Hundreds of variants clustered in genomic loci and biological pathways affect human height
Research output: Contribution to journal › Journal article › Research › peer-review
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
Original language | English |
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Journal | Nature |
Volume | 467 |
Issue number | 7317 |
Pages (from-to) | 832-8 |
Number of pages | 7 |
DOIs | |
Publication status | Published - 14 Oct 2010 |
- Body 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
Research areas
ID: 46280223