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Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease
المؤلفون المشاركون
al-Shammari, Sulaiman A.
al-Muammar, May N.
Alhamdan, Adel A.
Masoodi, Tariq Ahmad
المصدر
Neurology Research International
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-03-13
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1002494
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
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