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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome
- Source :
- Circulation. Genomic and Precision Medicine
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- Supplemental Digital Content is available in the text.<br />Background: Brugada syndrome (BrS) is an oligogenic arrhythmic disease with increased risk of sudden cardiac arrest. Several BrS or ECG traits-related single-nucleotide polymorphisms (SNPs) were identified through previous genome-wide association studies in white patients. We aimed to validate these SNPs in BrS patients in the Taiwanese population, assessing the cumulative effect of risk alleles and the BrS-polygenic risk score in predicting cardiac events. Methods: We genotyped 190 unrelated BrS patients using the TWB Array, and Taiwan Biobank was used as controls. SNPs not included in the array were imputed by IMPUTE2. Cox proportional hazards model was used to evaluate the associations between each particular SNP, the collective BrS-polygenic risk score, and clinical outcomes. Results: Of the 88 previously reported SNPs, 22 were validated in Taiwanese BrS patients (P
- Subjects :
- Male
0301 basic medicine
genotype
Disease
030204 cardiovascular system & hematology
Genome
NAV1.5 Voltage-Gated Sodium Channel
Electrocardiography
0302 clinical medicine
Genotype
Odds Ratio
genetics
Registries
risk
Brugada syndrome
Genetics
General Medicine
Middle Aged
Mutation (genetic algorithm)
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
Female
medicine.symptom
Adult
Taiwan
Single-nucleotide polymorphism
Polymorphism, Single Nucleotide
Risk Assessment
03 medical and health sciences
Asian People
medicine
Humans
Genetic Predisposition to Disease
Alleles
Proportional Hazards Models
business.industry
Genetic variants
Sudden cardiac arrest
Sequence Analysis, DNA
Original Articles
medicine.disease
030104 developmental biology
Case-Control Studies
mutation
business
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 25748300
- Volume :
- 13
- Database :
- OpenAIRE
- Journal :
- Circulation: Genomic and Precision Medicine
- Accession number :
- edsair.doi.dedup.....a771d280a7b401ff184ee02fda93bf75