| Title: | Genome-wide association study identifies locus at chromosome 2q32.1 associated with syncope and collapse |
| Journal: | Cardiovascular Research |
| Published: | 3 May 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/31049583/ |
| DOI: | https://doi.org/10.1093/cvr/cvz106 |
| URL: | https://academic.oup.com/cardiovascres/article-pdf/116/1/138/31555856/cvz106.pdf |
Publication 13770
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Abstract
AIMS: Syncope is a common condition associated with frequent hospitalization or visits to the emergency department. Family aggregation and twin studies have shown that syncope has a heritable component. We investigated whether common genetic variants predispose to syncope and collapse.</p>
METHODS AND RESULTS: We used genome-wide association data on syncope on 408 961 individuals with European ancestry from the UK Biobank study. In a replication study, we used the Integrative Psychiatric Research Consortium (iPSYCH) cohort (n = 86 189), to investigate the risk of incident syncope stratified by genotype carrier status. We report on a genome-wide significant locus located on chromosome 2q32.1 [odds ratio = 1.13, 95% confidence interval (CI) 1.10-1.17, P = 5.8 × 10-15], with lead single nucleotide polymorphism rs12465214 in proximity to the gene zinc finger protein 804a (ZNF804A). This association was also shown in the iPSYCH cohort, where homozygous carriers of the C allele conferred an increased hazard ratio (1.30, 95% CI 1.15-1.46, P = 1.68 × 10-5) of incident syncope. Quantitative polymerase chain reaction analysis showed ZNF804A to be expressed most abundantly in brain tissue.</p>
CONCLUSION: We identified a genome-wide significant locus (rs12465214) associated with syncope and collapse. The association was replicated in an independent cohort. This is the first genome-wide association study to associate a locus with syncope and collapse.</p>
26 Keywords
- Adolescent
- Adult
- Aged
- Case-Control Studies
- Cell Line
- Chromosomes, Human, Pair 2
- Databases, Factual
- Denmark
- Female
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Heredity
- Humans
- Incidence
- Infant, Newborn
- Kruppel-Like Transcription Factors
- Male
- Middle Aged
- Phenotype
- Polymorphism, Single Nucleotide
- Quantitative Trait Loci
- Risk Assessment
- Risk Factors
- Syncope
- United Kingdom
- Young Adult
16 Authors
- Katra Hadji-Turdeghal
- Laura Andreasen
- Christian M Hagen
- Gustav Ahlberg
- Jonas Ghouse
- Marie Bækvad-Hansen
- Jonas Bybjerg-Grauholm
- David M Hougaard
- Paula Hedley
- Stig Haunsø
- Jesper H Svendsen
- Jørgen K Kanters
- Thomas A Jepps
- Morten W Skov
- Michael Christiansen
- Morten S Olesen
1 Application
| Application ID | Title |
|---|---|
| 24460 | Genetic causes of complex human traits: emphasis on psychiatric, ocular, dermatological, and cardiovascular diseases. |
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