期刊
PARKINSONISM & RELATED DISORDERS
卷 18, 期 3, 页码 303-305出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2011.10.017
关键词
Essential tremor; The LINGO4 gene; Variant; Susceptibility
资金
- New Century Excellent Talents in University of Ministry of Education of P.R. China [NCET-080563]
- Fund of Hunan Province for Distinguished Young Scholar, China [09JJ1005]
- National Natural Science Foundation of China [30871351]
- Program for Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry
- Fundamental Research Funds for the Central Universities [2011JQ014]
- Central South University, China [YC10106]
- Graduate Degree Thesis Innovation Foundation of Central South University, China [2011ssxt194]
- Third Xiangya Hospital, Central South University
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 Ig 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 LINGO! 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 > A transition (rs61746299), predicted to lead to the amino acid change Thr444Ser, and (2) C > 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 = 0.531 and p = 0.867 for genotypic distributions; p = 1.000 and p = 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. (C) 2011 Elsevier Ltd. All rights reserved.
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