No evidence of association between the LINGO4 gene and essential tremor in Chinese Han patients

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• 作者：Hui Liang^a ; Wen Zheng^b ; Hongbo Xu^a ; Jing Lei^a ; ^b ; Zhi Song^b ; Xuhong Jiang^b ; Zeshuai Zeng^a ; ^c ; Hao Deng^a ; ^b ; ^{hdeng008@yahoo.com}
• 关键词：Essential tremor ; The LINGO4 gene ; Variant ; Susceptibility
• 刊名：Parkinsonism and Related Disorders
• 出版年：2012
• 期刊代码：215_13538020
• 类别：med
• 出版时间：March, 2012
• 卷：18
• 期：3
• 页码：303-305
• 文件大小：122 K

摘要

Essential tremor (ET) is shown an autosomal dominant mode of inheritance, with no disease-causing gene has been found. Genetic variations in the leucine-rich repeat and lg domain containing nogo receptor-interacting protein genes (LINGO1 and LINGO2) were reported to be associated with an increased risk of developing ET. To explore whether the LINGO4 gene (a homologous gene of the LINGO1 and the LINGO2 genes) plays a role in ET susceptibility, we performed genetic analysis of coding region of the LINGO4 gene in 100 patients with ET from Mainland China. Two nucleotide variants had been identified: (1) T聽>聽A transition (rs61746299), predicted to lead to the amino acid change Thr444Ser, and (2) C聽>聽T transition (rs1521179), located 12 bp downstream to the end of coding region. To evaluate whether these variants are related to ET susceptibility, we investigated a total of 150 Chinese Han ET patients (77 familial ET and 73 sporadic ET) and 300 sex, age and ethnicity matched normal controls. No significant differences in genotypic and allele distributions between patients and control subjects for rs61746299 and rs1521179 (p聽=聽0.531 and p聽=聽0.867 for genotypic distributions; p聽=聽1.000 and p聽=聽0.844 for allele distributions) were observed, suggesting variants in coding region of the LINGO4 gene may play litter or no role in the risk of ET susceptibility.