Skip to main content

Advertisement

Table 3 Major SNP association results with NAFLD (case-control), and 4 quantitative case-only GWA studies (NAS score, fibrosis, liver enzymes ALT and AST) in the eMERGE Network. All results adjusted for age, gender, site of genotyping, 3 first principal components, and BMI. For more details and results with p < 10− 5, see Additional file 1: Table S2

From: GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network

NAFLD-GWAS
 SNP CHR Positiona Gene Minor allele MAFb OR L95 U95 p
 rs738409 22 44,324,727 PNPLA3 G 0.23 1.79 1.58 2.02 1.70 × 10−20
 rs738408 22 44,324,730 PNPLA3 T 0.23 1.79 1.58 2.02 1.93 × 10−20
 rs3747207 22 44,324,855 PNPLA3 A 0.23 1.78 1.58 2.02 2.63 × 10−20
 rs2294915 22 44,340,904 PNPLA3 T 0.25 1.75 1.55 1.97 1.40 × 10−19
 rs2980888 8 126,507,308 TRIB1 T 0.31 1.36 1.20 1.53 5.98 × 10−07
 rs2954038 8 126,507,389 TRIB1 C 0.31 1.35 1.20 1.52 8.30 × 10−07
NAS score  
 SNP CHR Position Gene Minor allele MAF Beta SE p  
 rs5748926 22 17,649,774 IL17RA T 0.34 0.91 0.16 3.81 × 10−08  
 rs738409 22 44,324,727 PNPLA3 G 0.41 0.85 0.15 3.94 × 10−08  
Fibrosis  
 SNP CHR Position Gene Minor allele MAF Beta SE p  
 rs698718 16 68,560,185 ZFP90-CDH1 A 0.23 0.83 0.12 2.74 × 10−11  
 rs1645976 16 68,563,509 ZFP90-CDH1 T 0.23 0.83 0.12 2.79 × 10−11  
 rs72943235 2 88,500,646 FABP1 A 0.01 2.38 0.43 8.18 × 10−08  
ALT liver enzyme  
 SNP CHR Position Gene Minor allele MAF Beta SE p  
 rs206833 2 31,708,616 XDH A 0.17 0.26 0.05 3.41 × 10−07  
 rs2294915 22 44,340,904 PNPLA3 T 0.34 0.20 0.04 4.04 × 10−07  
 rs738409 22 44,324,727 PNPLA3 G 0.33 0.20 0.04 4.68 × 10−07  
AST liver enzyme  
 SNP CHR Position Gene Minor allele MAF Beta SE p  
 rs10272006 7 21,520,132 SP4 G 0.33 0.25 0.04 5.83 × 10−09  
 rs7796796 7 21,499,857 SP4 A 0.32 0.25 0.04 6.29 × 10− 09  
 rs62141163 2 31,663,114 XDH A 0.11 0.34 0.07 2.30 × 10−07  
  1. Abbreviations: MAF minor allele frequency, OR odds ratio, and 95% confidence interval (CI), Beta change in quantitative case-only phenotypes (NAS score, fibrosis (235 cases), ALT and AST liver enzymes (1075 cases)) per copy of minor allele (direction of beta is for minor alleles, SE standard error of beta; aPosition = GRch37/hg19; bThe direction of all effects is for the minor allele. The minor allele frequency for case-only GWA results is for cases