Annotation of susceptibility SNPs associated with atrial fibrillation.

Abstract:

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.

journal_name

Aging (Albany NY)

journal_title

Aging

authors

Xu C,Zhang R,Xia Y,Xiong L,Yang W,Wang P

doi

10.18632/aging.103615

subject

Has Abstract

pub_date

2020-09-09 00:00:00

pages

16981-16998

issue

17

issn

1945-4589

pii

103615

journal_volume

12

pub_type

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