Quantifying genetic heterogeneity between continental populations for human height and body mass index

Abstract Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands of genetic variants associated with complex traits in humans. However, it remains largely unclear whether these associations can be used in non-European populations. Here, we seek to quantify th...

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Main Authors: Jing Guo, Andrew Bakshi, Ying Wang, Longda Jiang, Loic Yengo, Michael E. Goddard, Peter M. Visscher, Jian Yang
Format: Article
Language:English
Published: Nature Portfolio 2021-03-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-84739-z
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author Jing Guo
Andrew Bakshi
Ying Wang
Longda Jiang
Loic Yengo
Michael E. Goddard
Peter M. Visscher
Jian Yang
author_facet Jing Guo
Andrew Bakshi
Ying Wang
Longda Jiang
Loic Yengo
Michael E. Goddard
Peter M. Visscher
Jian Yang
author_sort Jing Guo
collection DOAJ
description Abstract Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands of genetic variants associated with complex traits in humans. However, it remains largely unclear whether these associations can be used in non-European populations. Here, we seek to quantify the proportion of genetic variation for a complex trait shared between continental populations. We estimated the between-population correlation of genetic effects at all SNPs ( $$r_{g}$$ r g ) or genome-wide significant SNPs ( $$r_{{g\left( {GWS} \right)}}$$ r g GWS ) for height and body mass index (BMI) in samples of European (EUR; $$n = 49,839$$ n = 49 , 839 ) and African (AFR; $$n = 17,426$$ n = 17 , 426 ) ancestry. The $$\hat{r}_{g}$$ r ^ g between EUR and AFR was 0.75 ( $${\text{s}}.{\text{e}}. = 0.035$$ s . e . = 0.035 ) for height and 0.68 ( $${\text{s}}.{\text{e}}. = 0.062$$ s . e . = 0.062 ) for BMI, and the corresponding $$\hat{r}_{{g\left( {GWS} \right)}}$$ r ^ g GWS was 0.82 ( $${\text{s}}.{\text{e}}. = 0.030$$ s . e . = 0.030 ) for height and 0.87 ( $${\text{s}}.{\text{e}}. = 0.064$$ s . e . = 0.064 ) for BMI, suggesting that a large proportion of GWAS findings discovered in Europeans are likely applicable to non-Europeans for height and BMI. There was no evidence that $$\hat{r}_{g}$$ r ^ g differs in SNP groups with different levels of between-population difference in allele frequency or linkage disequilibrium, which, however, can be due to the lack of power.
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spelling doaj.art-57eb2e25461342fd966d50ab4d8754722022-12-21T20:35:53ZengNature PortfolioScientific Reports2045-23222021-03-011111910.1038/s41598-021-84739-zQuantifying genetic heterogeneity between continental populations for human height and body mass indexJing Guo0Andrew Bakshi1Ying Wang2Longda Jiang3Loic Yengo4Michael E. Goddard5Peter M. Visscher6Jian Yang7Institute for Molecular Bioscience, The University of QueenslandMonash Partners Comprehensive Cancer Consortium, Monash Biomedicine Discovery Institute Cancer Program, Prostate Cancer Research Group, Department of Anatomy and Developmental Biology, Monash UniversityInstitute for Molecular Bioscience, The University of QueenslandInstitute for Molecular Bioscience, The University of QueenslandInstitute for Molecular Bioscience, The University of QueenslandFaculty of Veterinary and Agricultural Science, University of MelbourneInstitute for Molecular Bioscience, The University of QueenslandInstitute for Molecular Bioscience, The University of QueenslandAbstract Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands of genetic variants associated with complex traits in humans. However, it remains largely unclear whether these associations can be used in non-European populations. Here, we seek to quantify the proportion of genetic variation for a complex trait shared between continental populations. We estimated the between-population correlation of genetic effects at all SNPs ( $$r_{g}$$ r g ) or genome-wide significant SNPs ( $$r_{{g\left( {GWS} \right)}}$$ r g GWS ) for height and body mass index (BMI) in samples of European (EUR; $$n = 49,839$$ n = 49 , 839 ) and African (AFR; $$n = 17,426$$ n = 17 , 426 ) ancestry. The $$\hat{r}_{g}$$ r ^ g between EUR and AFR was 0.75 ( $${\text{s}}.{\text{e}}. = 0.035$$ s . e . = 0.035 ) for height and 0.68 ( $${\text{s}}.{\text{e}}. = 0.062$$ s . e . = 0.062 ) for BMI, and the corresponding $$\hat{r}_{{g\left( {GWS} \right)}}$$ r ^ g GWS was 0.82 ( $${\text{s}}.{\text{e}}. = 0.030$$ s . e . = 0.030 ) for height and 0.87 ( $${\text{s}}.{\text{e}}. = 0.064$$ s . e . = 0.064 ) for BMI, suggesting that a large proportion of GWAS findings discovered in Europeans are likely applicable to non-Europeans for height and BMI. There was no evidence that $$\hat{r}_{g}$$ r ^ g differs in SNP groups with different levels of between-population difference in allele frequency or linkage disequilibrium, which, however, can be due to the lack of power.https://doi.org/10.1038/s41598-021-84739-z
spellingShingle Jing Guo
Andrew Bakshi
Ying Wang
Longda Jiang
Loic Yengo
Michael E. Goddard
Peter M. Visscher
Jian Yang
Quantifying genetic heterogeneity between continental populations for human height and body mass index
Scientific Reports
title Quantifying genetic heterogeneity between continental populations for human height and body mass index
title_full Quantifying genetic heterogeneity between continental populations for human height and body mass index
title_fullStr Quantifying genetic heterogeneity between continental populations for human height and body mass index
title_full_unstemmed Quantifying genetic heterogeneity between continental populations for human height and body mass index
title_short Quantifying genetic heterogeneity between continental populations for human height and body mass index
title_sort quantifying genetic heterogeneity between continental populations for human height and body mass index
url https://doi.org/10.1038/s41598-021-84739-z
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