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. Author manuscript; available in PMC: 2023 Feb 1.
Published in final edited form as: J Hepatol. 2021 Oct 14;76(2):275–282. doi: 10.1016/j.jhep.2021.10.005

Table 1.

Score construction and validation plan.

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