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- W1488244626 abstract "OBJECTIVE: To perform a genome-wide linkage scan in 52 ET families from the Family Study of Essential Tremor (FASET) to identify susceptibility loci for ET. BACKGROUND: Family and twin studies provide evidence for high heritability and a contribution of genetic factors to ET disease etiology. Previous linkage mapping efforts have identified 3 loci for ET (ETM1, 3q13; ETM2, 2p24.1 and ETM3, 6p23), however causal genes and mutations have not been identified. DESIGN/METHODS: ET cases (probands) and their reportedly affected first-and second-degree relatives were enrolled in FASET, a genetic family study of ET at Columbia University Medical Center. We enrolled 242 individuals (61 probands and 181 relatives). For the current analyses, we excluded enrollees who were diagnosed with PD, dystonia or psychogenic movements. The final sample included 207 individuals (52 probands and 155 relatives), including 160 ET, 28 borderline ET, and 19 normal. We genotyped all available affected individuals within each family. SNP genotyping was conducted using Illumina Omni Express Array. Extensive QC steps of SNP data was performed prior to linkage analysis. We also excluded SNPs to reduce LD (r2>0.20 and r2>0.10) in order to minimize false-positive linkage findings. Multipoint nonparametric linkage analyses were performed using MERLIN version 1.1.2. RESULTS: A total of 52 families and 207 individuals were successfully genotyped, including on average 3 individuals per family (range 2-5, 2 mean affected). An initial genome wide linkage scan identified specific chromosomal regions with HLOD scores 蠅3. CONCLUSIONS: Initial results of this genome-wide linkage scan provide evidence for novel susceptibility loci for ET among the families analyzed. Of note, the regions identified in this study do not overlap with previously reported loci for ET (ETM1, ETM2 and ETM3). Additional analyses are ongoing and the results will be presented. Study Supported by: National Institutes of Health NS073872 and The Parkinson9s Disease Foundation Disclosure: Dr. Clark has nothing to disclose. Dr. Hernandez has nothing to disclose. Dr. Ottman has nothing to disclose. Dr. Ionita-Laza has nothing to disclose. Dr. Louis has nothing to disclose." @default.
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- W1488244626 date "2014-04-08" @default.
- W1488244626 modified "2023-10-01" @default.
- W1488244626 title "Genome-Wide Linkage Scan for Essential Tremor: The FASET Study (P4.070)" @default.
- W1488244626 hasPublicationYear "2014" @default.
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