中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Issue 12
Dec.  2013
Turn off MathJax
Article Contents

Research advances in gene polymorphisms in nonalcoholic fatty liver disease

DOI: 10.3969/j.issn.1001-5256.2013.12.020
Research funding:

 

  • Received Date: 2013-05-13
  • Published Date: 2013-12-20
  • The incidence of non-alcoholic fatty liver disease ( NAFLD) is rising worldwide. Investigation of genes involved in the pathogenesis of NAFLD is significant for improving treatment regimen and prognosis. Differences in prevalence of NAFLD between races suggest genetic contribution in this disease. PNPLA3 and apoC-III genes, which have become research hotspots in recent years, play important roles in the regulation of lipid metabolism. Studies have established an association of PNPLA3 gene variant ( rs738409[G], encoding I148M) and two single nucleotide polymorphisms (-455T > C [rs2854116]and-482C > T [rs285417]) in the insulin response element in the apoC-III promoter region with NAFLD. The previous research achievements are summarized to conclude that PNPLA3 can be used as an independent predictor of the incidence of NAFLD. However, no consensus has been reached regarding apoC-III among the studies worldwide, and the relevant research in China is still in the primary stage. New ideas are explored for future research on the pathogenesis of NAFLD.

     

  • loading
  • [1]CHALASANI N, YOUNOSSI Z, LAVINE JE, et al.The diagnosis and management of non-alcoholic fatty liver disease:practice Guideline by the American Association for the Study of Liver Diseases, American College of Gastroenterology, and the American Gastroenterological Association[J].Hepatology, 2012, 55 (6) :2005-2023.
    [2]BROWNING JD, SZCZEPANIAK LS, DOBBINS R, et al.Prevalence of hepatic steatosis in an urban population in the United States:impact of ethnicity[J].Hepatology, 2004, 40 (6) :1387-1395.
    [3]SCHWIMMER JB, CELEDON MA, LAVINE JE, et al.Heritability of nonalcoholic fatty liver disease[J].Gastroenterology, 2009, 136 (5) :1585-1592.
    [4]MALHI H, GORES GJ.Molecular mechanisms of lipotoxicity in nonalcoholic fatty liver disease[J].Semin Liver Dis, 2008, 28 (4) :360-369.
    [5]BOPPIDI H, DARAM SR.Nonalcoholic fatty liver disease:hepatic man-ifestation of obesity and the metabolic syndrome[J].Postgrad Med, 2008, 120 (2) :e1-e7.
    [6]PONIACHIK J, MANCILLA C, CONTRERAS J, et al.Obesity:risk factor for steatohepatitis and hepatic fibrosis[J].Rev Med Chil, 2002, 130 (5) :731-736.
    [7]DUAN XY, FAN JG.Nonalcoholic fatty liver disease (NAFLD) :summary of the 2011 conference of the Asia Pacific Association for the Study of the Liver (APASL) [J].J Clin Hepatol, 2011, 27 (5) :458-461, 470. (in Chinese) 段晓燕, 范建高.2011亚太肝病学会非酒精性脂肪性肝病纪要[J].临床肝胆病杂志, 2011, 27 (5) :458-461, 470.
    [8]BAULANDE S, LASNIER F, LUCAS M, et al.A transmembrane protein corresponding to a novel dietary-and obesity-linked mRNA specifi-cally expressed in the adipose lineage[J].J Biol Chem, 2001, 276 (36) :33336-33344.
    [9]ROMEO S, HUANG-DORAN I, BARONI MG, et al.Unravelling the pathogenesis of fatty liver disease;patatin-like phospholipase domain-containing 3 protein[J].Curr Opin Lipdol, 2010, 21 (3) :247-252.
    [10]ROMEO S, KOZLITINA J, XING C, et al.Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease[J].Nat Genet, 2008, 40 (12) :1461-1465.
    [11]LI Q, QU HQ, RENTFRO AR, et al.PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population[J].Clin Invest Med, 2012, 35 (4) :e237-e245.
    [12]REMEO S, SENTINELLI F, DASH S, et al.Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent[J].Int J Obes (Lond) , 2010, 34 (1) :190-194.
    [13]WAGENKNECHT LE, PALMER ND, BOWDEN DW, et al.Association of PNPLA3 with nonalcoholic fatty liver disease in a minority cohort:the insulin Resistance Atherosclerosis Family Study[J].Liver Int, 2011, 31 (3) :412-416.
    [14]HOTTA K, YONEDA M, HYOGO H, et al.Association of the rs738409 polymorphism in PNPLA3 with iver damage and the development of nonalcoholic fatty liver disease[J].BMC Med Genet, 2010, 11:172.
    [15]ZHOU YJ, LI YY, NIE YQ, et al.Influence of polygenetic polymorphisms on the susceptibility to non-alcoholic fatty liver disease of Chinese people[J].J Gastroenterol Hepatol, 2010, 25 (4) :772-777.
    [16]LIN YC, CHANG PF, HU FC, et al.A common variant in the PNPLA3 gene is a risk factor for non-alcoholic fatty liver disease in obese Taiwanese children[J].J Pediatr, 2011, 158 (5) :740-744.
    [17]LI Y, XING C, TIAN Z, et al.Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population[J].BMC Med Genet, 2012, 13 (1) :113.
    [18]LI Y, XING C, COHEN JC, et al.Genetic variant in PNPLA3 is associated with nonalcoholic fatty liver disease in China[J].Hepatology, 2012, 55 (1) :327-328.
    [19]SOOKOIAN S, PIROLA CJ.Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease[J].Hepatology, 2011, 53 (6) :1883-1894.
    [20]VELENTI L, AL-SERRI A, DALY AK, et al.Homozygosity for the PNPLA3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease[J].Hepatology, 2010, 51 (4) :1209-1217.
    [21]SPELIOTES EK, YERGES-ARMSTRONG LM, WU J, et al.Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits[J].PLoS Genet, 2011, 7 (3) :e1001324.
    [22]GUICHELAAR M, GAWRIEH S, OLIVIER M, et al.Interactions of allelic variance of PNPLA3 with non genetic factors in predicting NASH and non-hepatic complications of severe obesity[J].Obesity (Silver Spring) , 2013.[Epub ahead of print]
    [23]KANTARTZIS K, PETER A, MACHICAO F, et al.Dissociation between fatty liver and insulin resis tance in humans carrying a variant of the patatin-like phospholipase 3 gene[J].Diabetes, 2009, 58 (11) :2616-2623.
    [24]CHAMOUN Z, VACCA F, PARTON RG, et al.PNPLA3/adiponutrin functions in lipid droplet formation[J].Biol Cell, 2013, 105 (5) :219-233.
    [25]YAO Z.Human Apolipoprotein C-III-A New Intrahepatic Protein Factor Promoting Assembly and Secretion of Very Low Density Lipoproteins[J].Cardiovasc Hematol Disord Drug Targets, 2012, 12 (2) :133-140.
    [26]MILLER M, RHYNE J, CHEN H, et al.APOCIII promoter polymorphisms C–482T and T–455C are associated with the metabolic syndrome Arch[J].Arch Med Res, 2007, 38 (4) :444-451.
    [27]GUETTIER JM, GEORGOPOULOS A, TSAI MY, et al.Polymorphisms in the fatty acid-binding protein 2 and apolipoprotein CIII genes are associated with the metabolic syndrome and dyslipidemia in a South Indian population[J].J Clin Endocrinol Metab, 2005, 90 (3) :1705-1711.
    [28]van DIJK KW, RENSEN PC, VOSHOL PJ, et al.The role and mode of action of apolipoproteins CIII and AV:synergistic actors in triglyceride metabolism?[J].Curr Opin Lipidol, 2004, 15 (3) :239-246.
    [29]ABD-EL-AZIZ TA, MOHAMED RH, EL-SHAL AS.Synergistic effect between lipoprotein lipase and apolipoprotein C3 genes in determining the severity of coronary artery disease[J].J Cardiovasc Transl Res, 2013, 6 (3) :430-435.
    [30]PETERSEN KF, DUFOUR S, HARIRI A, et al.Apolipoprotein C3gene variants in nonalcoholic fatty liver disease[J].N Engl J Med, 2010, 362 (12) :1082-1089.
    [31]KOZLITINA J, BOERWINKLE E, COHEN JC, et al.Dissociation between APOCIII variants, hepatic triglyceride content and insulin resistance[J].Hepatology, 2011, 53 (2) :467-474.
    [32]SENTINELLI F, ROMEO S, MAGLIO C, et al.Lack of effect of apolipoprotein C3 polymorphisms on in dices of liver steatosis, lipid profile and insulin resistance in obese Southern Europeans[J].Lipids Health Dis, 2011, 10 (10) :93.
    [33]VALENTI L, NOBILI V, AL-SERRI A, et al.The APOCIII T-455C and C-482T promoter region polymorphisms are not associated with the severity of liver damage independently of PNPLA3I148M genotype in patients with nonalcoholic fatty liver[J].J Hepatol, 2011, 55 (6) :1409-1414.
    [34]ROMERO-GMEZ M.APOC3 polymorphisms and non-alcoholic fatty liverdisease:Resolving some doubts and raising others[J].J Hepatol, 2011, 55 (6) :1184-1186.
    [35]OLIVIERI O, MARTINELLI N, SANDRI M, et al.Apolipoprotein C-III, n-3 polyunsaturated fatty acids, and“insulin-resistant”T-455C APOC3 gene polymorphism in heart disease patients:example of gene–diet interaction[J].Clin Chem, 2005, 51 (2) :360-367.
    [36]LI WW, DAMMERMAN MM, SMITH JD, et al.Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyc-eridemia[J].J Clin Invest, 1995, 96 (6) :2601-2605.
    [37]RUSSO GT, MEIGS JB, CUPPLES LA, et al.Association of the Sst-I polymorphism at the APOC3 gene locus with variations in lipid levels, lipoprotein subclass profiles and coronary heart disease risk:the Framingham offspring study[J].Atherosclerosis, 2001, 158 (1) :173-181.
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (2682) PDF downloads(593) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return