screening and evaluation of deleterious snps in apoe gene of alzheimer’s disease筛选和评价apoe基因的有害的snps阿尔茨海默氏症.pdfVIP

Hindawi Publishing Corporation Neurology Research International Volume 2012, Article ID 480609, 8 pages doi:10.1155/2012/480609 Research Article Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease Tariq Ahmad Masoodi, Sulaiman A. Al Shammari, May N. Al-Muammar, and Adel A. Alhamdan Health Care Development for Elderly Research Chair, Community Health Sciences Department, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Saudi Arabia Correspondence should be addressed to Tariq Ahmad Masoodi, tahamasoodi@ Received 29 October 2011; Accepted 9 December 2011 Academic Editor: Changiz Geula Copyright © 2012 Tariq Ahmad Masoodi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Introduction. Apolipoprotein E (APOE) is an important risk factor for Alzheimer’s disease (AD) and is present in 30–50% of patients who develop late-onset AD. Several single-nucleotide polymorphisms (SNPs) are present in APOE gene which act as the biomarkers for exploring the genetic basis of this disease. The objective of this study is to identify deleterious nsSNPs associated with APOE gene. Methods. The SNPs were retrieved from dbSNP. Using I-Mutant, protein stability change was calculated. The potentially functional nonsynonymous (ns) SNPs and their effect on protein was predicted by PolyPhen and SIFT, respectively. FASTSNP was used for functional analysis and estimation of risk score. The functional impact on the APOE protein was evaluated by using Swiss PDB viewer and NOMAD-Ref server. Results. Six nsSNPs were found to be least stable by I-Mutant 2.0 with