control groups. All exons of ELOVL7 were sequenced in pathologically confirmed MSA cases; data for PPMI samples and Biobank controls was extracted from whole genome sequence. Coding variants in ELOVL7 were extremely rare, and we observed no significant association of ELOVL7 coding variants with risk of MSA.
多系统萎缩症（MSA）是一种罕见的散发性、进行性帕金森病，其特征为自主功能障碍。最近的全基因组关联研究报告了伸长酶 7（ELOVL7）基因座与 MSA 风险的关联。在目前的研究中，评估了四个独立的、无关的队列，包括经病理证实的 MSA 病例、帕金森病（PD）病例以及两个无关的健康对照组。对经病理证实的 MSA 病例中的 ELOVL7 所有外显子进行了测序；从全基因组序列中提取了 PPMI 样本和生物银行对照的数据。ELOVL7 中的编码变异极为罕见，我们没有观察到 ELOVL7 编码变异与 MSA 风险的显著关联。
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