Dataset Information

Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.

ABSTRACT: Essential tremor (ET) is the most common tremor disorder. Evidences indicated that genetics plays an essential role in the researches of etiology. A new genome-wide association study (GWAS) from European population identified three novel loci in ET, which were rs10937625 in STK32B, rs17590046 in PPARGC1A, and rs12764057, rs10822974 and rs7903491 in CTNNA3. Due to the different genetic background in different population, we performed a case-control study to investigate these variants in a cohort of 533 subjects in Chinese population. We found a significant difference in the distributions of genotypes and alleles frequencies between ET and control groups of rs10937625 (genotype p?=?0.037, OR?=?0.69[0.48-0.98]; allele p?=?0.033, OR?=?0.82[0.69-0.99]) and rs7903491 (genotype p?=?0.030, OR?=?1.34[1.03-1.74]; allele p?=?0.029, OR?=?1.16[1.02-1.32]) after adjusted for age and gender. And no associations were detected between rs17590046 (genotype p?=?0.794; allele p?=?0.791), rs12764057 (genotype p?=?0.337; allele p?=?0.337), rs10822974 (genotype p?=?0.102; allele p?=?0.100) and ET in Chinese population individually. Our research supports that C allele of rs10937625 in STK32B is a protective factor and G allele of rs7903491 in CTNNA3 is a risk factor for ET in Chinese population.

SUBMITTER: Zhang Y

PROVIDER: S-EPMC5554251 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

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Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.

Zhang Yuan Y Zhao Yuwen Y Zhou Xiaoting X Li Kai K Yi Minhan M Guo Jifeng J Yan Xinxiang X Tang Beisha B Sun Qiying Q

Scientific reports 20170811 1

Essential tremor (ET) is the most common tremor disorder. Evidences indicated that genetics plays an essential role in the researches of etiology. A new genome-wide association study (GWAS) from European population identified three novel loci in ET, which were rs10937625 in STK32B, rs17590046 in PPARGC1A, and rs12764057, rs10822974 and rs7903491 in CTNNA3. Due to the different genetic background in different population, we performed a case-control study to investigate these variants in a cohort ...[more]

PMID: 28801652

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Project description:ImportanceEssential tremor (ET) 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.ObjectiveTo identify common genetic factors associated with risk of ET.Design, setting, and participantsCase-control genome-wide association study. Inverse-variance meta-analysis was used to combine cohorts. Multicenter samples collected from European populations were collected from January 2010 to September 2019 as part of an ongoing study. Included patients were clinically diagnosed with or reported having ET. Control individuals were not diagnosed with or reported to have ET. Of 485 250 individuals, data for 483 054 passed data quality control and were used.Main outcomes and measuresGenotypes of common variants associated with risk of ET.ResultsOf the 483 054 individuals included, there were 7177 with ET (3693 [51.46%] female; mean [SD] age, 62.66 [15.12] years), and 475 877 control individuals (253 785 [53.33%] female; mean [SD] age, 56.40 [17.6] years). 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. Genetic correlation (r), which measures the degree of genetic overlap, revealed significant common variant overlap with Parkinson disease (r, 0.28; P = 2.38 × 10-8) and depression (r, 0.12; P = 9.78 × 10-4). A separate fine-mapping of transcriptome-wide association hits identified genes such as BACE2, LRRN2, DHRS13, and LINC00323 in disease-relevant brain regions, such as the cerebellum.Conclusions and relevanceThe 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.

Dataset Information

Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.

Publications

Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.

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