Table 2. Predicted and observed number of genome-wide-significant hits and PGS R2, for large-scale GWAS efforts to date for height, BMI, EduYears, and self-rated health, assuming 250k effective SNPs (i.e., independent haplotype blocks) of which 20k trait-affecting, using averaged GREML estimates from Table 1 for setting SNP heritability and CGR.
Phenotype | Main studies | Architecture | Number of hits | PGS R2 using all SNPs | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Study | N | C ** | CGR | Study | Theory|CGR | Attenuation* | Study | Theory|CGR | Attenuation* | ||||
<1 | =1 | <1 | =1 | ||||||||||
Height | Wood et al. (2014) [1] | 253,288 | 79 | 44.9% | 0.965 | 697 | 647.26 | 700.24 | 8% | 13.5% | 13.2% | 14.0% | 6% |
Allen et al. (2010) [46] | 183,727 | 61 | 44.9% | 0.965 | 180 | 292.03 | 320.77 | 9% | 10.0% | 10.5% | 11.1% | 6% | |
Weedon et al. (2008) [47] | 13,665 | 5 | 44.9% | 0.965 | 7 | 0.00 | 0.00 | n.a. | 2.9% | 1.0% | 1.1% | 7% | |
BMI | Locke et al. (2015) [2] | 339,224 | 125 | 21.9% | 0.917 | 97 | 188.52 | 241.07 | 22% | 6.5% | 4.3% | 5.0% | 14% |
Speliotes et al. (2010) [48] | 123,865 | 46 | 21.9% | 0.917 | 19 | 5.48 | 7.64 | 28% | 2.5% | 1.8% | 2.1% | 15% | |
Willer et al. (2008) [49] | 32,387 | 15 | 21.9% | 0.917 | 1 | 0.01 | 0.02 | 65% | n.a. | 0.5% | 0.6% | 16% | |
EduYears | Okbay et al. (2016) [7] | 405,072 | 65 | 18.2% | 0.783 | 162 | 115.28 | 235.90 | 51% | n.a. | 2.7% | 4.1% | 36% |
Okbay et al. (2016) [7] | 293,723 | 64 | 18.2% | 0.783 | 74 | 39.30 | 88.93 | 56% | 3.9% | 2.0% | 3.2% | 36% | |
Rietveld et al. (2013) [50] | 101,069 | 42 | 18.2% | 0.783 | 1 | 0.63 | 1.64 | 62% | 2.5% | 0.8% | 1.2% | 38% | |
Self-rated health | Harris et al. (2016) [51] | 111,749 | 1 | 15.7% | 0.468 | 13 | 1.35 | 1.35 | 0% | n.a. | 0.2% | 1.0% | 78% |
* Attenuation measures the relatively loss in expected power and R2 due to a CGR in accordance with averaged GREML estimates from Table 1.
** C denotes the number of studies in the meta-analysis.