Scientists discover nearly 700 new genetic variations that determine height

A new study has revealed that nearly 700 genetic variations determine human height, which could aid researchers fight stature-related diseases.

The study, from the international Genetic Investigation of Anthropometric Traits (GIANT) Consortium, shared and analyzed data from the genomes of 253,288 people. They checked about two million common genetic variants (those that showed up in at least 5 percent of their subjects). From this pool, they pinned down 697 (in 424 gene regions) as being related to height, the largest number to date associated with any trait or disease.

Joel Hirschhorn, MD, PhD, of Boston Children's Hospital and the Broad Institute of MIT and Harvard, leader of the GIANT Consortium and co-senior investigator on the study, said that height is almost completely determined by genetics, but their earlier studies were only able to explain about 10 percent of this genetic influence and now, by doubling the number of people in their study, they have a much more complete picture of how common genetic variants affect height-how many of them there are and how much they contribute.

Researchers said that they can now explain about 20 percent of the heritability of height, up from about 12 percent where they were before and their study also narrows down the genomic regions that contain a substantial proportion of remaining variation-to be discovered with even larger sample sizes.

The study found that many of the genes identified are likely to be important regulators of skeletal growth, but was not known to be involved until now. Some may also be responsible for unexplained syndromes of abnormal skeletal growth in children.

The study was published in the Nature Genetics.