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    Home > Active Ingredient News > Study of Nervous System > JAMA Neurology: 5 genome-wide significant loci associated with essential tremor risk

    JAMA Neurology: 5 genome-wide significant loci associated with essential tremor risk

    • Last Update: 2022-01-22
    • Source: Internet
    • Author: User
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    Essential tremor (ET) is one of the most common movement disorders, affecting 5% of the general population over the age of 65
    .
    Common variants are thought to contribute to ET susceptibility, but no reliable variants have been identified

    .

    Essential tremor (ET) is a complex neurological disorder that affects 1% of the general population and up to 5% of people over the age of 65
    .
    ET is clinically characterized by bilateral, highly symmetrical motor or postural tremors, which can greatly reduce
    quality of life and impair daily functioning
    .
    Previous studies have suggested that the cerebellum may be an important region for ET

    .
    Specifically, Purkinje cell abnormalities were observed in postmortem brain tissue of ET patients

    .
    Several transcriptomic studies and imaging studies have also highlighted the importance of the cerebellum in ET

    .

    Quality of Life

    Calwing Liao et al.
    presented a genome-wide meta-analysis using a cohort of 7177 ET individuals and 475 877 control individuals to identify the first genome-wide significant loci for ET

    .
    In addition, novel loci were identified involving tissue-related genes and significant genetic overlap between Parkinson's disease (PD) and ET was found

    .
    This report supports the heritability of ET and involves novel disease-associated loci and genes

    .

    Calwing Liao et al.
    presented a genome-wide meta-analysis using a cohort of 7177 ET individuals and 475 877 control individuals to identify the first genome-wide significant loci for ET

    .
    In addition, novel loci were identified involving tissue-related genes, and significant genetic overlap was found between Parkinson's disease (PD) and ET

    .
    This report supports the genetic properties of ET and involves novel disease-associated loci and genes.
    Calwing Liao et al.
    propose a genome-wide meta-analysis using a cohort of 7177 ET individuals and 475 877 control individuals to identify the first Genome-wide important sites for ET

    .
    In addition, novel loci were identified involving tissue-related genes, and significant genetic overlap was found between Parkinson's disease (PD) and ET

    .
    This report supports the heritability of ET and involves novel disease-associated loci and genes

    The study used inverse variance meta-analysis to pool cohorts
    .
    As part of an ongoing study, a multicentre sample from the European population was collected from January 2010 to September 2019

    .
    Included patients were those who were clinically
    diagnosed or reported to have ET
    .
    Patients in the control group were those who had not been diagnosed or reported having ET

    .
    Data on 4830 054 patients out of 485 250 patients passed data quality control

    .
    Genotyping of common variants associated with ET risk

    .

    diagnosis

    Finally, 483054 individuals were included, of which 7177 had ET (3693 [51.
    46%] women; mean age 62.
    66±15.
    12 years) and 475 877 control individuals (253 785 [53.
    33%] women; mean age 56.
    40 ±17.
    6 years)

    .

    Five independent genome-wide significant loci were identified and associated with approximately 18% of ET heritability
    .

    Major single nucleotide variants (SNVs) at genome-wide significant loci in 7177 essential tremor patients and 475 877 control patients

    Major single nucleotide variants (SNVs) at genome-wide significant loci in 7177 essential tremor patients and 475 877 control patients

    Functional analysis found significant enrichment in the cerebellar hemisphere, cerebellum, and axogenesis pathways
    .

    Genetic correlation (r), a measure of the degree of genetic overlap, revealed significant covariant overlap between Parkinson's disease (r, 0.
    28; P = 2.
    38 10 8 ) and depression (r, 0.
    12; P = 9.
    78 10 4 )

    .

    Parkinson's disease (r, 0.
    28; P = 2.
    38 10 8 ) and depression (r, 0.
    12; P = 9.
    78 10 4 ) had significant covariate overlap

    .

    Mirror Manhattan plots of transcriptome-wide associations in essential tremor

    Mirror Manhattan plots of transcriptome-wide associations in essential tremor

    Another fine-mapping of transcriptome-wide associations identified genes such as BACE2, LRRN2, DHRS13 and LINC00323 that have been identified in disease-associated brain regions such as the cerebellum
    .

    This study identified five ET genome-wide significant loci, suggesting that approximately 18% of ET heritability may be explained by common variation
    .
    The meta-analysis involved genes such as BACE2 and reinforced the importance of the cerebellum in the etiology of ET

    .
    The results also showed that approximately 30% of genetic variants overlap with PD, and there is no genetic evidence that ET is a risk factor for PD

    .

    This study identified five ET genome-wide significant loci, suggesting that approximately 18% of ET heritability may be explained by common variation
    .
    The meta-analysis involved genes such as BACE2 and reinforced the importance of the cerebellum in the etiology of ET

    .
    The results also showed that about 30% of the genetic variants overlapped with PD, and there was no genetic evidence that ET was a risk factor for PD.
    The study found five genome-wide significant loci for ET, suggesting that about 18% of ET heritability may be caused by Common Variation Explanation
    .
    The meta-analysis involved genes such as BACE2 and reinforced the importance of the cerebellum in the etiology of ET

    .
    The results also showed that approximately 30% of genetic variants overlap with PD, and there is no genetic evidence that ET is a risk factor for PD

    original source

    Liao C, Castonguay C, Heilbron K, et al.
    Association of Essential Tremor With Novel Risk Loci
    : A Genome-Wide Association Study and Meta-analysis.
     
    JAMA Neurol.
     Published online January 04, 2022.
    doi:10.
    1001/jamaneurol.
    2021.
    4781

    Liao C, Castonguay C, Heilbron K, et al.
    Association of Essential Tremor With Novel Risk Loci
    : A Genome-Wide Association Study and Meta-analysis.
     
    JAMA Neurol.
     Published online January 04, 2022.
    doi:10.
    1001/jamaneurol.
    2021.
    4781
    Liao C, Castonguay C, Heilbron K, et al.
    Association of Essential Tremor With Novel Risk Loci
    JAMA Neurol.
    JAMA

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