Genetic heterogeneity on sleep disorders in Parkinson's disease: a systematic review and meta-analysis.
Genetic heterogeneity on sleep disorders in Parkinson's disease: a systematic review and meta-analysis.
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DOI：
10.1186/s40035-022-00294-1
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发表时间：
2022-04-08
影响因子：
12.6
通讯作者：
Shang H
中科院分区：
文献类型：
--
作者：
Huang J;Cheng Y;Li C;Shang H
越来越多的证据表明，帕金森病（PD）致病基因的变异在PD和前驱期睡眠障碍的发生中起着重要作用。在这篇文章中，我们的目的是调查遗传学在帕金森病患者和无症状携带者在帕金森病前驱期睡眠障碍中的作用。基于MEDLINE、EMBASE和PsychINFO数据库，对观察性研究进行了系统综述和荟萃分析。通过比值比（OR）和标准平均差（SMD）计算汇总效应量。选取40篇文献进行定量分析，包括17篇关于葡萄糖脑苷脂酶（GBA）的研究，25篇关于富含亮氨酸重复序列激酶2（LRRK 2）的研究，7篇关于parkin（PRKN）基因的研究，3篇关于α-突触核蛋白基因（SNCA）的研究进行定性分析。携带GBA变体的PD患者患快速眼动行为障碍（RBD）的风险显着更高（OR，1.82），RBD筛查问卷评分也更高（SMD，0.33）。无症状GBA变异携带者在随访期间RBD的严重程度较高。携带LRRK 2 G2019 S变异的PD患者与不携带LRRK 2 G2019 S的患者相比，RBD的风险和严重程度较低。GBA，LRRK 2和PRKN的变体并没有增加或减少PD患者白天过度嗜睡和不宁腿综合征的风险和严重程度。我们的研究结果表明，遗传异质性在PD和PD前驱期的睡眠障碍，主要是RBD的发展中起作用。在线版本包含补充材料，可通过10.1186/s40035-022-00294-1获得。
A growing amount of evidence has indicated contributions of variants in causative genes of Parkinson’s disease (PD) to the development of sleep disturbance in PD and prodromal PD stages. In this article, we aimed to investigate the role of genetics in sleep disorders in PD patients and asymptomatic carriers at prodromal stage of PD. A systematic review and meta-analysis of observational studies was conducted based on the MEDLINE, EMBASE and PsychINFO databases. A pooled effect size was calculated by odds ratio (OR) and standard mean difference (SMD). Forty studies were selected for quantitative analysis, including 17 studies on glucocerebrosidase (GBA), 25 studies on Leucine-rich repeat kinase 2 (LRRK2) and 7 on parkin (PRKN) genes, and 3 studies on alpha-synuclein gene (SNCA) were used for qualitative analysis. Patients with PD carrying GBA variants had a significantly higher risk for rapid-eye-movement behavior disorders (RBD) (OR, 1.82) and higher RBD Screening Questionnaire scores (SMD, 0.33). Asymptomatic carriers of GBA variants had higher severity of RBD during follow-up. Patients with PD carrying the LRRK2 G2019S variant had lower risk and severity of RBD compared with those without LRRK2 G2019S. Variants of GBA, LRRK2 and PRKN did not increase or decrease the risk and severity of excessive daytime sleepiness and restless legs syndrome in PD. Our findings suggest that the genetic heterogeneity plays a role in the development of sleep disorders, mainly RBD, in PD and the prodromal stage of PD. The online version contains supplementary material available at 10.1186/s40035-022-00294-1.
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影响因子：
8.6
作者：
Alcalay, Roy N.;Mirelman, Anat;Saunders-Pullman, Rachel;Tang, Ming-X;Mejia Santana, Helen;Raymond, Deborah;Roos, Ernest;Orbe-Reilly, Martha;Gurevich, Tanya;Bar Shira, Anat;Weisz, Mali Gana;Yasinovsky, Kira;Zalis, Maayan;Thaler, Avner;Deik, Andres;Barrett, Matthew James;Cabassa, Jose;Groves, Mark;Hunt, Ann L.;Lubarr, Naomi;San Luciano, Marta;Miravite, Joan;Palmese, Christina;Sachdev, Rivka;Sarva, Harini;Severt, Lawrence;Shanker, Vicki;Swan, Matthew Carrington;Soto-Valencia, Jeannie;Johannes, Brooke;Ortega, Robert;Fahn, Stanley;Cote, Lucien;Waters, Cheryl;Mazzoni, Pietro;Ford, Blair;Louis, Elan;Levy, Oren;Rosado, Llency;Ruiz, Diana;Dorovski, Tsvyatko;Pauciulo, Michael;Nichols, William;Orr-Urtreger, Avi;Ozelius, Laurie;Clark, Lorraine;Giladi, Nir;Bressman, Susan;Marder, Karen S.
通讯作者：
Marder, Karen S.
影响因子：
29
作者：
Kalia, Lorraine V.;Lang, Anthony E.;Hazrati, Lili-Naz;Fujioka, Shinsuke;Wszolek, Zbigniew K.;Dickson, Dennis W.;Ross, Owen A.;Van Deerlin, Vivianna M.;Trojanowski, John Q.;Hurtig, Howard I.;Alcalay, Roy N.;Marder, Karen S.;Clark, Lorraine N.;Gaig, Carles;Tolosa, Eduardo;Ruiz-Martinez, Javier;Marti-Masso, Jose F.;Ferrer, Isidre;Lopez de Munain, Adolfo;Goldman, Samuel M.;Schuele, Birgitt;Langston, J. William;Aasly, Jan O.;Giordana, Maria T.;Bonifati, Vincenzo;Puschmann, Andreas;Canesi, Margherita;Pezzoli, Gianni;De Paula, Andre Maues;Hasegawa, Kazuko;Duyckaerts, Charles;Brice, Alexis;Stoessl, A. Jon;Marras, Connie
通讯作者：
Marras, Connie
影响因子：
2.7
作者：
Bonner, N.;Bozzi, S.;Reaney, M.
通讯作者：
Reaney, M.
影响因子：
3.9
作者：
Kielb, Stephanie;Kisanuki, Yaz Y.;Dawson, Erica
通讯作者：
Dawson, Erica
睡眠习惯和失眠的全基因组关联研究。
DOI：
10.1002/ajmg.b.32168
发表时间：
2013-07
影响因子：
2.8
作者：
Byrne, Enda M.;Gehrman, Philip R.;Medland, Sarah E.;Nyholt, Dale R.;Heath, Andrew C.;Madden, Pamela A. F.;Hickie, Ian B.;Van Duijn, Cornelia M.;Henders, Anjali K.;Montgomery, Grant W.;Martin, Nicholas G.;Wray, Naomi R.
通讯作者：
Wray, Naomi R.