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Hundreds of variants clustered in genomic loci and biological pathways affect human height.

TitleHundreds of variants clustered in genomic loci and biological pathways affect human height.
Publication TypeJournal Article
Year of Publication2010
AuthorsAllen HLango, Estrada K, Lettre G, et al.
JournalNature
Volume467
Issue7317
Pagination832-8
Date Published2010 Oct 14
ISSN1476-4687
KeywordsBody Height, Chromosomes, Human, Pair 3, Genetic Loci, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Metabolic Networks and Pathways, Multifactorial Inheritance, Phenotype, Polymorphism, Single Nucleotide
Abstract

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P 

DOI10.1038/nature09410
Alternate JournalNature
PubMed ID20881960
PubMed Central IDPMC2955183
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