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Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans

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 chromosom...

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Autores principales: Yang, Jian, Lee, Taeheon, Kim, Jaemin, Cho, Myeong-Chan, Han, Bok-Ghee, Lee, Jong-Young, Lee, Hyun-Jeong, Cho, Seoae, Kim, Heebal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591292/
https://www.ncbi.nlm.nih.gov/pubmed/23505390
http://dx.doi.org/10.1371/journal.pgen.1003355
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author Yang, Jian
Lee, Taeheon
Kim, Jaemin
Cho, Myeong-Chan
Han, Bok-Ghee
Lee, Jong-Young
Lee, Hyun-Jeong
Cho, Seoae
Kim, Heebal
author_facet Yang, Jian
Lee, Taeheon
Kim, Jaemin
Cho, Myeong-Chan
Han, Bok-Ghee
Lee, Jong-Young
Lee, Hyun-Jeong
Cho, Seoae
Kim, Heebal
author_sort Yang, Jian
collection PubMed
description 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 ([Image: see text]). On average across 47 of the 49 traits for which the estimate of [Image: see text] is non-zero, common SNPs explain approximately one-third (range of 7.8% to 76.8%) of narrow sense heritability. The estimate of [Image: see text] is highly correlated with the proportion of SNPs with association P<0.031 (r (2) = 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.
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spelling pubmed-35912922013-03-15 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 Kim, Heebal PLoS Genet Research Article 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 ([Image: see text]). On average across 47 of the 49 traits for which the estimate of [Image: see text] is non-zero, common SNPs explain approximately one-third (range of 7.8% to 76.8%) of narrow sense heritability. The estimate of [Image: see text] is highly correlated with the proportion of SNPs with association P<0.031 (r (2) = 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. Public Library of Science 2013-03-07 /pmc/articles/PMC3591292/ /pubmed/23505390 http://dx.doi.org/10.1371/journal.pgen.1003355 Text en © 2013 Yang et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Yang, Jian
Lee, Taeheon
Kim, Jaemin
Cho, Myeong-Chan
Han, Bok-Ghee
Lee, Jong-Young
Lee, Hyun-Jeong
Cho, Seoae
Kim, Heebal
Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
title Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
title_full Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
title_fullStr Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
title_full_unstemmed Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
title_short Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans
title_sort ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in koreans
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591292/
https://www.ncbi.nlm.nih.gov/pubmed/23505390
http://dx.doi.org/10.1371/journal.pgen.1003355
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