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. Author manuscript; available in PMC: 2011 Dec 2.
Published in final edited form as: Science. 2011 Jun 24;332(6037):1519–1523. doi: 10.1126/science.1204265

Table 1.

Common variants associated with nonalcholic fatty liver disease. Odds ratios for NAFLD were calculated by using cases with biopsy-proven NAFLD and in ancestry-matched controls (6). EA, European American; AA, African American; ND, not determined.

Gene (first report) Protein Function Allele
variant
Minor allele
frequency
Steatosis NASH Odds
ratio
NASH
Associations
with other
liver disorders
PNPLA3 (5) Patatin-like phospholipase domain–containing protein 3 TG hydrolase? rs738409 I148M 0.23 in EA 0.49 in Hispanics 0.17 in AA Yes Yes 3.26 Alcohol-related cirrhosis
Hepatocellular carcinoma
PPP1R3B (6) Glycogen binding subunit of protein phosphatase 1 Enhances protein phosphatase 1 activation of glycogen synthase rs4240624 0.08 Yes No 0.93 ND
NCAN (6) Neurocan Unknown rs2228603 P92S 0.07 Yes Yes 1.65 ND
GCKR (6) Glucokinase regulatory protein Negative regulator of glucokinase rs780094 P446L 0.39 No Yes (not replicated) 1.45 ND
LYPLAL1 (6) Lysophospholipase-like 1 Unknown rs12137855 0.21 No Yes (not replicated) 1.37 ND
APOC3 (25) Apolipoprotein C3 Limits hydrolysis of TG in circulating lipoproteins rs2854116 rs2854117 0.38 in EA 0.38 in Hispanics 0.71 in AA 0.26 in EA 0.32 in Hispanics 0.66 in AA Yes* ND ND ND
*

The association was found in Asian-Indian men and replicated in a group of mixed ethnicity (25). The association was not observed in (26, 27).