Genetic variants in the PNPLA3 gene are associated with nonalcoholic steatohepatitis

Genetic Testing and Molecular Biomarkers

Volumn 18, Issue 7, 2014, Pages 489-496

  Islek, Eylul Ece ^a   Sazci, Ali ^a   Ozel, Mavi Deniz ^a   Aygun, Cem ^a  

^a KOCAELI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

PATATIN LIKE PHOSPHOLIPASE DOMAIN CONTAINING PROTEIN 3; PROTEIN; UNCLASSIFIED DRUG; ADIPONUTRIN, HUMAN; GENETIC MARKER; MEMBRANE PROTEIN; TRIACYLGLYCEROL LIPASE;

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NONALCOHOLIC FATTY LIVER; PNPLA3 GENE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; CASE CONTROL STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; TURKEY;

CASE-CONTROL STUDIES; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LIPASE; MEMBRANE PROTEINS; NON-ALCOHOLIC FATTY LIVER DISEASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TURKEY;

EID: 84904278540     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2014.0019     Document Type: Article

References (49)

1. Basantani MK, Sitnick MT, Cai L, et al. (2011) Pnpla3/adipo-nutrin deficiency in mice does not contribute to fatty liver disease or metabolic syndrome. J Lipid Res 52:318-329.
2. Baulande S, Lasnier F, Lucas M, Pairault J (2001) Adiponutrin, a transmembrane protein corresponding to a novel dietary-and obesity-linked mRNA specifically expressed in the adipose lineage. J Biol Chem 276:33336-33344.
3. Brunt EM, Janney CG, Di Bisceglie AM, et al. (1999) Nonalcoholic steatohepatitis: a proposal for grading and staging the histological lesions. Am J Gastroenterol 94:2467-2474. (Pubitemid 29420675)
4. Chalasani N, Guo X, Loomba R, et al. (2010) Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Gastroenterology 139:1567-1576.
5. Chen W, Chang B, Li L, Chan L (2010) Patatin-like phospho-lipase domain-containing 3/adiponutrin deficiency in mice is not associated with fatty liver disease. Hepatology 52:1134-1142.
6. Dentin R, Benhamed F, Hainault I, et al. (2006) Liver specific inhibition of ChREBP improves hepatic steatosis and insulin resistance in ob/ob mice. Diabetes 55:2159-2170. (Pubitemid 44743612)
7. Desgrosellier JS, Cheresh DA (2010) Integrins in cancer: biological implications and therapeutic opportunities. Nat Rev Cancer 10:9-22.
8. Donnelly KL, Smith CI, Schwarzenberg SJ, et al. (2005) Sources of fatty acids stored in liver and secreted via lipo-proteins in patientswith nonalcoholic fatty liver disease. J Clin Invest 115:1343-1351. (Pubitemid 40629054)
9. Erickson SK (2006) Nonalcoholic fatty liver disease. J Lipid Res 50:S412-S416.
10. Fere P, Foufelle F (2007) SREBP-1c transcription factor and lipid homeostasis: clinical perspective. Horm Res 68: 72-82. (Pubitemid 47026704)
11. Guyot E, Sutton A, Rufat P, et al. (2013) PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis. J Hepatol 58:312-318.
12. Harrison SA, Neuschwander-Tetri BA (2004) Nonalcoholic fatty liver disease and nonalcoholic steatohepatitis. Clin Liver Dis 8:861-879. (Pubitemid 39311147)
13. Hotta K, Yoneda M, Hyogo H, et al. (2010) Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease. BMC Med Genet 11:172-182.
14. Ishii S, Iizuka K, Miller BC, Uyeda K (2004) Carbohydrate response element bindingprotein directly promotes lipogenic enzyme gene transcription. Proc Natl Acad Sci USA 101:15597-15602. (Pubitemid 39473533)
15. Jenkins CM, Mancuso DJ, Yan W, et al. (2004) Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacy-lase activities. J Biol Chem 279:48968-48975. (Pubitemid 39625778)
16. Kawaguchi T, Sumida Y, Umemura A, et al. (2012) Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. PLoS One 7:e38322.
17. Kimura M, Murakami T, Kizaka-Kondoh S, et al. (2010) Functional molecular imaging of ILK-mediated Akt/PKB signaling cascades and the associated role of beta-parvin. J Cell Sci 123:747-755.
18. Kitamoto T, Kitamoto A, Yoneda M, et al. (2013) Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. Hum Genet 132:783-792.
19. Kleiner DE, Brunt EM (2012) Nonalcoholic fatty liver disease: pathologic patterns and biopsy evaluation in clinical research. Semin Liver Dis 32:3-13.
20. Kotronen A, Johansson LE, Johansson LM, et al. (2009) A common variant in PNPLA3, which encodes adiponutrin, isassociated with liver fat content in humans. Diabetologia 52:1056-1060.
21. Lake AC, SunY, Li JL, et al. (2005) Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members. J Lipid Res 46:2477-2487. (Pubitemid 41532536)
22. Larrieta-Carrasco E, León-Mimila P, Villarreal-Molina T, et al. (2013) Association of the I148M/PNPLA3 variant with elevated alanine transaminase levels in normal-weight and overweight/obese Mexican children. Gene 520:185-188.
23. Li JZ, Huang Y, Karaman R, et al. (2012) Chronic over-expression of PNPLA3I148 M in mouse liver causes hepatic steatosis. J Clin Invest 122:4130-4144.
24. Ludwig J, Viggiano TR, McGill DB, Oh BJ (1980) Nonalcoholic steatohepatitis: Mayo Clinic experiences with a hitherto unnamed disease. Mayo Clin Proc 55:434-438. (Pubitemid 10057164)
25. Ma L, Tsatsos NG, Towle HC (2005) Direct role of ChREBP Mlx in regulating hepaticglucose-responsive genes. J Biol Chem 280:12019-12027. (Pubitemid 40418520)
26. Matteoni CA, Younossi ZM, Gramlich T, et al. (1999) Nonalcoholic fatty liver disease: a spectrum of clinical and pathological severity. Gastroenterology 116:1413-1419. (Pubitemid 29258890)
27. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
28. Patsenker E, Stickel F (2011) Role of integrins in fibrosing liver diseases. Am J Physiol Gastrointest Liver Physiol 301:G425-G434.
29. Peng XE, Wu YL, Lin SW, et al. (2012) Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population. PLoS One 7:e50256.
30. Postic C, Dentin R, Denechaud PD, Girard J (2007) ChREBP, a transcriptional regulator of glucose and lipid metabolism. Annu Rev Nutr 27:179-192. (Pubitemid 351373354)
31. Postic C, Girard J (2008) Contribution of de novo fatty acid synthesis to hepaticsteatosis and insulin resistance: lessons from genetically engineered mice. J Clin Invest 118:829-838. (Pubitemid 351364588)
32. Romeo S, Kozlitina J, Xing C, et al. (2008) Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 40:1461-1465.
33. Romeo S, Sentinelli F, Cambuli VM, et al. (2010) The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life. J Hepatol 53:335-338.
34. Rotman Y, Koh C, Zmuda JM, et al. (2010) The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease. Hepatology 52:894-903.
35. Sazci A, Akpinar G, Aygun C, et al. (2008a) Association of apolipoprotein E polymorphisms in patients with nonalcoholic steatohepatitis. Dig Dis Sci 53:3218-3224.
36. Sazci A, Ergul E, Aygun C, et al. (2008b) Methylenetetrahy-drofolate reductase gene polymorphisms in patients with nonalcoholic steatohepatitis (NASH). Cell Biochem Funct 26: 291-296. (Pubitemid 351613167)
37. Sazci A, Ozel MD, Ergul E, Aygun C (2013) Association of nicotinamide-N-methyltransferase gene rs694539 variant with patients with nonalcoholic steatohepatitis. Genet Test Mol Biomarkers 17:849-853.
38. Shimomura I, Bashmakov Y, Horton JD (1999) Increased levels of nuclear SREBP-1c associated with fatty livers in two mouse models of diabetes mellitus. J Biol Chem 274:30028-30032.
39. Speliotes EK, Butler JL, Palmer CD, et al. (2010) PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology 52:904-912.
40. Speliotes EK, Yerges-Armstrong LM, Wu J, et al. (2011) Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet 7:e1001324.
41. Sookoian S, Pirola CJ (2011) Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histolog-ical severity of nonalcoholic fatty liver disease. Hepatology 53:1883-1894.
42. Stoeckman AK, Ma L, Towle HC (2004) Mlx is the functional heteromeric partner of the carbohydrate response element-binding protein in glucose regulation of lipogenic enzyme genes. J Biol Chem 279:15662-15669. (Pubitemid 38618968)
43. Tian C, Stokowski RP, Kershenobich D, et al. (2010) Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet 42:21-23.
44. Valenti L, Alisi A, Galmozzi E, et al. (2010) I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology 52: 1274-1280.
45. Valenti L, Nobili V, Al-Serri A, et al. (2011) The APOC3 T-455C and C-482T promoter region polymorphisms are not associated with the severity of liver damage independently of PNPLA3 I148M genotype in patients with nonalcoholic fatty liver. J Hepatol 55:1409-1414.
46. Wilfred de Alwis NM, Day CP (2008) Genes and nonalcoholic fattyliver disease. Curr Diab Rep 8:156-163.
47. Wilson PA, Gardner SD, Lambie NM, et al. (2006) Characterization of the human patatin-like phospholipase family. J Lipid Res 47:1940-1948.
48. Yahagi N, Shimano H, Hasty AH, et al. (2002) Absence of sterol regulatory element-binding protein-1 (SREBP-1) ameliorates fatty livers but not obesity or insulin resistance in Lep(ob)/Lep(ob) mice. J Biol Chem 77:19353-19357. (Pubitemid 34967441)
49. Zain SM, Mohamed R, Mahadeva S, et al. (2012) A multiethnic study of a PNPLA3 gene variant and its association with disease severity in non-alcoholic fatty liver disease. Hum Genet 131:1145-1152.