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

By Jing Guo, Andrew Bakshi, Ying Wang, Longda Jiang, Loic Yengo, Michael E Goddard, Peter M Visscher, Jian Yang

Posted 14 Nov 2019
bioRxiv DOI: 10.1101/839373

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 (rg) or genome-wide significant SNPs (rg(GWS)) for height and body mass index (BMI) in samples of European (EUR; n=49,839) and African (AFR; n=17,426) ancestry. The rg between EUR and AFR was 0.75 (s.e.=0.035) for height and 0.68 (s.e.=0.062) for BMI, and the corresponding rg(GWS) was 0.82 (s.e.=0.030) for height and 0.87 (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 rg 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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