The 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 ATX...

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Bibliographic Details
Published in:Neurobiology of aging 2014-09, Vol.35 (9), p.2179.e15-2179.e18
Main Authors: Peng, Huirong, Wang, Chunrong, Chen, Zhao, Sun, Zhanfang, Jiao, Bin, Li, Kai, Huang, Fengzhen, Hou, Xuan, Wang, Junling, Shen, Lu, Xia, Kun, Tang, Beisha, Jiang, Hong
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Aged
Alleles
APOE gene
Apolipoprotein E2 - genetics
Asian Continental Ancestry Group - genetics
Ataxin-3
ATXN3 gene
Case-Control Studies
China - epidemiology
Cohort Studies
Female
Gene Frequency
Genetic Association Studies
Genotype
Genotypes
Heterozygote
Humans
Internal Medicine
Machado-Joseph Disease - epidemiology
Machado-Joseph Disease - genetics
Male
Middle Aged
Nerve Tissue Proteins - genetics
Neurology
Nuclear Proteins - genetics
Repressor Proteins - genetics
SCA3/MJD
Trinucleotide Repeat Expansion
Young Adult
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Summary: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.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2014.03.020