Studies | Sample size (n) | Female % | Mean age (SD) | Metabolomics platform | Ancestry | ||
Amino acids (meta-analysis of metabolites GWAS) | |||||||
 Fenland study | 9736 | 53.5% | 48.4 (7.4) | Biocrates p180 Kit | European | ||
 EPIC-Norfolk study | 5841 | 53.3% | 59.8 (9.0) | Metabolon HD4 | |||
 INTERVAL trial | 40,818 | 50.4% | 43.5 (14.2) | Serum NMR platform (Nightingale) and Metabolon HD4 | |||
 GWAS by Shin et al. (2014) | 7824 | 16.5% | 57.1 (11.4) | Metabolon HD1 | |||
 GWAS by Draisma et al. (2015) | 7478 | 53.5% | 48.7 (12.7) | Biocrates p150 Kit | |||
 GWAS by Kettunen et al. (2016) | 24,925 | 53.9% | 46.3 (9.7) | Serum NMR platform (Nightingale) | |||
Studies | Cases | Controls | Â | Â | Inclusion criteria | Exclusion criteria | Â |
MAFLD (studies for discovery analysis) | |||||||
 eMERGE | Adults: 710/paediatrics (≤ 21 years old): 396 | Adults: 7725/paediatrics: 846 | Adults: 54.8%/paediatrics: 44.2% | Adults: 63.5 (16.9)/paediatrics: 13.1 (5.4) | ICD9: 571.5, 571.8 and 571.9; ICD10: K75.81, K76.0 and K76.9 | Alcohol dependence, alcoholic liver disease, alpha-1 antitrypsin deficiency, Alagille syndrome, liver transplant, cystic fibrosis, hepatitis, abetalipoproteinemia, LCAT (lecithin-cholesterol acyltransferase) deficiency, lipodystrophy, disorders of copper metabolism Reye’s syndrome, inborn errors of metabolism, HELLP (hemolysis, elevated liver enzymes and low platelets) syndrome, starvation and acute fatty liver | European |
 UK Biobank | 2558 | 395,241 | NA | NA | ICD10: K74.0, K74.2, K75.8, K76.0 and K76.9 | ||
 Estonian Biobank | 4119 | 190,120 | NA | NA | ICD10: K74.0, K74.2, K75.8, K76.0 and K76.9 | ||
 FinnGen study (data freeze 4) | 651 | 176,248 | 55.5%a | 52.1a | ICD10: K76.0 | NA | |
MAFLD (studies for replication analysis) | |||||||
 GWAS by Anstee et al. (2020) | 1483 | 17,781 | 47.3%a | 50.1 (13.0)a | Liver biopsy | Excess alcohol intake (alcohol intake < 20 g/day for females; < 30 g/day for males), chronic viral hepatitis (hepatitis B and hepatitis C), autoimmune liver diseases, hereditary hemochromatosis, α1-antitrypsin deficiency, Wilson’s disease and drug-induced liver injury | European |