Thematic Review Series: Genetics of Human Lipid Diseases Genetic determinants of hepatic steatosis in man

被引:108
作者
Hooper, Amanda J. [1 ,2 ,3 ]
Adams, Leon A. [2 ,4 ]
Burnett, John R. [1 ,2 ,3 ]
机构
[1] Royal Perth Hosp, Dept Core Clin Pathol & Biochem, Perth, WA, Australia
[2] Univ Western Australia, Sch Med & Pharmacol, Perth, WA 6009, Australia
[3] Univ Western Australia, Sch Pathol & Lab Med, Perth, WA 6009, Australia
[4] Sir Charles Gairdner Hosp, Dept Gastroenterol & Hepatol, Perth, WA, Australia
基金
英国医学研究理事会;
关键词
alcoholic fatty liver disease; cirrhosis; fibrosis; genetic factors; gene variants; nonalcoholic fatty liver disease; nonalcoholic steatohepatitis; single nucleotide polymorphisms; susceptibility; FATTY LIVER-DISEASE; TRIGLYCERIDE TRANSFER PROTEIN; ESTER STORAGE DISEASE; LYSOSOMAL ACID LIPASE; NECROSIS-FACTOR-ALPHA; PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE; CONGENITAL GENERALIZED LIPODYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; ASPARTATE-GLUTAMATE CARRIER; APO-B GENE;
D O I
10.1194/jlr.R008896
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Hepatic steatosis is one of the most common liver disorders in the general population. The main cause of hepatic steatosis is nonalcoholic fatty liver disease (NAFLD), representing the hepatic component of the metabolic syndrome, which is characterized by type 2 diabetes, obesity, and dyslipidemia. Insulin resistance and excess adiposity are considered to play key roles in the pathogenesis of NAFLD. Although the risk factors for NAFLD are well established, the genetic basis of hepatic steatosis is largely unknown.jlr Here we review recent progress on genomic variants and their association with hepatic steatosis and discuss the potential impact of these genetic studies on clinical practice. Identifying the genetic determinants of hepatic steatosis will lead to a better understanding of the pathogenesis and progression of NAFLD.-Hooper, A. J., L. A. Adams, and J. R. Burnett. Genetic determinants of hepatic steatosis in man. J. Lipid Res. 2011. 52: 593-617.
引用
收藏
页码:593 / 617
页数:25
相关论文
共 286 条
[1]   The natural history of nonalcoholic fatty liver disease: A population-based cohort study [J].
Adams, LA ;
Lymp, JF ;
St Sauver, J ;
Sanderson, SO ;
Lindor, KD ;
Feldstein, A ;
Angulo, P .
GASTROENTEROLOGY, 2005, 129 (01) :113-121
[2]   Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C [J].
Adinolfi, LE ;
Ingrosso, D ;
Cesaro, G ;
Cimmino, A ;
D'Antò, M ;
Capasso, R ;
Zappia, V ;
Ruggiero, G .
HEPATOLOGY, 2005, 41 (05) :995-1003
[3]   Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways [J].
Agarwal, AK ;
Garg, A .
TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2003, 14 (05) :214-221
[4]   AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34 [J].
Agarwal, AK ;
Arioglu, E ;
de Almeida, S ;
Akkoc, N ;
Taylor, SI ;
Bowcock, AM ;
Barnes, RI ;
Garg, A .
NATURE GENETICS, 2002, 31 (01) :21-23
[5]   Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy [J].
Akiyama, Masashi ;
Sakai, Kaori ;
Ogawa, Masaya ;
McMillan, James R. ;
Sawamura, Daisuke ;
Shimizu, Hiroshi .
MUSCLE & NERVE, 2007, 36 (06) :856-859
[6]   Modulation of the hepatic malonyl-CoA-carnitine palmitoyltransferase 1A partnership creates a metabolic switch allowing oxidation of de novo fatty acids [J].
Akkaoui, Marie ;
Cohen, Isabelle ;
Esnous, Catherine ;
Lenoir, Veronique ;
Sournac, Martin ;
Girard, Jean ;
Prip-Buus, Carina .
BIOCHEMICAL JOURNAL, 2009, 420 :429-438
[7]   Nuclear receptors, mitochondria and lipid metabolism [J].
Alaynick, William A. .
MITOCHONDRION, 2008, 8 (04) :329-337
[8]   Dissociation Between Intrahepatic Triglyceride Content and Insulin Resistance in Familial Hypobetalipoproteinemia [J].
Amaro, Anastassia ;
Fabbrini, Elisa ;
Kars, Marleen ;
Yue, Pin ;
Schechtman, Kenneth ;
Schonfeld, Gustav ;
Klein, Samuel .
GASTROENTEROLOGY, 2010, 139 (01) :149-153
[9]   Nonalcoholic fatty liver disease [J].
Brunt, Elizabeth M. ;
Wong, Vincent W. -S. ;
Nobili, Valerio ;
Day, Christopher P. ;
Sookoian, Silvia ;
Maher, Jacquelyn J. ;
Bugianesi, Elisabetta ;
Sirlin, Claude B. ;
Neuschwander-Tetri, BrentA. ;
Rinella, Mary E. .
NATURE REVIEWS DISEASE PRIMERS, 2015, 1
[10]   Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity [J].
Aslanidis, C ;
Ries, S ;
Fehringer, P ;
Buchler, C ;
Klima, H ;
Schmitz, G .
GENOMICS, 1996, 33 (01) :85-93