title: APOE ε2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population.
abstract: Polymorphism of the apolipoprotein E (APOE) gene has been defined as a modifying factor for age at onset (AO) in neurodegenerative disorders. The AO of spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3 or MJD) is inversely correlated with expanded CAG repeat lengths in the ATXN3 gene; however, AO is only partially explained by the expanded CAG repeats. We performed a case-control study to explore whether APOE genotypes play a role in AO of SCA3 or MJD from the Chinese Han population. The APOE genotypes were analyzed in an independent cohort of 155 patients with SCA3 or MJD and 191 controls both from Mainland China. Our study demonstrated that SCA3 or MJD patients experienced an earlier onset if they were carriers of APOE ε2 allele, which decreased the AO by nearly 4 years. This study may also reconfirm the effect of the APOE gene on SCA3 or MJD patients from different races and indicated that certain APOE alleles might be genetic modifiers for AO in SCA3 or MJD.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Huirong
authors.initials: H
authors.lastname: Peng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Chunrong
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Zhanfang
authors.initials: Z
authors.lastname: Sun
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Bin
authors.initials: B
authors.lastname: Jiao
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Fengzhen
authors.initials: F
authors.lastname: Huang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Hou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China; State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.affiliation: State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China; State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China; State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, P. R. China. Electronic address: jianghong73868@126.com.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D053329:Apolipoprotein E2 / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D000067699:Ataxin-3; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D017827:Machado-Joseph Disease / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
chemical_list: D053329:Apolipoprotein E2; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3
keywords: APOE gene; ATXN3 gene; Alleles; Genotypes; SCA3/MJD