Common variants in the GDF5-UQCC region are associated with variation in human height
- Sanna, Serena
- Jackson, Anne U
- Nagaraja, Ramaiah
- Willer, Cristen J
- Chen, Wei-Min
- Bonnycastle, Lori L
- Shen, Haiqing
- Timpson, Nicholas
- Lettre, Guillaume
- Usala, Gianluca
- Chines, Peter S
- Stringham, Heather M
- Scott, Laura J
- Dei, Mariano
- Lai, Sandra
- Albai, Giuseppe
- Crisponi, Laura
- Naitza, Silvia
- Doheny, Kimberly F
- Pugh, Elizabeth W
- Ben-Shlomo, Yoav
- Ebrahim, Shah
- Lawlor, Debbie A
- Bergman, Richard N
- Watanabe, Richard M
- Uda, Manuela
- Tuomilehto, Jaakko
- Coresh, Josef
- Hirschhorn, Joel N
- Shuldiner, Alan R
- Schlessinger, David
- Collins, Francis S
DOIAbstract
Identifying genetic variants that influence human height will further our understanding of skeletal growth and development. A number of rare genetic variants have been convincingly and reproducibly associated with height in Mendelian syndromes, and common variants in HMGA2 were recently found to be associated with variation in height in the general population1. Here, we report genome-wide association analyses of 6,669 individuals from Finland and Sardinia, using genotyped and imputed markers, and follow-up in an additional 28,801 individuals. We show that common variants in the osteoarthritis-associated2GDF5-BFZB locus are responsible for variation in height (estimated additive effect of 0.44 cm, overall p<10−15). Our results suggest a link...
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