SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population
SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population
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SNCA 变异 rs2736990 和 rs356220 是中国人群帕金森病的危险因素，但不是肌萎缩侧索硬化症和多系统萎缩的危险因素
DOI：
10.1016/j.neurobiolaging.2014.07.014
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发表时间：
2014-12-01
影响因子：
4.2
通讯作者：
Shang, Hui-Fang
中科院分区：
文献类型：
--
作者：
Guo, Xiao Yan;Chen, Yong Ping;Shang, Hui-Fang
先前的研究发现，α-突触核蛋白（SNCA）基因中的多态性rs 2736990和rs356220增加了高加索人群中帕金森病（PD）的风险。考虑到PD、肌萎缩侧索硬化（ALS）和多系统萎缩（MSA）的临床表现和病理特征的重叠，在中国人群中研究了这2个多态性与3种神经退行性疾病的可能关联。共研究了1011例PD，778例散发性ALS（SALS），264例MSA患者和721例健康对照（HC）。使用聚合酶链反应和直接测序对所有受试者的2种多态性进行基因分型。在PD患者和HC之间观察到rs 2736990和rs356220的基因型频率（分别为p = 0.0188和0.0064）和次要等位基因频率（MAF）（分别为p = 0.0065和0.0095）的显著差异。此外，早发性PD患者（< 50岁）与匹配对照组之间存在显著差异，但晚发性PD患者（>= 50岁）之间无显著差异。然而，在临床特征方面，如性别、发作症状（震颤或强直）、认知（正常或异常）以及焦虑和抑郁（存在或不存在），未观察到亚组之间的差异。两种单核苷酸多态性的基因型频率和MAF在SALS患者和HC之间以及MSA患者和HC之间均无显著差异。在SALS和MSA的临床表现方面，未发现亚组之间的显著差异。我们的研究结果表明，在中国人群中，SNCA中的rs 2736990和rs356220降低了PD的风险。这些候选多态性不太可能是该人群中SALS和MSA的原因。(C)2014爱思唯尔公司All rights reserved.
Previous studies found that polymorphisms rs2736990 and rs356220 in the alpha-synuclein (SNCA) gene increase the risk for Parkinson's disease (PD) in a Caucasian population. In consideration of the overlapping of clinical manifestations and pathologic characteristics among PD, amyotrophic lateral sclerosis (ALS), and multiple system atrophy (MSA), the possible associations of these 2 polymorphisms and 3 neurodegenerative diseases were studied in the Chinese population. A total of 1011 PD, 778 sporadic ALS (SALS), 264 MSA patients, and 721 healthy controls (HCs) were studied. All subjects were genotyped for the 2 polymorphisms using polymerase chain reaction and direct sequencing. Significant differences in the genotype frequencies (p = 0.0188 and 0.0064, respectively) and minor allele frequencies (MAFs) (p = 0.0065 and 0.0095, respectively) of rs2736990 and rs356220 were observed between the PD patients and HCs. Moreover, significant differences were found between the early-onset PD patients (< 50 years) and matched controls but not in the late-onset PD patients (>= 50 years). However, no differences were observed between subgroups with regard to clinical features, such as sex, onset symptoms (tremor or rigidity), cognition (normal or abnormal), and anxiety and depression (presence or absence). No significant differences were found in the genotype frequencies and MAFs of these 2 single-nucleotide polymorphisms between SALS patients and HCs and between MSA patients and HCs. No significant differences were found between subgroups with regard to the clinical presentation of SALS and MSA. Our results show that rs2736990 and rs356220 in SNCA decreased the risk for PD in a Chinese population. These candidate polymorphisms were unlikely to be the causes of SALS and MSA in this population. (C) 2014 Elsevier Inc. All rights reserved.