Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital

Genome-wide association study identifies locus at chromosome 2q32.1 associated with syncope and collapse

Research output: Contribution to journalJournal articleResearchpeer-review


  1. Genetic associations and regulation of expression indicate an independent role for 14q32 snoRNAs in Human Cardiovascular Disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Sphingosine-1-phosphate reduces ischaemia-reperfusion injury by phosphorylating the gap junction protein Connexin43

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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. 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. 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.

Original languageEnglish
JournalCardiovascular Research
Issue number1
Pages (from-to)138-148
Number of pages11
Publication statusPublished - 2020

    Research areas

  • Genetic, Genome-wide association study, Syncope

ID: 57661425