Table 1.
Genome-Wide Association (GWA) and Genome-Wide Exome Studies Identifying Genetic Variants Associated with NAFLD.
| Gene | SNP | Study population | Notable cohort characteristics | Diagnostic modality | NAFLD sample size |
|---|---|---|---|---|---|
| Romeo et al., 200826 | |||||
| PNPLA3 | rs738409 | American | %52 African American, 29% Caucasian, 17% Hispanic | 1H-MRS | 2111 total (controls vs NAFLD not reported) |
| Chalasani et al., 201027 | |||||
| COL13A1 | rs1227756 | American | 100% Caucasian females | Liver biopsy | 236 |
| FDFT1 | rs2645424 | ||||
| Speliotes et al., 201128 | |||||
| GCKR | rs780094 | American & Icelandic | 100% Caucasian Family studies included | CT and/or liver biopsy | 592 |
| LYPLAL1 | rs12137855 | ||||
| NCAN | rs2228603 | ||||
| PNPLA3 | rs738408 | ||||
| Kawaguchi et al., 201229 | |||||
| PNPLA3 | Several (but rs738409 not tested) | Japanese | – | Liver biopsy | 529 |
| Adams et al., 201330 | |||||
| LPPR4 | rs12743824 | Australian | Adolescents at 17 years of age | US | 126 |
| GC | rs222054 | ||||
| LCP1 | rs7324845 | ||||
| SLC38A8 | rs11864146 | ||||
| Kitamoto et al., 201331 | |||||
| PARVB | rs5764455, rs6006611 | Japanese | – | Liver biopsy | 392 |
| PNPLA3 | rs738409, rs2896019, rs3810622 | ||||
| SAMM50 | rs738491, rs2073082, rs3761472, rs2143571 | ||||
| Feitosa et al., 201332 | |||||
| ERLIN1 | rs2862954, rs1408579, rs10883451 | American | 100% Caucasian Family study | CT | 2767 |
| CHUK | rs11597086, rs11591741 | ||||
| CWF19L1 | rs17729876, rs17668255, rs17668357, rs12784396 | ||||
| PNPLA3 | rs738409 | ||||
| PPP1R3B | rs2126259 | ||||
| Kozlitina et al., 201433 | |||||
| TM6SF2 | rs58542926 | American | 48% African American, 32% Caucasian, 17% Hispanic | 1H-MRS | 2735 total [controls vs NAFLD not reported] |
| Shang et al., 201534 | |||||
| COL13A1 | rs1227756 | Chinese | Children aged 7–18 | US | 162 |
| EHBP1L1 | rs6591182 | ||||
| FDFT1 | rs2645424 | ||||
| GCKR | rs7800094 | ||||
| NCAN | rs2228603 | ||||
| PDGFA | rs343064 | ||||
| PNPLA3 | rs738409 | ||||
| DiStefano et al., 201535 | |||||
| PNPLA3 | rs4823173, rs2896019, rs2281135 | American | 100% Caucasian 81% female Subjects undergoing bariatric surgery | Histology from intraoperative liver biopsy | 1386 |
| SUGP1 | rs10401969 | ||||
CHUK, Conserved Helix-Loop Helix Ubiquitous Kinase; COL13A1, Collagen Type XIII, alpha1; CT, Computed Tomography; CWF19L1, CWF19-like Protein 1; EHBP1L1, EH Domain Binding Protein 1-like 1 Gene; ERLIN1, ER Lipid Raft Associated 1; FDFT1, Farnesyl Diphosphate Farnesyl Transferase 1; GC, Group-specific Component; GCKR, Glucokinase Regulator; 1H-MRS, Proton Magnetic Resonance Spectroscopy; LCP1, Lymphocyte Cytosolic Protein-1; LPPR4, Lipid Phosphate Phosphatase-Related Protein Type 4; LYPLAL1, Lysophospholipase-like 1; NCAN, Neurocan; PARVB, Parvin, Beta; PDGFA, Platelet-derived Growth Factor Alpha Polypeptide; PNPLA3, Patatin-like Phospholipase Domain Containing 3; PPP1R3B, Protein Phosphatase 1 Regulatory Subunit 3B; SAMM50, Sorting and Assembly Machinery Component 50; SLC38A8, Solute Carrier Family 38 Member 8; SUGP1, SURP and G Patch Domain Containing 1; TM6SF2, Transmembrane 6 Superfamily Member 2; US, Ultrasonography.