4.8 Article

Genome partitioning of genetic variation for complex traits using common SNPs

Journal

NATURE GENETICS
Volume 43, Issue 6, Pages 519-U44

Publisher

NATURE PORTFOLIO
DOI: 10.1038/ng.823

Keywords

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Funding

  1. US National Institutes of Health Genes, Environment and Health Initiative
  2. Research to Prevent Blindness in New York City
  3. Canadian Institutes of Health Research
  4. Australian National Health and Medical Research Council (NHMRC) [389892, 613672]
  5. Australian Research Council (ARC) [DP0770096, DP1093900]
  6. [U01 HG 004402]
  7. [U01 HG 004399]
  8. [U01 HG 004728]
  9. [U01 HG04424]
  10. [U01 HG 004446]

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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 similar to 45%, similar to 17%, similar to 25% and similar to 21% of the variance in height, BMI, von Willebrand factor and QTi, respectively, can be explained by all autosomal SNPs and a further similar to 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.

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