快速眼动睡眠行为障碍中家族性帕金森病基因的综合分析
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
作者信息
Mufti Kheireddin, Rudakou Uladzislau, Yu Eric, Krohn Lynne, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Högl Birgit, Stefani Ambra, Holzknecht Evi, Šonka Karel, Kemlink David, Oertel Wolfgang, Janzen Annette, Plazzi Giuseppe, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, Cochen De Cock Valérie, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Ziv
机构信息
Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
出版信息
Mov Disord. 2021 Jan;36(1):235-240. doi: 10.1002/mds.28318. Epub 2020 Oct 1.
BACKGROUND
There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD).
OBJECTIVE
To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD.
METHODS
Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests.
RESULTS
We found no association between rare heterozygous variants in the tested genes and risk of iRBD. Several homozygous and compound heterozygous carriers were identified, yet there was no overrepresentation in iRBD patients versus controls.
CONCLUSION
Our results do not support a major role for variants in these genes in the risk of iRBD. © 2020 International Parkinson and Movement Disorder Society.
背景
孤立性快速眼动睡眠行为障碍（iRBD）与帕金森病（PD）的遗传背景仅有部分重叠。
目的
研究常染色体显性和隐性PD或非典型帕金森综合征基因在iRBD发病风险中的作用。
方法
对1039例iRBD患者和1852例欧洲血统对照者的10个基因进行全序列测序，这些基因包括隐性基因PRKN、DJ-1（PARK7）、PINK1、VPS13C、ATP13A2、FBXO7和PLA2G6以及显性基因LRRK2、GCH1和VPS35，随后进行关联测试。
结果
我们发现所检测基因中的罕见杂合变异与iRBD发病风险之间无关联。鉴定出了若干纯合和复合杂合携带者，但与对照组相比，iRBD患者中并无过多此类携带者。
结论
我们的结果不支持这些基因中的变异在iRBD发病风险中起主要作用。© 2020国际帕金森和运动障碍协会。
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