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New Research Helps Identify Common Genetic Risk for Essential Tremor
New findings revealing 5 genome-wide significant loci associated with essential tremor (ET) risk may help to inform ET biology and identify new genes, according to an association study and meta-analysis published in JAMA Neurology.
“Essential tremor is one of the most common movement disorders, affecting 5% of the general population older than 65 years. Common variants are thought to contribute toward susceptibility to ET, but no variants have been robustly identified,” wrote Calwing Liao, BSc, Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Liao et al studied genetic data on 483,054 individuals with an aim to identify genetic factors associated with the development or risk of ET.
Through this case-control, genome-wide association study, researchers collected multicenter samples from across Europe between January 2010 and September 2019 and combined cohorts using inverse-variance meta-analysis.
A total of 7177 individuals had ET in this study, with 475,877 control individuals.
“Five independent genome-wide significant loci and were identified and were associated with approximately 18% of ET heritability. Functional analyses found significant enrichment in the cerebellar hemisphere, cerebellum, and axonogenesis pathways,” wrote Dr Calwing et al.
Common variant overlap with Parkinson disease (PD) and depression was recorded through the degree of genetic overlap. However, no genetic evidence for ET being a risk factor for PD was found.
In regions of the brain relevant to the disease, genes including BACE2, LRRN2, DHRS13, and LINC0032 were identified as significant for ET during an additional fine-mapping, transcriptome-wide association study.
“The results of this genome-wide association study suggest that a portion of ET heritability can be explained by common genetic variation and can help identify new common genetic risk factors for ET,” concluded Dr Calwing et al.
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