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


ABSTRACT: 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 population. 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 show that common variants in the osteoarthritis-associated locus GDF5-UQCC contribute to variation in height with an estimated additive effect of 0.44 cm (overall P < 10(-15)). Our results indicate that there may be a link between the genetic basis of height and osteoarthritis, potentially mediated through alterations in bone growth and development.

SUBMITTER: Sanna S 

PROVIDER: S-EPMC2914680 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature

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

Sanna Serena S   Jackson Anne U AU   Nagaraja Ramaiah R   Willer Cristen J CJ   Chen Wei-Min WM   Bonnycastle Lori L LL   Shen Haiqing H   Timpson Nicholas N   Lettre Guillaume G   Usala Gianluca G   Chines Peter S PS   Stringham Heather M HM   Scott Laura J LJ   Dei Mariano M   Lai Sandra S   Albai Giuseppe G   Crisponi Laura L   Naitza Silvia S   Doheny Kimberly F KF   Pugh Elizabeth W EW   Ben-Shlomo Yoav Y   Ebrahim Shah S   Lawlor Debbie A DA   Bergman Richard N RN   Watanabe Richard M RM   Uda Manuela M   Tuomilehto Jaakko J   Coresh Josef J   Hirschhorn Joel N JN   Shuldiner Alan R AR   Schlessinger David D   Collins Francis S FS   Davey Smith George G   Boerwinkle Eric E   Cao Antonio A   Boehnke Michael M   Abecasis Gonçalo R GR   Mohlke Karen L KL  

Nature genetics 20080113 2


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 population. Here we report genome-wide association analyses, using genotyped and imputed markers, of 6,669 individuals from Finland and Sardinia,  ...[more]

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