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

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...

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Vydáno v:	Nature genetics Ročník 40; číslo 2; s. 198 - 203
Hlavní autoři:	Sanna, Serena, Jackson, Anne U, Nagaraja, Ramaiah, Willer, Cristen J, Chen, Wei-Min, Bonnycastle, Lori L, Shen, Haiqing, Timpson, Nicholas, Lettre, Guillaume, Usala, Gianluca, Chines, Peter S, Stringham, Heather M, Scott, Laura J, Dei, Mariano, Lai, Sandra, Albai, Giuseppe, Crisponi, Laura, Naitza, Silvia, Doheny, Kimberly F, Pugh, Elizabeth W, Ben-Shlomo, Yoav, Ebrahim, Shah, Lawlor, Debbie A, Bergman, Richard N, Watanabe, Richard M, Uda, Manuela, Tuomilehto, Jaakko, Coresh, Josef, Hirschhorn, Joel N, Shuldiner, Alan R, Schlessinger, David, Collins, Francis S, Smith, George Davey, Boerwinkle, Eric, Cao, Antonio, Boehnke, Michael, Abecasis, Gonçalo R, Mohlke, Karen L
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	New York Nature Publishing Group US 01.02.2008 Nature Publishing Group
Témata:	5' Untranslated Regions Aged Agriculture Alleles Animal Genetics and Genomics Arthritis Biological and medical sciences Biomedical and Life Sciences Biomedicine Black or African American Body Height - genetics Body Mass Index Bone Morphogenetic Proteins - genetics Bone Morphogenetic Proteins - metabolism Cancer Research Chromosomes, Human, Pair 20 Confounding Factors, Epidemiologic Female Fundamental and applied biological sciences. Psychology Gene Dosage Gene Frequency Gene Function Genetic aspects Genetic Markers Genetic variance Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genotype & phenotype Growth Differentiation Factor 5 Haplotypes Height HMGA2 Protein - genetics Human Genetics Humans letter Linkage Disequilibrium Male Middle Aged Osteoarthritis Osteoarthritis - genetics Physiological aspects Polymorphism, Single Nucleotide Probability Recombinant Proteins - metabolism Regression Analysis Risk factors Stature Italy Human Variant
ISSN:	1061-4036, 1546-1718, 1546-1718
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Shrnutí:	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 1 . 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 2 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.
Bibliografie:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 14 ObjectType-Article-1 ObjectType-Feature-2 content type line 23
ISSN:	1061-4036 1546-1718 1546-1718
DOI:	10.1038/ng.74