Biological pathways affect human height

29 September 2010

Hundreds of genetic variants in at least 180 loci have been identified as having an influence on adult human height, thanks to a large genome-wide association (GWA) study. The findings, reported in this week's Nature, provide biological insights into human growth and may also shed light on the architecture of complex genetic traits more generally.

Many human traits, including adult height, have a polygenic pattern of inheritance where the phenotype is influenced by the genetic variants at multiple loci. Joel Hirschhorn and colleagues report a GWA study of over 180,000 individuals. They identify over 100 new loci, bringing the total to 180, which in total account for about 10% of variation in human height. The loci were not clustered randomly but were enriched for genes involved in growth-related processes, which influence adult height.

The authors point out that their findings demonstrate that GWA studies are able to identify large numbers of loci that implicate potential causal genes. However, different approaches, including those targeting less common variants, will be needed to understand more fully the genetic component of complex human traits.

Croatian and ORCADES studies paper authors

Jim Wilson, Alan Wright, Caroline Hayward, Veronique Vitart, Igor Rudan and Harry Campbell

<< BACK

Electrocardiography (ECG, or EKG [from the German Elektrokardiogramm]) is a transthoracic interpretation of the electrical activity of the heart over time captured and externally recorded by skin electrodes.

Scots team help identify genes linked to heartbeat

15 November 2010

An international study involving researchers at the Medical Research Council (MRC) Human Genetics Unit has found several areas of the human genome responsible for controlling the rythmn of heartbeats. By analysing the genetic code of nearly 50,000 people, researchers are now one step closer to understanding more about those with irregular heartbeat and who are at increased risk of heart problems.

The study, published today in Nature Genetics showed that there were 22 areas of the human genome associated with influencing the process of how the heart beats, known as cardiac ventricular conduction. The researchers were not only able to discover new genes associated with the heart, but were also able to pinpoint the precise role that some particular genes play in order to control the electrical pulses that regulate the heartbeat.

Every participant had an electrocardiogram (ECG) to measure their heart's electrical activity.. By analysing their genetic code, researchers were able to identify genes responsible for variations in cardiac ventricular conduction.

The lead author on this international study is Dr Nona Sotoodehnia at the University of Washington. The data for the cardiac conduction genetics study came from a consortium of 15 European and American studies. The research involved more than 100 scientists from the United Kingdom, Europe and the United States.

Dr Caroline Hayward at the MRC Human Genetics Unit in Edinburgh who was involved in the analysis of the study says:

"By understanding more about the biological processes that control every heart beat, we can begin to have real insight into causes and potential treatments for people at increased risk of sudden death, heart failure and cardiac mortality."

The research was funded by the National Institutes of Health (NIH), the Medical Research Council (MRC), the Chief Scientist Office and the Royal Society. UK universities taking part in the research include the University of Edinburgh, the University of Leicester and the University of Glasgow.