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在中国人群中对原发性震颤或散发性帕金森病患者 LINGO1 基因的两个 SNP 进行筛查。

Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population.

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.

出版信息

Neurosci Lett. 2010 Sep 6;481(2):69-72. doi: 10.1016/j.neulet.2010.06.041. Epub 2010 Jun 19.

DOI:10.1016/j.neulet.2010.06.041
PMID:20600614
Abstract

Two markers rs9652490 and rs11856808 both located in intron 3 of the LINGO1 gene have been nominated recently to be associated with essential tremor (ET). Although ET and Parkinson's disease (PD) are considered as different entities, they have many overlapping clinical and pathological features. We aimed to evaluate the role of rs9652490 and rs11856808 in the development of ET and PD. To this point, we sequenced the region involving the two markers in 109 ET cases, 425 sporadic Parkinson's disease (SPD) cases and 430 controls in Chinese population. After stratification by age, the rs9652490G allele suggested protective role in the early onset PD (EOPD, age at onset < or =50 years) group compared with age matched controls (OR=0.56, 95% CI: 0.35-0.90, p=0.015). No other significant association was found. We concluded that the two markers rs9652490 and rs11856808 were not strongly related to the development of ET or late onset SPD, but the rs9652490G allele might be a protective factor for EOPD in Chinese population.

摘要

两个标记物 rs9652490 和 rs11856808 均位于 LINGO1 基因的内含子 3 中,最近被提名与特发性震颤(ET)相关。尽管 ET 和帕金森病(PD)被认为是不同的实体,但它们具有许多重叠的临床和病理特征。我们旨在评估 rs9652490 和 rs11856808 在 ET 和 PD 发展中的作用。为此,我们在中国人群中对 109 例 ET 病例、425 例散发性帕金森病(SPD)病例和 430 例对照进行了涉及两个标记物的区域测序。分层按年龄后,与年龄匹配的对照组相比,rs9652490G 等位基因在发病年龄<或=50 岁的早发性 PD(EOPD)组中提示保护作用(OR=0.56,95%CI:0.35-0.90,p=0.015)。未发现其他显著关联。我们得出结论,两个标记物 rs9652490 和 rs11856808 与 ET 或晚发性 SPD 的发展没有密切关系,但 rs9652490G 等位基因可能是中国人群 EOPD 的保护因素。

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