Genetic testing of FUS , HTRA2, and TENM4 genes in Chinese patients with essential tremor

Autor:	Baorong Zhang, Xinzhen Yin, Ting Gao, Ting Shen, Cong-Ying Xu, Luyan Gu, Jun Tian, Jiali Pu, Yaping Yan, Guohua Zhao, Bo Zhang
Rok vydání:	2020
Předmět:	Adult Male 0301 basic medicine Nonsynonymous substitution Adolescent Essential Tremor Single-nucleotide polymorphism genetic analysis Biology Polymorphism Single Nucleotide Genetic analysis Young Adult 03 medical and health sciences symbols.namesake 0302 clinical medicine Asian People Genetic linkage Physiology (medical) medicine Humans Pharmacology (medical) Genetic Testing Allele Child Aged FUS Genetic association Genetic testing Pharmacology Sanger sequencing Genetics Membrane Glycoproteins HTRA2 medicine.diagnostic_test Original Articles High-Temperature Requirement A Serine Peptidase 2 Middle Aged Psychiatry and Mental health 030104 developmental biology TENM4 symbols RNA-Binding Protein FUS Female Original Article 030217 neurology & neurosurgery
Zdroj:	CNS Neuroscience & Therapeutics
ISSN:	1755-5949 1755-5930
Popis:	Introduction Essential tremor (ET) is one of the most prevalent movement disorders. The genetic etiology of ET has not been well defined although a significant proportion (≥50%) are familial cases. Linkage analysis and genome‐wide association studies (GWASs) have identified several risk variants. In recent years, whole‐exome sequencing of ET has revealed several specific causal variants in FUS (p.Q290X), HTRA2 (p.G399S), and TENM4 (c.4324 G>A, c.4100C>A, and c.3412G>A) genes. Objective To investigate the genetic contribution of these three genes to ET, the protein‐coding sequences of FUS, HTRA2, and TENM4 were analyzed in a total of 238 ET patients and 272 controls from eastern China using direct Sanger sequencing. Results We identified two synonymous coding single nucleotide polymorphisms (SNPs), rs741810 and rs1052352 in FUS, and three previously reported synonymous SNPs, rs11237621, rs689369, and rs2277277 in TENM4. No nonsynonymous exonic variants were identified in these subjects. We found that the frequency of the rs1052352C allele was significantly higher (P = .001) in the ET group than in the control group. Conclusion Overall, our findings suggest that rs1052352 of FUS might contribute to ET risk in Chinese population.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dd848338afc2547870f01dbe6d1d575 https://doi.org/10.1111/cns.13305 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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