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LETTER doi:10.1038/nature09410 Hundreds of variants clustered in genomic loci and

Summary: LETTER doi:10.1038/nature09410
Hundreds of variants clustered in genomic loci and
biological pathways affect human height
A full list of authors and their affiliations appears at the end of the paper.
Most common human traits and diseases have a polygenic pattern
of inheritance: DNA sequence variants at many genetic loci influ-
ence the phenotype. Genome-wide association (GWA) studies have
identified more than 600 variants associated with human traits1
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 trait2,3
. 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 5 0.016) and that underlie skeletal growth defects (P , 0.001).
Second, the likely causal gene is often located near the most


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan
Nyholt, Dale R. - Genetic Epidemiology Laboratory, Queensland Institute of Medical Research
Raychaudhuri, Soumya - Division of Genetics, Brigham and Women's Hospital, Harvard University


Collections: Biology and Medicine; Mathematics