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

TitleCommon variants in the GDF5-UQCC region are associated with variation in human height.
Publication TypeJournal Article
Year of Publication2008
AuthorsSanna S, Jackson AU, Nagaraja R, Willer CJ, Chen W-M, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF, Pugh EW, Ben-Shlomo Y, Ebrahim S, Lawlor DA, Bergman RN, Watanabe RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR, Schlessinger D, Collins FS, Smith GDavey, Boerwinkle E, Cao A, Boehnke M, Abecasis GR, Mohlke KL
JournalNat Genet
Volume40
Issue2
Pagination198-203
Date Published2008 Feb
ISSN1546-1718
Keywords5' Untranslated Regions, African Americans, Aged, Alleles, Body Height, Body Mass Index, Bone Morphogenetic Proteins, Chromosomes, Human, Pair 20, Confounding Factors, Epidemiologic, Female, Gene Dosage, Gene Frequency, Genetic Markers, Genetic Variation, Genome, Human, Growth Differentiation Factor 5, Haplotypes, HMGA2 Protein, Humans, Linkage Disequilibrium, Male, Middle Aged, Osteoarthritis, Polymorphism, Single Nucleotide, Probability, Recombinant Proteins, Regression Analysis
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

DOI10.1038/ng.74
Alternate JournalNat Genet
PubMed ID18193045
PubMed Central IDPMC2914680
Grant ListN01HC55020 / HL / NHLBI NIH HHS / United States
R01 AR046838 / AR / NIAMS NIH HHS / United States
G0000934 / MRC_ / Medical Research Council / United Kingdom
R01 HG002651 / HG / NHGRI NIH HHS / United States
N01-HC-55016 / HC / NHLBI NIH HHS / United States
R01 DK072193 / DK / NIDDK NIH HHS / United States
HL72515 / HL / NHLBI NIH HHS / United States
N01HC55015 / HL / NHLBI NIH HHS / United States
R01 DK062370 / DK / NIDDK NIH HHS / United States
N01-HC-55019 / HC / NHLBI NIH HHS / United States
N01-HC-55015 / HC / NHLBI NIH HHS / United States
Z01 HG000024 / ImNIH / Intramural NIH HHS / United States
U01 DK062370 / DK / NIDDK NIH HHS / United States
R01 DK072193-04 / DK / NIDDK NIH HHS / United States
AR046838 / AR / NIAMS NIH HHS / United States
U01 HL084729-03 / HL / NHLBI NIH HHS / United States
R01 AG018728 / AG / NIA NIH HHS / United States
R56 DK062370 / DK / NIDDK NIH HHS / United States
N01HG65403 / HG / NHGRI NIH HHS / United States
N01HC55018 / HL / NHLBI NIH HHS / United States
U01 HL084729 / HL / NHLBI NIH HHS / United States
G0600705 / MRC_ / Medical Research Council / United Kingdom
N01-HC-55022 / HC / NHLBI NIH HHS / United States
068545/Z/02 / WT_ / Wellcome Trust / United Kingdom
N01HC55022 / HL / NHLBI NIH HHS / United States
HG002651 / HG / NHGRI NIH HHS / United States
M01 RR 16500 / RR / NCRR NIH HHS / United States
N01-HC-55021 / HC / NHLBI NIH HHS / United States
DK072193 / DK / NIDDK NIH HHS / United States
HL084729 / HL / NHLBI NIH HHS / United States
P30 DK072488 / DK / NIDDK NIH HHS / United States
R01 DK029867 / DK / NIDDK NIH HHS / United States
N01-HC-55020 / HC / NHLBI NIH HHS / United States
DK54361 / DK / NIDDK NIH HHS / United States
N01HC55016 / HL / NHLBI NIH HHS / United States
U01 HL072515 / HL / NHLBI NIH HHS / United States
R01 HG002651-05S2 / HG / NHGRI NIH HHS / United States
M01 RR016500 / RR / NCRR NIH HHS / United States
AG18728 / AG / NIA NIH HHS / United States
DK062370 / DK / NIDDK NIH HHS / United States
N01HC55019 / HL / NHLBI NIH HHS / United States
N01-HC-55018 / HC / NHLBI NIH HHS / United States
N01HC55021 / HL / NHLBI NIH HHS / United States