Largest genome study provides insight into the genetics of human height

Researchers have discovered more than 12,000 genetic variants associated with human height in the largest known genome-wide study.

The study, an international collaboration by the Genetic Investigation of ANthropometric Traits (GIANT) consortium including the University of Exeter, analysed nearly 5.4 million individuals of diverse ancestries in the largest known genome-wide association study (GWAS) reported to date.

75.8 per cent (%) of the analysed sample were predominantly of European ancestry, 8.8 per cent (%) were predominantly East Asian, 8.5 per cent (%) Hispanic ethnicity, 5.5 per cent (%) African ancestry and 1.4 per cent (%) predominantly South Asian ancestry.

Adult Height is heritable and easily measured. Previous studies have shown that many genetic variants are associated with height, including genes responsible for skeletal disorders – especially in populations with European ancestry. Thus, height can be seen as a viable metric for assessing the role of genetic variation in the architecture of observable human traits.

The GIANT consortium identified 12,111 independent genetic variants significantly associated with height. The variants were found to be clustered close to genes already implicated with growth disorders. The research suggests that the genetic variants identified account for 40 per cent (%) of variation in height in populations with European ancestry, but only 10 – 20 per cent (%) in other ancestries.

Dr Andrew R Wood, co-author and senior lecturer in Statistical Genetics & Health Data Science at the University of Exeter, said: “We’ve been studying the genetics of variation in adult height for over a decade, identifying increasing numbers of common genetic factors. However, as with other common diseases and traits, theoretical models indicated we were not done in identifying the genetic factors associated with height.

“Thanks to the unprecedented amount of data we have been able to collect and analyse in over 5 million people, we have now been able to map regions of the genome harbouring common genetic variation that explain most of the variability in height expected through the effects of common genetic variants we have analysed.

“Most of the studies included in our analysis are of European ancestry. However, our results highlight the importance of including studies of non-European ancestry as genetic predictors for height in individuals of non-European ancestry are presently not as powerful, consistent with findings from other genetic studies of human traits and diseases.”

The paper is entitled ‘A Saturated Map of Common Genetic Variants Associated with Human Height’ and is published in Nature.