期刊
NATURE GENETICS
卷 54, 期 3, 页码 263-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-021-00997-7
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资金
- Australian Research Council [DP160102400, FL180100072, DE200100425, FT180100186]
- Australian National Health and Medical Research Council [1113400, 1078037]
- US National Institutes of Health (NIH) [R01MH100141]
- Sylvia & Charles Viertel Charitable Foundation
- Westlake Education Foundation
- NHLBI
- Australian Research Council [FT180100186, DE200100425] Funding Source: Australian Research Council
The analysis of whole-genome sequences of 25,465 individuals of European ancestry reveals that rare variants play a significant role in the heritability of height and body mass index.
Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error 0.10) for height and 0.30 (standard error 0.10) for body mass index. Low minor allele frequency variants in low linkage disequilibrium (LD) with neighboring variants were enriched for heritability, to a greater extent for protein-altering variants, consistent with negative selection. Our results imply that rare variants, in particular those in regions of low linkage disequilibrium, are a major source of the still missing heritability of complex traits and disease. Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.
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