Abstract
Essential tremor (ET) is a complex genetic disorder for which no causative gene has been found. Recently, a genome-wide association study reported that two variants in the LINGO1 locus were associated to this disease. The aim of the present study was to test if this specific association could be replicated using a French-Canadian cohort of 259 ET patients and 479 ethnically matched controls. Our genotyping results lead us to conclude that no association exists between the key variant rs9652490 and ET (Pcorr = 1.00).
Highlights
Essential tremor (ET), with an estimated prevalence around 5% in persons aged over 65 years, is the most common movement disorder of adults [1]
Minor allele frequencies (MAF) from our control group were consistent with the MAF reported in the genome-wide association study (GWAS) report [3]
Our association study using a French-Canadian cohort of ET cases does not support an association between rs9652490 or rs11856808 and the disease
Summary
Essential tremor (ET), with an estimated prevalence around 5% in persons aged over 65 years, is the most common movement disorder of adults [1]. Segregation analysis of ET in families strongly supports the contribution of genetic factors [1], genomewide linkage studies have failed to identify ET-susceptibility genes. This lack of success may be attributable to a complex mode of inheritance involving environmental factors and multiple lowpenetrance susceptibility alleles [2]. A genome-wide association study (GWAS) was conducted by Stefansson et al using 452 ET cases and 14,394 controls from the Icelandic population [3]. The aim of the present study was to attempt to replicate these findings in another population
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