Genome Partitioning of Genetic Variation for Complex Traits Using Common SNPs

Nat Genet. 2011 Jun;43(6):519-25. doi: 10.1038/ng.823. Epub 2011 May 8.

Abstract

We estimate and partition genetic variation for height, body mass index (BMI), von Willebrand factor and QT interval (QTi) using 586,898 SNPs genotyped on 11,586 unrelated individuals. We estimate that ∼45%, ∼17%, ∼25% and ∼21% of the variance in height, BMI, von Willebrand factor and QTi, respectively, can be explained by all autosomal SNPs and a further ∼0.5-1% can be explained by X chromosome SNPs. We show that the variance explained by each chromosome is proportional to its length, and that SNPs in or near genes explain more variation than SNPs between genes. We propose a new approach to estimate variation due to cryptic relatedness and population stratification. Our results provide further evidence that a substantial proportion of heritability is captured by common SNPs, that height, BMI and QTi are highly polygenic traits, and that the additive variation explained by a part of the genome is approximately proportional to the total length of DNA contained within genes therein.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Body Height / genetics
  • Body Mass Index
  • Chromosomes*
  • Chromosomes, Human, X
  • Genetic Variation*
  • Genetics, Population
  • Genome-Wide Association Study
  • Humans
  • Models, Genetic
  • Polymorphism, Single Nucleotide*
  • X Chromosome Inactivation
  • von Willebrand Factor / genetics

Substances

  • von Willebrand Factor