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Clinical features, polysomnography, and genetics association study of restless legs syndrome in clinic based Chinese patients: A multicenter observational study

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机构: [1]Division of Sleep Medicine, Peking University People’s Hospital, Beijing, China [2]PKU-UPenn Sleep Center, Peking University International Hospital, Beijing, China [3]Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany [4]The Sleep Center, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [5]Department of Sleep Medicine, People’s Hospital of Guangxi Zhuang Autonomous Region, Nan Ning, China [6]Department of Neurology, Chongqing Traditional Chinese Medicine Hospital, Chongqing, China [7]Department of Neurology, Wuhan First Hospital, Wuhan, China [8]Department of Neurobiology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China [9]Department of Neurology, Yulin No.2 Hospital, Yulin, Shaanxi, China [10]The Sleep Center, People’s Hospital of JinChang, JinChang, Gansu, China [11]The Sleep Center, WeiNan Central Hospital, WeiNan, Shaanxi, China [12]The Sleep Center, Department of Neurology, The First Hospital of Jilin University, Changchun, Jilin, China [13]Sleep Medicine Department, Sanya Central Hospital, The Third People’s Hospital of Hainan, China [14]Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China [15]The Sleep Center, General Hospital of the Yangtze River Shipping, Wuhan, Hubei, China [16]Department of Neurology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China [17]Department of Neurology, The First Hospital of Changsha, Changsha, Hunan, China [18]Department of Neurology, The 2nd Affiliated Hospital of Harbin Medical University, Harbin, China [19]Department of Neurology, Qinhuangdao HaiGang Hospital, Qinhuangdao, Hebei, China
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关键词: Restless legs syndrome Polysomnography SNPs

摘要:
To systemically describe the clinical features, polysomnography (PSG) finding, laboratory tests and single-nucleotide polymorphisms (SNPs) in a clinic based Chinese primary restless legs syndrome (RLS) population.This observational study, conducted from January 2020 to October 2021 across 22 sleep labs in China, recruited 771 patients diagnosed with RLS following the 2014 RLSSG criteria. Clinical data, PSG testing, and laboratory examination and SNPs of patients with RLS were collected. A total of 32 SNPs in 24 loci were replicated using the Asian Screening Array chip, employing data from the Han Chinese Genomes Initiative as controls.In this study with 771 RLS patients, 645 had primary RLS, and 617 has DNA available for SNP study. Among the 645 primary RLS, 59.7% were women. 33% had a family history of RLS, with stronger familial influence in early-onset cases. Clinical evaluations showed 10.4% had discomfort in body parts other than legs. PSG showed that 57.1% of RLS patients had periodic leg movement index (PLMI) of >5/h and 39.1% had PLMI >15/h, respectively; 73.8% of RLS patients had an Apnea-Hypopnea Index (AHI) > 5/h, and 45.3% had an AHI >15/h. The laboratory examinations revealed serum ferritin levels <75 ng/ml in 31.6%, and transferrin saturation (TSAT) of <45% in 88.7% of RLS patients. Seven new SNPs in 5 genes showed a significant allelic association with Chinese primary RLS, with one previously reported (BTBD9) and four new findings (TOX3, PRMT6, DCDC2C, NOS1).Chinese RLS patients has specific characters in many aspects. A high family history with RLS not only indicates strong genetic influence, but also reminds us to consider the familial effect in the epidemiological study. Newly developed sequencing technique with large samples remains to be done.Copyright © 2024 Elsevier B.V. All rights reserved.

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大类 | 2 区 医学
小类 | 2 区 临床神经病学
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Q1 CLINICAL NEUROLOGY
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Q1 CLINICAL NEUROLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2023版] 出版当年五年平均 出版前一年[2022版]

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第一作者机构: [1]Division of Sleep Medicine, Peking University People’s Hospital, Beijing, China
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