Variation at APOE and STH loci and Alzheimer's disease
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BioMed Central
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Variation at APOE and STH loci and Alzheimer's disease Lingjun Zuo1,2, Christopher H van Dyck3, Xingguang Luo1,2, Henry R Kranzler4, Bao-zhu Yang1,2 and Joel Gelernter*1,2 Address: 1Division of Human Genetics, Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA, 2VA Connecticut Healthcare System, West Haven Campus, CT, USA, 3Alzheimer's Disease Research Unit and Cognitive Disorders Clinic, Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA and 4Department of Psychiatry, University of Connecticut School of Medicine, Farmington, CT, USA Email: Lingjun Zuo - [email protected]; Christopher H van Dyck - [email protected]; Xingguang Luo - [email protected]; Henry R Kranzler - [email protected]; Bao-zhu Yang - [email protected]; Joel Gelernter* - [email protected] * Corresponding author
Published: 07 April 2006 Behavioral and Brain Functions 2006, 2:13
doi:10.1186/1744-9081-2-13
Received: 15 March 2006 Accepted: 07 April 2006
This article is available from: http://www.behavioralandbrainfunctions.com/content/2/1/13 © 2006 Zuo et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract Background: The apolipoprotein E (APOE) and tau proteins play important roles in the pathological development of Alzheimer's disease (AD). Many studies have shown an association between the APOE gene and AD. Association between AD and the newly discovered saitohin (STH) gene, nested within the intron of the tau gene, has been reported. The present study aimed to elucidate the association between APOE and AD, and between STH and AD in our sample. Methods: The functional polymorphisms, rs429358 and rs7412, in the APOE gene (which together define the ε2, ε3, and ε4 alleles), and the Q7R SNP in the STH gene, were genotyped in 369 patients with AD and 289 healthy European-Americans. The associations between these two genes and AD were analyzed in a case-control design. Results: Consistent with previously reported results, the frequencies of the APOE ε4 allele, ε4/ε4 genotype and ε3/ε4 genotype were significantly higher in AD cases than controls; the ε4/ε4 genotype frequency was significantly higher in early-onset AD (EOAD) than late-onset AD (LOAD); the frequencies of the ε2 allele, ε3 allele, ε3/ε3 genotype and ε2/ε3 genotype were significantly lower in AD cases than controls. Positive likelihood ratios (LRs+) of APOE alleles and genotypes increased in a linear trend with the number of ε4 alleles and decreased in a linear trend with the number of ε2 or ε3 alleles. There was no significant difference in the STH allele and genotype frequency distributions between AD cases and controls. Conclusion: This study confirmed that the ε4 allele is a dose-response
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