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Annotation of susceptibility SNPs associated with atrial fibrillation
Objective: Genome-wide association studies (GWAS) and the candidate gene based association studies have identified a panel of variants associated with atrial fibrillation (AF), however, most of the identified single nucleotide polymorphisms (SNPs) were found located within intergenic or intronic gen...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521544/ https://www.ncbi.nlm.nih.gov/pubmed/32902410 http://dx.doi.org/10.18632/aging.103615 |
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author | Xu, Chengqi Zhang, Rongfeng Xia, Yunlong Xiong, Liang Yang, Wei Wang, Pengyun |
author_facet | Xu, Chengqi Zhang, Rongfeng Xia, Yunlong Xiong, Liang Yang, Wei Wang, Pengyun |
author_sort | Xu, Chengqi |
collection | PubMed |
description | Objective: Genome-wide association studies (GWAS) and the candidate gene based association studies have identified a panel of variants associated with atrial fibrillation (AF), however, most of the identified single nucleotide polymorphisms (SNPs) were found located within intergenic or intronic genomic regions, and whether the positive SNPs have a real biological function is unknown, and the real disease causing gene need to be studied. Results: The current results of the genetic studies including common variants identified by GWAS (338 index SNPs) and candidate gene based association studies (40 SNPs) were summarized. Conclusion: Our study suggests the relationship between genetic variants and possible targeted genes, and provides insight into potential genetic pathways underlying AF incidence and development. The results may provide an encyclopedia of AF susceptibility SNPs and shed light on the functional mechanisms of AF variants identified through genetic studies. Methods: We summarized AF susceptibility SNPs identified by GWAS and candidate gene based association studies, and give a comprehensive functional annotation of all these AF susceptibility loci. by genomic annotation, microRNA binding prediction, promoter activity analysis, enhancer activity analysis, transcription factors binding activity prediction, expression quantitative trait loci (eQTL) analysis, long-range transcriptional regulatory function analysis, gene ontology and pathway enrichment analysis. |
format | Online Article Text |
id | pubmed-7521544 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Impact Journals |
record_format | MEDLINE/PubMed |
spelling | pubmed-75215442020-10-02 Annotation of susceptibility SNPs associated with atrial fibrillation Xu, Chengqi Zhang, Rongfeng Xia, Yunlong Xiong, Liang Yang, Wei Wang, Pengyun Aging (Albany NY) Research Paper Objective: Genome-wide association studies (GWAS) and the candidate gene based association studies have identified a panel of variants associated with atrial fibrillation (AF), however, most of the identified single nucleotide polymorphisms (SNPs) were found located within intergenic or intronic genomic regions, and whether the positive SNPs have a real biological function is unknown, and the real disease causing gene need to be studied. Results: The current results of the genetic studies including common variants identified by GWAS (338 index SNPs) and candidate gene based association studies (40 SNPs) were summarized. Conclusion: Our study suggests the relationship between genetic variants and possible targeted genes, and provides insight into potential genetic pathways underlying AF incidence and development. The results may provide an encyclopedia of AF susceptibility SNPs and shed light on the functional mechanisms of AF variants identified through genetic studies. Methods: We summarized AF susceptibility SNPs identified by GWAS and candidate gene based association studies, and give a comprehensive functional annotation of all these AF susceptibility loci. by genomic annotation, microRNA binding prediction, promoter activity analysis, enhancer activity analysis, transcription factors binding activity prediction, expression quantitative trait loci (eQTL) analysis, long-range transcriptional regulatory function analysis, gene ontology and pathway enrichment analysis. Impact Journals 2020-09-09 /pmc/articles/PMC7521544/ /pubmed/32902410 http://dx.doi.org/10.18632/aging.103615 Text en Copyright: © 2020 Xu et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Paper Xu, Chengqi Zhang, Rongfeng Xia, Yunlong Xiong, Liang Yang, Wei Wang, Pengyun Annotation of susceptibility SNPs associated with atrial fibrillation |
title | Annotation of susceptibility SNPs associated with atrial fibrillation |
title_full | Annotation of susceptibility SNPs associated with atrial fibrillation |
title_fullStr | Annotation of susceptibility SNPs associated with atrial fibrillation |
title_full_unstemmed | Annotation of susceptibility SNPs associated with atrial fibrillation |
title_short | Annotation of susceptibility SNPs associated with atrial fibrillation |
title_sort | annotation of susceptibility snps associated with atrial fibrillation |
topic | Research Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521544/ https://www.ncbi.nlm.nih.gov/pubmed/32902410 http://dx.doi.org/10.18632/aging.103615 |
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