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Genetic polymorphisms in sigma-1 receptor and apolipoprotein E interact to influence the severity of Alzheimer's disease.
Huang, Yue; Zheng, Lan; Halliday, Glenda; Dobson-Stone, Carol; Wang, Ying; Tang, Hui-Dong; Cao, Li; Deng, Yu-Lei; Wang, Gang; Zhang, Yu-Mei; Wang, Jian-Hua; Hallupp, Marianne; Kwok, John; Chen, Sheng-Di.
Afiliación
  • Huang Y; Department of Neurology & Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Curr Alzheimer Res ; 8(7): 765-70, 2011 Nov.
Article en En | MEDLINE | ID: mdl-21605063
ABSTRACT
Apolipoprotein E (APOE) ε4 allele and sigma-1 receptor (SIGMAR1) c.5C (Q2P) polymorphisms have been acknowledged as risk factors for developing Alzheimer's disease (AD). However, whether these polymorphisms influence the disease process is unclear. Therefore, two cohorts with a clinical diagnosis of AD were recruited, a postmortem confirmed Australian cohort (82 cases) from the Australian Brain Bank Network, and a Chinese cohort with detailed clinical assessments recruited through an epidemiology study in Shanghai and through the neurology department outpatients clinic of Shanghai Ruijin Hospital (330 cases). SIGMAR1 Q2P and APOE genotyping was performed on all cases. Dementia severity in the Chinese cohort was assessed using MMSE scores, and the stages of senile plaques and neurofibrillary tangles (NFT) assessed in the Australian cohort. Associations between SIGMAR1 Q2P and APOE genotypes and disease severity were assessed using SPSS. Results confirmed that APOE 4 allele associated with increased NFT stages and cognitive decline, with carriers with one APOE ε2 or ε3 allele often having better clinical outcomes compared to carriers with none or two ε2 or ε3 alleles respectively. SIGMAR1 c.5C polymorphism alone did not associate with MMSE score variability in Chinese or with pathological stages in Caucasians. However, the association studies revealed a significant genetic interaction between the APOE ε4 allele and SIGMAR1 2P carriers in both populations, i.e., in APOE non ε4 allele carriers, SIGMAR1 2P variant had increased cognitive dysfunction and more advanced stages of NFT. Our data demonstrate that SIGMAR1 and APOE interact to influence AD severity across ethnic populations.
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polimorfismo Genético / Receptores sigma / Predisposición Genética a la Enfermedad / Apolipoproteína E4 / Enfermedad de Alzheimer Tipo de estudio: Risk_factors_studies Límite: Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Asia / Oceania Idioma: En Revista: Curr Alzheimer Res Asunto de la revista: NEUROLOGIA Año: 2011 Tipo del documento: Article País de afiliación: China
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polimorfismo Genético / Receptores sigma / Predisposición Genética a la Enfermedad / Apolipoproteína E4 / Enfermedad de Alzheimer Tipo de estudio: Risk_factors_studies Límite: Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Asia / Oceania Idioma: En Revista: Curr Alzheimer Res Asunto de la revista: NEUROLOGIA Año: 2011 Tipo del documento: Article País de afiliación: China