Table 1.
Cohorts available for independent validation | ||||
---|---|---|---|---|
GenomALC-1 (N=1690) |
GenomALC-2 (N=3037) |
UK Biobank (N=6898) |
||
1 | 3-SNP score, using SNPs and coefficients from initial reports17,18 = (0.7839*PNPLA3 rs738409 G dosage) + (0.5423*SUGP1-TM6SF2 rs10401969 C dosage) − (0.4463*HSD17B13 rs6834314 G dosage) | Yes | Yes | Yes |
2 | 3-SNP score as in 1 above, with addition of BMI and coffee = [1] + (0.0709*BMI) − (0.645*Coffee) | No (BMI and coffee coefficients are derived from this cohort) | No (no information of BMI and coffee) | Yes |
3 | 3-SNP-M score, using SNPs and coefficients from meta-analysis20 = (0.7274*PNPLA3 rs2294915 T dosage) + (0.3988*SUGP1 rs10401969 C dosage) − (0.2485*HSD17B13 rs10433937 G dosage) | No* | Yes | No* |
4 | 5-SNP-M score; as in 3 above but with addition of two GW-significant SNPs from meta-analysis = [3] + (0.6419*SERPINA1 rs28929474 T dosage) − (0.2357*FAF2 rs11134997 C dosage) | No* | Yes | No* |
5 | 8-SNP-M score; as in 4 but with three additional SNPs with genome-wide significant associations with alcohol-related liver disease = [4] + (0.1446*MBOAT7 rs641738 T dosage) − (0.2401*MTARC1 rs2642438 A dosage) − (0.1304*HNRNPUL1 rs17251589 T dosage) | No* | Yes | No* |
SNP coefficients are derived from this cohort