title: 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.
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.
authors.forename: Serena
authors.initials: S
authors.lastname: Sanna
authors.forename: Anne U
authors.initials: AU
authors.lastname: Jackson
authors.forename: Ramaiah
authors.initials: R
authors.lastname: Nagaraja
authors.forename: Cristen J
authors.initials: CJ
authors.lastname: Willer
authors.forename: Wei-Min
authors.initials: WM
authors.lastname: Chen
authors.forename: Lori L
authors.initials: LL
authors.lastname: Bonnycastle
authors.forename: Haiqing
authors.initials: H
authors.lastname: Shen
authors.forename: Nicholas
authors.initials: N
authors.lastname: Timpson
authors.forename: Guillaume
authors.initials: G
authors.lastname: Lettre
authors.forename: Gianluca
authors.initials: G
authors.lastname: Usala
authors.forename: Peter S
authors.initials: PS
authors.lastname: Chines
authors.forename: Heather M
authors.initials: HM
authors.lastname: Stringham
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Scott
authors.forename: Mariano
authors.initials: M
authors.lastname: Dei
authors.forename: Sandra
authors.initials: S
authors.lastname: Lai
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Albai
authors.forename: Laura
authors.initials: L
authors.lastname: Crisponi
authors.forename: Silvia
authors.initials: S
authors.lastname: Naitza
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.forename: Elizabeth W
authors.initials: EW
authors.lastname: Pugh
authors.forename: Yoav
authors.initials: Y
authors.lastname: Ben-Shlomo
authors.forename: Shah
authors.initials: S
authors.lastname: Ebrahim
authors.forename: Debbie A
authors.initials: DA
authors.lastname: Lawlor
authors.forename: Richard N
authors.initials: RN
authors.lastname: Bergman
authors.forename: Richard M
authors.initials: RM
authors.lastname: Watanabe
authors.forename: Manuela
authors.initials: M
authors.lastname: Uda
authors.forename: Jaakko
authors.initials: J
authors.lastname: Tuomilehto
authors.forename: Josef
authors.initials: J
authors.lastname: Coresh
authors.forename: Joel N
authors.initials: JN
authors.lastname: Hirschhorn
authors.forename: Alan R
authors.initials: AR
authors.lastname: Shuldiner
authors.forename: David
authors.initials: D
authors.lastname: Schlessinger
authors.forename: Francis S
authors.initials: FS
authors.lastname: Collins
authors.forename: George
authors.initials: G
authors.lastname: Davey Smith
authors.forename: Eric
authors.initials: E
authors.lastname: Boerwinkle
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Michael
authors.initials: M
authors.lastname: Boehnke
authors.forename: Gonçalo R
authors.initials: GR
authors.lastname: Abecasis
authors.forename: Karen L
authors.initials: KL
authors.lastname: Mohlke
mesh_terms: D020121:5' Untranslated Regions; D001741:Black or African American; D000368:Aged; D000483:Alleles; D001827:Body Height / Q000235:genetics*; D015992:Body Mass Index; D019485:Bone Morphogenetic Proteins / Q000235:genetics* / Q000378:metabolism; D002890:Chromosomes, Human, Pair 20; D015986:Confounding Factors, Epidemiologic; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D015894:Genome, Human; D055428:Growth Differentiation Factor 5; D025743:HMGA2 Protein / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011336:Probability; D011994:Recombinant Proteins / Q000378:metabolism; D012044:Regression Analysis
chemical_list: D020121:5' Untranslated Regions; D019485:Bone Morphogenetic Proteins; C525893:GDF5 protein, human; D005819:Genetic Markers; D055428:Growth Differentiation Factor 5; D025743:HMGA2 Protein; D011994:Recombinant Proteins