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Largest GWAS Maps Variation in Human Height

, by Jennifer Loukissas, M.P.P.

A cartoon DNA helix with blue backbone and multicolored bases lies on a white surface covered in the genetic code: Ts, As, Gs, and Cs.
Credit: Darryl Leja, NHGRI

An international consortium known as GIANT has published results from the largest-known genome-wide association study (GWAS)—nearly 5.4 million people—and identified more than 12,000 genetic variants associated with variation in human height. These variants account for most common variation associated with height, particularly in populations of European ancestry, and many variants are clustered close to genes previously associated with growth disorders. Their findings were published in Nature on October 12, 2022.

Sonja Berndt, Pharm.D., Ph.D., senior investigator, and Dr. Josh Arias, in the Occupational and Environmental Epidemiology Branch, played a lead role in the GIANT consortium.

While the findings provide proof-of-principle that large-scale genetic analysis can describe the genetic architecture of observable traits, the authors note that this work is incomplete as 76% of the study population was of European ancestry. Important gaps remain in the study of populations with different ancestries. Their findings account for 40% of the variation in height in populations with European ancestry, but only around 10–20% in other ancestries.   


Yengo, L, et al. A saturated map of common genetic variants associated with human heightNature. 2022. DOI: 10.1038/s41586-022-05275-y

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