摘要：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 ([Formula: see text]) or genome-wide significant SNPs ([Formula: see text]) for height and body mass index (BMI) in samples of European (EUR; [Formula: see text]) and African (AFR; [Formula: see text]) ancestry. The [Formula: see text] between EUR and AFR was 0.75 ([Formula: see text]) for height and 0.68 ([Formula: see text]) for BMI, and the corresponding [Formula: see text] was 0.82 ([Formula: see text]) for height and 0.87 ([Formula: see text]) 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 [Formula: see text] 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.
其他摘要：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.
