PNPLA3 gene-by-visceral adipose tissue volume interaction and the pathogenesis of fatty liver disease: The NHLBI Family Heart Study (original) (raw)

• Kotronen A, Johansson LE, Johansson LM, Roos C, Westerbacka J, Hamsten A et al. A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. Diabetologia 2009; 52: 1056–1060.
  Article CAS Google Scholar
• Kotronen A, Vehkavaara S, Seppala-Lindroos A, Bergholm R, Yki-Jarvinen H . Effect of liver fat on insulin clearance. Am J Physiol Endocrinol Metab 2007; 293: E1709–E1715.
  Article CAS Google Scholar
• Brunt EM . Pathology of nonalcoholic fatty liver disease. Nat Rev Gastroenterol Hepatol 2010; 7: 195–203.
  Article Google Scholar
• Byrne CD . Fatty liver: role of inflammation and fatty acid nutrition. Prostaglandins Leukot Essent Fatty Acids 2010; 82: 265–271.
  Article CAS Google Scholar
• Lewis JR, Mohanty SR . Nonalcoholic fatty liver disease: a review and update. Dig Dis Sci 2010; 55: 560–578.
  Article Google Scholar
• Marchesini G, Brizi M, Morselli-Labate AM, Bianchi G, Bugianesi E, McCullough AJ . Association of nonalcoholic fatty liver disease with insulin resistance. Am J Med 1999; 107: 450–455.
  Article CAS Google Scholar
• Sanyal AJ . Nonalcoholic fatty liver disease in the Indian subcontinent: a medical consequence of globalization? Indian J Gastroenterol 2001; 20: 215–216.
  CAS PubMed Google Scholar
• Seppala-Lindroos A, Vehkavaara S, Hakkinen AM, Goto T, Westerbacka J, Sovijarvi A et al. Fat accumulation in the liver is associated with defects in insulin suppression of glucose production and serum free fatty acids independent of obesity in normal men. J Clin Endocrinol Metab 2002; 87: 3023–3028.
  Article CAS Google Scholar
• Tiniakos DG, Vos MB, Brunt EM . Nonalcoholic fatty liver disease: pathology and pathogenesis. Annu Rev Pathol 2010; 5: 145–171.
  Article CAS Google Scholar
• Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008; 40: 1461–1465.
  Article CAS Google Scholar
• Stickel F, Buch S, Lau K, zu Schwabedissen HM, Berg T, Ridinger M et al. Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology 2011; 53: 86–95.
  Article CAS Google Scholar
• Wagenknecht LE, Palmer ND, Bowden DW, Rotter JI, Norris JM, Ziegler J et al. Association of PNPLA3 with non-alcoholic fatty liver disease in a minority cohort: the Insulin Resistance Atherosclerosis Family Study. Liver Int 2011; 31: 412–416.
  Article CAS Google Scholar
• Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD et al. Genome-wide association analysis identifies variants associated with nonalcoholic Fatty liver disease that have distinct effects on metabolic traits. PLoS Genet 2011; 7: e1001324.
  Article CAS Google Scholar
• Guerrero R, Vega GL, Grundy SM, Browning JD . Ethnic differences in hepatic steatosis: an insulin resistance paradox? Hepatology 2009; 49: 791–801.
  Article Google Scholar
• He S, McPhaul C, Li JZ, Garuti R, Kinch L, Grishin NV et al. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem 2010; 285: 6706–6715.
  Article CAS Google Scholar
• Hoekstra M, Li Z, Kruijt JK, Van Eck M, Van Berkel TJ, Kuiper J . The expression level of non-alcoholic fatty liver disease-related gene PNPLA3 in hepatocytes is highly influenced by hepatic lipid status. J Hepatol 2010; 52: 244–251.
  Article CAS Google Scholar
• Davis JN, Le KA, Walker RW, Vikman S, Spruijt-Metz D, Weigensberg MJ et al. Increased hepatic fat in overweight Hispanic youth influenced by interaction between genetic variation in PNPLA3 and high dietary carbohydrate and sugar consumption. Am J Clin Nutr 2010; 92: 1522–1527.
  Article CAS Google Scholar
• Fan JG, Saibara T, Chitturi S, Kim BI, Sung JJ, Chutaputti A et al. What are the risk factors and settings for non-alcoholic fatty liver disease in Asia-Pacific? J Gastroenterol Hepatol 2007; 22: 794–800.
  Article Google Scholar
• Fan JG, Farrell GC . VAT fat is bad for the liver, SAT fat is not!. J Gastroenterol Hepatol 2008; 23: 829–832.
  Article Google Scholar
• Hamdy O, Porramatikul S, Al-Ozairi E . Metabolic obesity: the paradox between visceral and subcutaneous fat. Curr Diabetes Rev 2006; 2: 367–373.
  Article Google Scholar
• North KE, Graff M, Franceschini N, Reiner AP, Feitosa MF, Carr JJ et al. Sex and race differences in the prevalence of fatty liver disease as measured by computed tomography liver attenuation in European American and African American participants of the NHLBI family heart study. Eur J Gastroenterol Hepatol 2012; 24: 9–16.
  Article Google Scholar
• Higgins M, Province M, Heiss G, Eckfeldt J, Ellison RC, Folsom AR et al. NHLBI Family Heart Study: objectives and design. Am J Epidemiol 1996; 143: 1219–1228.
  Article CAS Google Scholar
• Carr JJ, Nelson JC, Wong ND, McNitt-Gray M, Arad Y, Jacobs DR et al. Calcified coronary artery plaque measurement with cardiac CT in population-based studies: standardized protocol of Multi-Ethnic Study of Atherosclerosis (MESA) and Coronary Artery Risk Development in Young Adults (CARDIA) study. Radiology 2005; 234: 35–43.
  Article Google Scholar
• Sookoian S, Castano GO, Burgueno AL, Gianotti TF, Rosselli MS, Pirola CJ . A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res 2009; 50: 2111–2116.
  Article CAS Google Scholar
• Farrell GC, Chitturi S, Lau GK, Sollano JD . Asia-Pacific Working Party on, N. Guidelines for the assessment and management of non-alcoholic fatty liver disease in the Asia-Pacific region: executive summary. J Gastroenterol Hepatol 2007; 22: 775–777.
  Article Google Scholar
• Kodama Y, Ng CS, Wu TT, Ayers GD, Curley SA, Abdalla EK et al. Comparison of CT methods for determining the fat content of the liver. AJR Am J Roentgenol 2007; 188: 1307–1312.
  Article Google Scholar
• Yoshizumi T, Nakamura T, Yamane M, Islam AH, Menju M, Yamasaki K et al. Abdominal fat: standardized technique for measurement at CT. Radiology 1999; 211: 283–286.
  Article CAS Google Scholar
• Center for Information Technology. MIPAV (Medical Image Processing, Analysis, and Visualization), vol. 2011. National Institutes of Health: Bethesda, 2007.
• Wheeler GL, Shi R, Beck SR, Langefeld CD, Lenchik L, Wagenknecht LE et al. Pericardial and visceral adipose tissues measured volumetrically with computed tomography are highly associated in type 2 diabetic families. Invest Radiol 2005; 40: 97–101.
  Article Google Scholar
• Warnick GR, Mayfield C, Benderson J, Chen JS, Albers JJ . HDL cholesterol quantitation by phosphotungstate-Mg2+ and by dextran sulfate-Mn2+-polyethylene glycol precipitation, both with enzymic cholesterol assay compared with the lipid research method. Am J Clin Pathol 1982; 78: 718–723.
  Article CAS Google Scholar
• Kraja AT, Hunt SC, Rao DC, Davila-Roman VG, Arnett DK, Province MA . Genetics of hypertension and cardiovascular disease and their interconnected pathways: lessons from large studies. Curr Hypertens Rep 2011; 13: 46–54.
  Article Google Scholar
• Heath SC . Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet 1997; 61: 748–760.
  Article CAS Google Scholar
• Abecasis GR, Cherny SS, Cookson WO, Cardon LR . GRR: graphical representation of relationship errors. Bioinformatics 2001; 17: 742–743.
  Article CAS Google Scholar
• Huang Y, He S, Li JZ, Seo YK, Osborne TF, Cohen JC et al. A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc Natl Acad Sci USA 2010; 107: 7892–7897.
  Article CAS Google Scholar
• Larter CZ, Chitturi S, Heydet D, Farrell GC . A fresh look at NASH pathogenesis. Part 1: the metabolic movers. J Gastroenterol Hepatol 2010; 25: 672–690.
  Article CAS Google Scholar
• Farrell GC . PNPLeAse get the fats right: Does lipogenesis or lipolysis cause NASH? Hepatology 2011; 52: 819–821.
  Google Scholar
• Gan SK, Kriketos AD, Poynten AM, Furler SM, Thompson CH, Kraegen EW et al. Insulin action, regional fat, and myocyte lipid: altered relationships with increased adiposity. Obes Res 2003; 11: 1295–1305.
  Article CAS Google Scholar
• Kim JY, van de Wall E, Laplante M, Azzara A, Trujillo ME, Hofmann SM et al. Obesity-associated improvements in metabolic profile through expansion of adipose tissue. J Clin Invest 2007; 117: 2621–2637.
  Article CAS Google Scholar
• Demerath EW, Sun SS, Rogers N, Lee M, Reed D, Choh AC et al. Anatomical patterning of visceral adipose tissue: race, sex, and age variation. Obesity 2007; 15: 2984–2993.
  Article Google Scholar
• Shen W, Punyanitya M, Wang Z, Gallagher D, St-Onge MP, Albu J et al. Visceral adipose tissue: relations between single-slice areas and total volume. Am J Clin Nutr 2004; 80: 271–278.
  Article CAS Google Scholar
• Demerath EW, Reed D, Rogers N, Sun SS, Lee M, Choh AC et al. Visceral adiposity and its anatomical distribution as predictors of the metabolic syndrome and cardiometabolic risk factor levels. Am J Clin Nutr 2008; 88: 1263–1271.
  CAS PubMed PubMed Central Google Scholar