New genes associated with adult height are reported in a study of more than 253,000 people published online this week in Nature Genetics. The findings highlight the importance of large sample sizes in studies of complex human traits.
Adult human height is a classic example of a complex trait determined by the combination of a large number of genes. Approximately 80% of the variation in human height is attributable to heritable, genetic factors.
Timothy Frayling and colleagues combined data from 79 studies of human height to identify new genes involved in determining adult height. They found a total of 697 genetic variants strongly associated with height. In comparison, the most recent study of human height, which included 183,727 subjects, identified only 180 genetic variants. The authors estimate that tens of thousands of variants, most with very small effects, contribute to the variation observed for height. The 697 variants found by Frayling and colleagues explain approximately 16% of this variation. The set of genes corresponding to these variants was enriched for genes involved in growth and formation of bone and cartilage, such as collagen genes and the bone formation gene osteoglycin. However, some of the new genes have no known function in growth regulation and represent promising avenues for future research.