Insights into the genetics of human height

ORCADES and Viking Health Study – Shetland volunteer data used in largest ever genetic study helps to identify 12,000 genetic variants associated with height.


Physician measuring a man's height

Adult height is heritable and easily measurable. Previous research identified a large number of genetic variants associated with height, including genes associated with skeletal disorders, primarily in populations with European ancestry.

Height provides a model trait for assessing the role of genetic variation in the architecture of observable human traits. Many observable or measurable traits are inherited, such as height, eye colour and blood type, but also blood pressure, cholesterol levels, blood sugar, cognitive abilities and other risk factors for disease. In each case, the measured trait is determined by both their genomic makeup and environmental factors. Height is studied as a model for other traits as it is very widely measured and so what geneticists can learn about height paves the way for what they might be able to learn about disease-related traits, as sample sizes increase.

During the largest genome-wide association study (GWAS) reported to date, researchers performed genetic analyses of an incredible 5.4 million research volunteers across hundreds of cohorts and from a range of ancestries: 75.8% of the sample had predominantly European ancestry, 8.8% predominantly East Asian ancestry, 8.5% predominantly Hispanic ethnicity, 5.5% predominantly African ancestry and 1.4% predominantly South Asian ancestry. They identified 12,111 independent genetic variants that are significantly associated with height.

Lead author, Loïc Yengo and colleagues from the GIANT consortium, suggest these variations account for nearly all common variants associated with height, particularly in populations of European ancestry. When they looked at the position of these variants across the genome, they found variants were more likely to be clustered close to genes already known to be associated with growth disorders. The authors indicate that the genetic variants associated with height identified in this study account for 40% of the variation in height in populations with European ancestry, but only around 10–20% in other ancestries.   

The findings demonstrate that, with sufficiently large sample sizes, researchers can produce a saturated map of regions in the genome that contribute to variation: the vast majority of common height-associated genetic variants have been found. They conclude that further research is needed in groups of non-European ancestries to achieve the same level of saturation as seen in Europeans.  

This paper was published in Nature. To read more visit:

A saturated map of common genetic variants associated with human height