Genome-wide association studies and resting heart rate

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• 作者：Tuomas O. Kilpelä ; inen ; PhD ; ^{tuomas.kilpelainen@sund.ku.dk" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Gene ; Genetic variant ; Single nucleotide polymorphism ; Genomewide association study ; Heart rate ; Cardiovascular disease
• 刊名：Journal of Electrocardiology
• 出版年：2016
• 出版时间：November-December 2016
• 年：2016
• 卷：49
• 期：6
• 页码：860-863
• 全文大小：299 K

文摘

Genome-wide association studies (GWASs) have revolutionized the search for genetic variants regulating resting heart rate. In the last 10 years, GWASs have led to the identification of at least 21 novel heart rate loci. These discoveries have provided valuable insights into the mechanisms and pathways that regulate heart rate and link heart rate to cardiovascular morbidity and mortality. GWASs capture majority of genetic variation in a population sample by utilizing high-throughput genotyping chips measuring genotypes for up to several millions of SNPs across the genome in thousands of individuals. This allows the identification of the strongest heart rate associated signals at genome-wide level. While GWASs provide robust statistical evidence of the association of a given genetic locus with heart rate, they are only the starting point for detailed follow-up studies to locate the causal variants and genes and gain further insights into the biological mechanisms underlying the observed associations.