Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease
Joint Authors
al-Shammari, Sulaiman A.
al-Muammar, May N.
Alhamdan, Adel A.
Masoodi, Tariq Ahmad
Source
Neurology Research International
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-03-13
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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 DDG value of >−1.0.
Four nsSNPs showed a highly deleterious tolerance index score of 0.00.
Nine nsSNPs were found to be probably damaging with position-specific independent counts (PSICs) score of ≥2.0.
Seven nsSNPs were found to be highly polymorphic with a risk score of 3-4.
The total energies and root-mean-square deviation (RMSD) values were higher for three mutant-type structures compared to the native modeled structure.
Conclusion.
We concluded that three nsSNPs, namely, rs11542041, rs11542040, and rs11542034, to be potentially functional polymorphic.
American Psychological Association (APA)
Masoodi, Tariq Ahmad& al-Shammari, Sulaiman A.& al-Muammar, May N.& Alhamdan, Adel A.. 2012. Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease. Neurology Research International،Vol. 2012, no. 2012, pp.1-8.
https://search.emarefa.net/detail/BIM-1002494
Modern Language Association (MLA)
Masoodi, Tariq Ahmad…[et al.]. Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease. Neurology Research International No. 2012 (2012), pp.1-8.
https://search.emarefa.net/detail/BIM-1002494
American Medical Association (AMA)
Masoodi, Tariq Ahmad& al-Shammari, Sulaiman A.& al-Muammar, May N.& Alhamdan, Adel A.. Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease. Neurology Research International. 2012. Vol. 2012, no. 2012, pp.1-8.
https://search.emarefa.net/detail/BIM-1002494
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1002494