Supplementary Table 1 | Current gene variants identified in human NAFLD and NASH
Study / Gene / Gene name / Association
Romeo et al. 2008S1 / PNPLA3 / Patatin-like phospholipase domain-containing3 / MRI measured steatosis
Chalasani et al. 2010S2 / FDFT1 / Farnesyl-diphosphate farnesyltransferase1 / Histological NASH activity score
COL13A1 / Collagen, type XIII, α1 / Histological lobular inflammation
EFCAB4B / EF-hand calcium binding domain 4B / Histological lobular inflammation
PZP / Pregnancy zone protein / Serum ALT levels
Speliotes et al. 2011S3 / PNPLA3 / Patatin-like phospholipase domain-containing3 / CT measured steatosis and histological NAFLD
NCAN / Neurocan / CT measured steatosis and histological NAFLD
PPP1R3B / Protein phosphatase1, regulatory subunit3B / CT measured steatosis
GCKR / Glucokinase (hexokinase4) regulator / Histological NAFLD
LYPLAL1 / Lysophospholipase-like1 / Histological NAFLD
Kawaguchi et al. 2012S4 / PNPLA3 / Patatin-like phospholipase domain-containing3 / Histological NAFLD
Adams et al. 2013S5 / GC / Group-specific component (vitaminD binding protein) / NAFLD (ultrasonography)
LCP1 / Lymphocyte cytosolic protein1 (L-plastin) / NAFLD (ultrasonography)
LPPR4 / lipid phosphate phosphatase-related protein type4 / NAFLD (ultrasonography)
SLC38A8 / Solute carrier family38 member8 / NAFLD (ultrasonography)
Kitamoto et al. 2013S6 / PNPLA3 / Patatin-like phospholipase domain-containing3 / Serum ALT and AST levels
SAMM50 / Sorting and assembly machinery component50 / Serum ALT and AST levels
PARVB / Parvin, β / Serum ALT and AST levels
Gorden et al. 2013S7 / PNPLA3 / Patatin-like phospholipase domain-containing3 / Histological steatosis, inflammation, fibrosis (morbid obesity)
NCAN / Neurocan / Histological steatosis (morbid obesity)
Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase.

S1. Romeo, S. etal. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat. Genet. 40, 1461–1465 (2008).

S2. Chalasani, N. etal. Genome-wide association study identifies variants associated with histologic features of nonalcoholic fatty liver disease. Gastroenterology 139, 1567–1576 (2010).

S3. Speliotes, E.K. etal. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet. 7, e1001324 (2011).

S4. Kawaguchi, T. etal. Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. PLoS ONE 7, e38322 (2012).

S5. Adams, L.A. etal. Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. Hepatology 57, 590–600 (2013).

S6. Kitamoto, T. etal. Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. Hum. Genet. 132, 783–792 (2013).

S7. Gorden, A. etal. Genetic variation at NCAN Locus is associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesity. Hum. Hered. 75, 34–43 (2013).