LINGO1 VARIANT INCREASES RISK OF FAMILIAL ESSENTIAL TREMOR

Abstract

Essential tremor (ET), a neurologic disorder characterized by postural and action tremor, is one of the most common adult-onset motor disorders.1,2 While linkage regions have been identified in Icelandic and North American families, the causative gene remains elusive.1–4 Recently, a sequence variant (rs9652490 G allele) of the LINGO1 gene was found to be associated with ET in the first genome-wide association study in European and American populations.5 Here we determined the linkage disequilibrium (LD) of single nucleotide polymorphisms (SNPs) 100 kb up/downstream of the implicated LINGO1 SNP and analyzed the SNP in a case control study in an Asian population. We included consecutive patients with ET who presented to a tertiary referral center and examined by movement disorders neurologists following a methodology as previously described.6 We followed the diagnostic criteria of classic ET based on the recommendations of the Consensus Statement of the Movement Disorders Society in 1998.7 Patients with at least one affected first-degree relative were classified as familial ET. Controls of similar gender, race, and age as ET patients and physically examined by the authors at the Health Screening Unit of the same hospital were included. Informed consent from all the study subjects was taken and the work received approval from the institutional ethics committee. The LINGO1 SNP (rs9652490) was screened …