دورية أكاديمية
Hidden risk genes with high-order intragenic epistasis in Alzheimer's disease.
| العنوان: | Hidden risk genes with high-order intragenic epistasis in Alzheimer's disease. |
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| المؤلفون: | Sun J; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China University of Chinese Academy of Sciences, Beijing, China., Song F; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China University of Chinese Academy of Sciences, Beijing, China., Wang J; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China University of Chinese Academy of Sciences, Beijing, China., Han G; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China University of Chinese Academy of Sciences, Beijing, China., Bai Z; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China University of Chinese Academy of Sciences, Beijing, China., Xie B; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China University of Chinese Academy of Sciences, Beijing, China., Feng X; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China., Jia J; Center of Alzheimer's disease, Beijing Institute for Brain Disorders, Beijing, China Department of Neurology, Xuanwu hospital, Beijing, China., Duan Y; UC Davis Genome Center and Department of Biomedical Engineering, Davis, CA, USA., Lei H; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China Center of Alzheimer's disease, Beijing Institute for Brain Disorders, Beijing, China UC Davis Genome Center and Department of Biomedical Engineering, Davis, CA, USA. |
| المصدر: | Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2014; Vol. 41 (4), pp. 1039-56. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: IOS Press Country of Publication: Netherlands NLM ID: 9814863 Publication Model: Print Cited Medium: Internet ISSN: 1875-8908 (Electronic) Linking ISSN: 13872877 NLM ISO Abbreviation: J Alzheimers Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam ; Washington : IOS Press, c1998- |
| مواضيع طبية MeSH: | Epistasis, Genetic*, Alzheimer Disease/*genetics , Genetic Predisposition to Disease/*genetics , Polymorphism, Single Nucleotide/*genetics, Aged ; Aged, 80 and over ; Apolipoproteins E/genetics ; Carrier Proteins/genetics ; Cyclic Nucleotide Phosphodiesterases, Type 1/genetics ; Female ; Genetic Association Studies ; Humans ; Male ; Membrane Proteins/genetics ; Mitochondrial Membrane Transport Proteins/genetics ; Nerve Tissue Proteins/genetics ; Protein Tyrosine Phosphatases, Non-Receptor/genetics ; Receptors, FSH/genetics ; Receptors, Mineralocorticoid/genetics ; Ryanodine Receptor Calcium Release Channel/genetics ; Ubiquitin-Protein Ligases/genetics |
| مستخلص: | Meta-analysis of data from genome-wide association studies (GWAS) of Alzheimer's disease (AD) has confirmed the high risk of APOE and identified twenty other risk genes/loci with moderate effect size. However, many more risk genes/loci remain to be discovered to account for the missing heritability. The contributions from individual singe-nucleotide polymorphisms (SNPs) have been thoroughly examined in traditional GWAS data analysis, while SNP-SNP interactions can be explored by a variety of alternative approaches. Here we applied generalized multifactor dimensionality reduction to the re-analysis of four publicly available GWAS datasets for AD. When considering 4-order intragenic SNP interactions, we observed high consistency of discovered potential risk genes among the four independent GWAS datasets. Ten potential risk genes were observed across all four datasets, including PDE1A, RYR3, TEK, SLC25A21, LOC729852, KIRREL3, PTPN5, FSHR, PARK2, and NR3C2. These potential risk genes discovered by generalized multifactor dimensionality reduction are highly relevant to AD pathogenesis based on multiple layers of evidence. The genetic contributions of these genes warrant further confirmation in other independent GWAS datasets for AD. |
| معلومات مُعتمدة: | (GM67168 United States GM NIGMS NIH HHS |
| فهرسة مساهمة: | Keywords: Alzheimer's disease; generalized multifactor dimensionality reduction; genetic risk; high-order; intragenic epistasis |
| المشرفين على المادة: | 0 (Apolipoproteins E) 0 (Carrier Proteins) 0 (KIRREL3 protein, human) 0 (Membrane Proteins) 0 (Mitochondrial Membrane Transport Proteins) 0 (NR3C2 protein, human) 0 (Nerve Tissue Proteins) 0 (Receptors, FSH) 0 (Receptors, Mineralocorticoid) 0 (Ryanodine Receptor Calcium Release Channel) EC 2.3.2.27 (Ubiquitin-Protein Ligases) EC 2.3.2.27 (parkin protein) EC 3.1.3.48 (PTPN5 protein, human) EC 3.1.3.48 (Protein Tyrosine Phosphatases, Non-Receptor) EC 3.1.4.17 (Cyclic Nucleotide Phosphodiesterases, Type 1) EC 3.1.4.17 (PDE1A protein, human) |
| تواريخ الأحداث: | Date Created: 20140426 Date Completed: 20150330 Latest Revision: 20161125 |
| رمز التحديث: | 20221213 |
| DOI: | 10.3233/JAD-140054 |
| PMID: | 24762948 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1875-8908 |
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| DOI: | 10.3233/JAD-140054 |