Common Variants in the GDF5-UQCC Region Are Associated with Variation in Human Height

Overview

Journal Nat Genet

Specialty Genetics

Date 2008 Jan 15

PMID 18193045

Citations 209

Authors

Serena Sanna

Anne U Jackson

Ramaiah Nagaraja

Cristen J Willer

Wei-Min Chen

Lori L Bonnycastle

Haiqing Shen

Nicholas Timpson

Guillaume Lettre

Gianluca Usala

Peter S Chines

Heather M Stringham

Laura J Scott

Mariano Dei

Sandra Lai

Giuseppe Albai

Laura Crisponi

Silvia Naitza

Kimberly F Doheny

Elizabeth W Pugh

Yoav Ben-Shlomo

Shah Ebrahim

Debbie A Lawlor

Richard N Bergman

Richard M Watanabe

Manuela Uda

Jaakko Tuomilehto

Josef Coresh

Joel N Hirschhorn

Alan R Shuldiner

David Schlessinger

Francis S Collins

George Davey Smith

Eric Boerwinkle

Antonio Cao

Michael Boehnke

Goncalo R Abecasis

Karen L Mohlke

Affiliations

Soon will be listed here.

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.

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