title: TUBA4A may not be a significant genetic factor in Chinese ALS patients.
abstract: TUBA4A gene has recently been identified as a potential candidate amyotrophic lateral sclerosis(ALS)-associated gene using exome-wide rare variant burden analysis. The identification of novel TUBA4A variants in Italian ALS patients further support the role of TUBA4A in ALS. We sequenced the coding region of exon 4 in the TUBA4A gene in a cohort consisting of 80 familial ALS probands, 500 sporadic ALS patients and 500 healthy control individuals. No TUBA4A causative variants were identified in the ALS patients. In conclusion, our current results did not find an association between TUBA4A and ALS in Chinese patients, and further studies will be required.
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Jiao
authors.initials: J
authors.lastname: Li
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Ji
authors.initials: J
authors.lastname: He
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Lu
authors.initials: L
authors.lastname: Tang
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Lu
authors.initials: L
authors.lastname: Chen
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Lianping
authors.initials: L
authors.lastname: Xu
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ma
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Nan
authors.initials: N
authors.lastname: Zhang
authors.affiliation: a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Fan
mesh_terms: D017677:Age Distribution; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D002681:China / Q000453:epidemiology; D015897:Comorbidity; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D015203:Reproducibility of Results; D018570:Risk Assessment / Q000379:methods; D012680:Sensitivity and Specificity; D017678:Sex Distribution; D014404:Tubulin / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C408046:TUBA8 protein, human; D014404:Tubulin
keywords: Amyotrophic lateral sclerosis; Chinese population; TUBA4A gene; association study; genetic study