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Common variants in the GDF5-UQCC region are associated with variation in human height

Summary: Common variants in the GDF5-UQCC region are
associated with variation in human height
Serena Sanna1,2,19, Anne U Jackson1,19, Ramaiah Nagaraja3, Cristen J Willer1, Wei-Min Chen1,4,
Lori L Bonnycastle5, Haiqing Shen6, Nicholas Timpson7,8, Guillaume Lettre9, Gianluca Usala2, Peter S Chines5,
Heather M Stringham1, Laura J Scott1, Mariano Dei2, Sandra Lai2, Giuseppe Albai2, Laura Crisponi2,
Silvia Naitza2, Kimberly F Doheny10, Elizabeth W Pugh10, Yoav Ben-Shlomo7, Shah Ebrahim11,
Debbie A Lawlor7,8, Richard N Bergman12, Richard M Watanabe12,13, Manuela Uda2, Jaakko Tuomilehto14,
Josef Coresh15, Joel N Hirschhorn9, Alan R Shuldiner6,16, David Schlessinger3, Francis S Collins5,
George Davey Smith7,8, Eric Boerwinkle17, Antonio Cao2, Michael Boehnke1, Gonc¸alo R Abecasis1 &
Karen L Mohlke18
Identifying genetic variants that influence human height
will advance our understanding of skeletal growth and
development. Several rare genetic variants have been
convincingly and reproducibly associated with height in
mendelian syndromes, and common variants in the
transcription factor gene HMGA2 are associated with variation
in height in the general population1. Here we report genome-
wide association analyses, using genotyped and imputed
markers, of 6,669 individuals from Finland and Sardinia, and
follow-up analyses in an additional 28,801 individuals. We


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics