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Horm Res. 2009 Apr;71 Suppl 2:5-13. doi: 10.1159/000192430. Epub 2009 Apr 29.

Progress in genome-wide association studies of human height.

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Divisions of Endocrinology and Genetics and Program in Genomics, Children's Hospital, Boston, MA 2115 USA.


Human height (stature) is a strongly genetic trait, with up to 90% of the variation in height within a population determined by a combination of multiple inherited factors. Recent advances in genetics and genomics now permit comprehensive genome-wide surveys of common genetic variations in those variants that are associated with stature. The first such studies have borne fruit, identifying over 40 genetic loci that can be reproducibly shown to have an influence on adult height. These unbiased searches throughout the genome identified several loci that also harbour rare mutations responsible for more severe alterations in height or skeletal growth. Although the predictive value of the common variants thus far discovered remains low, the identification of these loci has led to new insights into the biology of human growth, and may help identify genes that underlie previously uncharacterized syndromes of abnormal skeletal growth.

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