Table 1.
Ref. | Phenotype associated with | Ancestry of samples included | Genotyping platform | Discovery sample size | Replication sample size | Genes |
Romeo et al[6], 2008 | Increased hepatic fat levels and inflammation | Hispanic, African American and European American individuals | Perlegen Sciences Custom array (12138 NS variation) | 2111 individuals with MRS measured hepatic steatosis | None | PNPLA3 |
Chalasani et al[15], 2010 | Features of hepatic histology | Non-Hispanic white women | Illumina (324,623 SNPs) | 236, non-Hispanic white women | None | FDFT1, rs343062 (Chr 7), COL13A1, rs6591182 (Chr 11), EFCAB4B, rs2499604 (chr 1), PZP, rs1421201 (Chr 18) rs2710833 (Chr 4) |
Speliotes et al[16], 2011 | CT measured hepatic steatosis | European american including Amish | Affymetrix, Illumina | 7126 with CT measured hepatic steatosis | 592/1405 | PNPLA3, NCAN, PPP1R3B, GCKR, LYPLAL1 |
Kawaguchi et al[3], 2012 | NAFLD | Japanese | Illumina | 529 patients consisting of four NAFLD subgroups (Matteoni’s classification) | None | PNPLA3, SAMM50, PARVB, HS3ST1-HSP90AB2P, YIPF1 |
Kitamoto et al[66], 2013 | NAFLD | Japanese | Illumina | 392 NAFLD and 934 controls | 172 NAFLD and 1012 controls | PNPLA3, SAMM50, PARVB gene |
Kozlitina et al[19], 2014 | MRS measured hepatic steatosis | Hispanic, African, American and European | Illumina | 2,736 | None | PNPLA3 and TM6SF2 |
NAFLD: Non-alcoholic fatty liver disease; CT: Computed tomography; SNPs: Single nucleotide polymorphisms; MRS: Magnetic resonance spectroscopy.