Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans

Yang, Jian, Lee, Taeheon, Kim, Jaemin, Cho, Myeong-Chan, Han, Bok-Ghee, Lee, Jong-Young, Lee, Hyun-Jeong, Cho, Seoae and Kim, Heebal (2013) Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans. PLoS Genetics, 9 3: e1003355.1-e1003355.9. doi:10.1371/journal.pgen.1003355

Author Yang, Jian
Lee, Taeheon
Kim, Jaemin
Cho, Myeong-Chan
Han, Bok-Ghee
Lee, Jong-Young
Lee, Hyun-Jeong
Cho, Seoae
Kim, Heebal
Title Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7404
Publication date 2013-03
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1003355
Open Access Status DOI
Volume 9
Issue 3
Start page e1003355.1
End page e1003355.9
Total pages 9
Place of publication San Francisco, CA, United States
Publisher Public Library of Science
Collection year 2014
Language eng
Abstract Recent studies in population of European ancestry have shown that 30%~50% of heritability for human complex traits such as height and body mass index, and common diseases such as schizophrenia and rheumatoid arthritis, can be captured by common SNPs and that genetic variation attributed to chromosomes are in proportion to their length. Using genome-wide estimation and partitioning approaches, we analysed 49 human quantitative traits, many of which are relevant to human diseases, in 7,170 unrelated Korean individuals genotyped on 326,262 SNPs. For 43 of the 49 traits, we estimated a nominally significant (P<0.05) proportion of variance explained by all SNPs on the Affymetrix 5.0 genotyping array (hG 2). On average across 47 of the 49 traits for which the estimate of hG 2 is non-zero, common SNPs explain approximately one-third (range of 7.8% to 76.8%) of narrow sense heritability. The estimate of hG 2 is highly correlated with the proportion of SNPs with association P<0.031 (r2 = 0.92). Longer genomic segments tend to explain more phenotypic variation, with a correlation of 0.78 between the estimate of variance explained by individual chromosomes and their physical length, and 1% of the genome explains approximately 1% of the genetic variance. Despite the fact that there are a few SNPs with large effects for some traits, these results suggest that polygenicity is ubiquitous for most human complex traits and that a substantial proportion of the "missing heritability" is captured by common SNPs.
Keyword Heritability
Quantitative traits
Complex traits
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
UQ Diamantina Institute Publications
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