메뉴 건너뛰기




Volumn 7, Issue AUG, 2016, Pages

Additive effects of the risk alleles of PNPLA3 and TM6SF2 on non-alcoholic fatty liver disease (NAFLD) in a Chinese population

Author keywords

Additive effects; Chinese; NAFLD; PNPLA3; TM6SF2

Indexed keywords

GENOMIC DNA; GLUCOKINASE REGULATORY PROTEIN; LYSOPHOSPHOLIPASE LIKE 1 PROTEIN; MEMBRANE PROTEIN; NEUROCAN PROTEIN; PATATIN LIKE PHOSPHOLIPASE DOMAIN CONTAINING PROTEIN 3; TRANSMEMBRANE 6 SUPERFAMILY 2 PROTEIN; UNCLASSIFIED DRUG;

EID: 84988442792     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2016.00140     Document Type: Article
Times cited : (60)

References (27)
  • 1
    • 21344449292 scopus 로고    scopus 로고
    • Prevalence of and risk factors for nonalcoholic fatty liver disease: the Dionysos nutrition and liver study
    • Bedogni, G., Miglioli, L., Masutti, F., Tiribelli, C., Marchesini, G., and Bellentani, S. (2005). Prevalence of and risk factors for nonalcoholic fatty liver disease: the Dionysos nutrition and liver study. Hepatology 42, 44-52. doi: 10.1002/hep.20734.
    • (2005) Hepatology , vol.42 , pp. 44-52
    • Bedogni, G.1    Miglioli, L.2    Masutti, F.3    Tiribelli, C.4    Marchesini, G.5    Bellentani, S.6
  • 2
    • 78049457761 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver diseas
    • 1576.e1-1576.e6
    • Chalasani, N., Guo, X., Loomba, R., Goodarzi, M. O., Haritunians, T., Kwon, S., et al. (2010). Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Gastroenterology 139, 1567-1576, 1576.e1-1576.e6. doi: 10.1053/j.gastro.2010.07.057.
    • (2010) Gastroenterology , vol.139 , pp. 1567-1576
    • Chalasani, N.1    Guo, X.2    Loomba, R.3    Goodarzi, M.O.4    Haritunians, T.5    Kwon, S.6
  • 3
    • 84954290324 scopus 로고    scopus 로고
    • The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage
    • Donati, B., Motta, B. M., Pingitore, P., Meroni, M., Pietrelli, A., Alisi, A., et al. (2016). The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage. Hepatology 63, 787-798. doi: 10.1002/hep.28370.
    • (2016) Hepatology , vol.63 , pp. 787-798
    • Donati, B.1    Motta, B.M.2    Pingitore, P.3    Meroni, M.4    Pietrelli, A.5    Alisi, A.6
  • 4
    • 84921487729 scopus 로고    scopus 로고
    • Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease
    • Dongiovanni, P., Petta, S., Maglio, C., Fracanzani, A. L., Pipitone, R., Mozzi, E., et al. (2015). Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology 61, 506-514. doi: 10.1002/hep.27490.
    • (2015) Hepatology , vol.61 , pp. 506-514
    • Dongiovanni, P.1    Petta, S.2    Maglio, C.3    Fracanzani, A.L.4    Pipitone, R.5    Mozzi, E.6
  • 5
    • 84880417614 scopus 로고    scopus 로고
    • Epidemiology of alcoholic and nonalcoholic fatty liver disease in China
    • Fan, J. G. (2013). Epidemiology of alcoholic and nonalcoholic fatty liver disease in China. J. Gastroenterol. Hepatol. 28(Suppl. 1), 11-17. doi: 10.1111/jgh.12036.
    • (2013) J. Gastroenterol. Hepatol. , vol.28 , pp. 11-17
    • Fan, J.G.1
  • 7
    • 84952637318 scopus 로고    scopus 로고
    • Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: a multiethnic study
    • Goffredo, M., Caprio, S., Feldstein, A. E., D'Adamo, E., Shaw, M. M., Pierpont, B., et al. (2016). Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: a multiethnic study. Hepatology 63, 117-125. doi: 10.1002/hep.28283.
    • (2016) Hepatology , vol.63 , pp. 117-125
    • Goffredo, M.1    Caprio, S.2    Feldstein, A.E.3    D'Adamo, E.4    Shaw, M.M.5    Pierpont, B.6
  • 8
    • 77949895032 scopus 로고    scopus 로고
    • A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis
    • He, S., McPhaul, C., Li, J. Z., Garuti, R., Kinch, L., Grishin, N. V., et al. (2010). A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J. Biol. Chem. 285, 6706-6715. doi: 10.1074/jbc.M109.064501.
    • (2010) J. Biol. Chem. , vol.285 , pp. 6706-6715
    • He, S.1    McPhaul, C.2    Li, J.Z.3    Garuti, R.4    Kinch, L.5    Grishin, N.V.6
  • 9
    • 80052012241 scopus 로고    scopus 로고
    • Diagnostic accuracy and reliability of ultrasonography for the detection of fatty liver: a meta-analysis
    • Hernaez, R., Lazo, M., Bonekamp, S., Kamel, I., Brancati, F. L., Guallar, E., et al. (2011). Diagnostic accuracy and reliability of ultrasonography for the detection of fatty liver: a meta-analysis. Hepatology 54, 1082-1090. doi: 10.1002/hep.24452.
    • (2011) Hepatology , vol.54 , pp. 1082-1090
    • Hernaez, R.1    Lazo, M.2    Bonekamp, S.3    Kamel, I.4    Brancati, F.L.5    Guallar, E.6
  • 10
    • 84882825411 scopus 로고    scopus 로고
    • Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey
    • Hernaez, R., McLean, J., Lazo, M., Brancati, F. L., Hirschhorn, J. N., Borecki, I. B., et al. (2013). Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey. Clin. Gastroenterol. Hepatol. 11, 1183-1190 e1182. doi: 10.1016/j.cgh.2013.02.011.
    • (2013) Clin. Gastroenterol. Hepatol. , vol.11 , pp. 1183-1190
    • Hernaez, R.1    McLean, J.2    Lazo, M.3    Brancati, F.L.4    Hirschhorn, J.N.5    Borecki, I.B.6
  • 11
    • 80054806707 scopus 로고    scopus 로고
    • Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease
    • Huang, Y., Cohen, J. C., and Hobbs, H. H. (2011). Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease. J. Biol. Chem. 286, 37085-37093. doi: 10.1074/jbc.M111.290114.
    • (2011) J. Biol. Chem. , vol.286 , pp. 37085-37093
    • Huang, Y.1    Cohen, J.C.2    Hobbs, H.H.3
  • 12
    • 84898058711 scopus 로고    scopus 로고
    • Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease
    • Kozlitina, J., Smagris, E., Stender, S., Nordestgaard, B. G., Zhou, H. H., Tybjaerg-Hansen, A., et al. (2014). Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease. Nat. Genet. 46, 352-356. doi: 10.1038/ng.2901.
    • (2014) Nat. Genet. , vol.46 , pp. 352-356
    • Kozlitina, J.1    Smagris, E.2    Stender, S.3    Nordestgaard, B.G.4    Zhou, H.H.5    Tybjaerg-Hansen, A.6
  • 13
    • 84896939136 scopus 로고    scopus 로고
    • Genetic variants in GCKR and PNPLA3 confer susceptibility to nonalcoholic fatty liver disease in obese individuals
    • Lin, Y. C., Chang, P. F., Chang, M. H., and Ni, Y. H. (2014). Genetic variants in GCKR and PNPLA3 confer susceptibility to nonalcoholic fatty liver disease in obese individuals. Am. J. Clin. Nutr. 99, 869-874. doi: 10.3945/ajcn.113.079749.
    • (2014) Am. J. Clin. Nutr. , vol.99 , pp. 869-874
    • Lin, Y.C.1    Chang, P.F.2    Chang, M.H.3    Ni, Y.H.4
  • 14
    • 84903708160 scopus 로고    scopus 로고
    • TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease
    • Liu, Y. L., Reeves, H. L., Burt, A. D., Tiniakos, D., McPherson, S., Leathart, J. B., et al. (2014). TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. Nat. Commun. 5:4309. doi: 10.1038/ncomms5309.
    • (2014) Nat. Commun. , vol.5 , pp. 4309
    • Liu, Y.L.1    Reeves, H.L.2    Burt, A.D.3    Tiniakos, D.4    McPherson, S.5    Leathart, J.B.6
  • 15
    • 84902602986 scopus 로고    scopus 로고
    • TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content
    • Mahdessian, H., Taxiarchis, A., Popov, S., Silveira, A., Franco-Cereceda, A., Hamsten, A., et al. (2014). TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. Proc. Natl. Acad. Sci. U.S.A. 111, 8913-8918. doi: 10.1073/pnas.1323785111.
    • (2014) Proc. Natl. Acad. Sci. U.S.A. , vol.111 , pp. 8913-8918
    • Mahdessian, H.1    Taxiarchis, A.2    Popov, S.3    Silveira, A.4    Franco-Cereceda, A.5    Hamsten, A.6
  • 16
    • 84883241741 scopus 로고    scopus 로고
    • Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent
    • Palmer, N. D., Musani, S. K., Yerges-Armstrong, L. M., Feitosa, M. F., Bielak, L. F., Hernaez, R., et al. (2013). Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent. Hepatology 58, 966-975. doi: 10.1002/hep.26440.
    • (2013) Hepatology , vol.58 , pp. 966-975
    • Palmer, N.D.1    Musani, S.K.2    Yerges-Armstrong, L.M.3    Feitosa, M.F.4    Bielak, L.F.5    Hernaez, R.6
  • 17
    • 84903996547 scopus 로고    scopus 로고
    • PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells
    • Pirazzi, C., Valenti, L., Motta, B. M., Pingitore, P., Hedfalk, K., Mancina, R. M., et al. (2014). PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells. Hum. Mol. Genet. 23, 4077-4085. doi: 10.1093/hmg/ddu121.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 4077-4085
    • Pirazzi, C.1    Valenti, L.2    Motta, B.M.3    Pingitore, P.4    Hedfalk, K.5    Mancina, R.M.6
  • 18
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D., et al. (2007). PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575. doi: 10.1086/519795.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5    Bender, D.6
  • 19
    • 56749096610 scopus 로고    scopus 로고
    • Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
    • Romeo, S., Kozlitina, J., Xing, C., Pertsemlidis, A., Cox, D., Pennacchio, L. A., et al. (2008). Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat. Genet. 40, 1461-1465. doi: 10.1038/ng.257.
    • (2008) Nat. Genet. , vol.40 , pp. 1461-1465
    • Romeo, S.1    Kozlitina, J.2    Xing, C.3    Pertsemlidis, A.4    Cox, D.5    Pennacchio, L.A.6
  • 21
    • 84920955177 scopus 로고    scopus 로고
    • Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis
    • Smagris, E., BasuRay, S., Li, J., Huang, Y., Lai, K. M., Gromada, J., et al. (2015). Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology 61, 108-118. doi: 10.1002/hep.27242.
    • (2015) Hepatology , vol.61 , pp. 108-118
    • Smagris, E.1    BasuRay, S.2    Li, J.3    Huang, Y.4    Lai, K.M.5    Gromada, J.6
  • 22
    • 79955841697 scopus 로고    scopus 로고
    • Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases
    • So, H. C., Gui, A. H., Cherny, S. S., and Sham, P. C. (2011). Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet. Epidemiol. 35, 310-317. doi: 10.1002/gepi.20579.
    • (2011) Genet. Epidemiol. , vol.35 , pp. 310-317
    • So, H.C.1    Gui, A.H.2    Cherny, S.S.3    Sham, P.C.4
  • 23
    • 84921528716 scopus 로고    scopus 로고
    • Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity
    • Sookoian, S., Castano, G. O., Scian, R., Mallardi, P., Fernandez Gianotti, T., Burgueno, A. L., et al. (2015). Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity. Hepatology 61, 515-525. doi: 10.1002/hep.27556.
    • (2015) Hepatology , vol.61 , pp. 515-525
    • Sookoian, S.1    Castano, G.O.2    Scian, R.3    Mallardi, P.4    Fernandez Gianotti, T.5    Burgueno, A.L.6
  • 24
    • 79957462315 scopus 로고    scopus 로고
    • Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease
    • Sookoian, S., and Pirola, C. J. (2011). Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology 53, 1883-1894. doi: 10.1002/hep.24283.
    • (2011) Hepatology , vol.53 , pp. 1883-1894
    • Sookoian, S.1    Pirola, C.J.2
  • 25
    • 79953745343 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits
    • Speliotes, E. K., Yerges-Armstrong, L. M., Wu, J., Hernaez, R., Kim, L. J., Palmer, C. D., 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. doi: 10.1371/journal.pgen.1001324.
    • (2011) PLoS Genet. , vol.7
    • Speliotes, E.K.1    Yerges-Armstrong, L.M.2    Wu, J.3    Hernaez, R.4    Kim, L.J.5    Palmer, C.D.6
  • 26
    • 84929607311 scopus 로고    scopus 로고
    • The TM6SF2 rs58542926 T allele is significantly associated with non-alcoholic fatty liver disease in Chinese
    • Wang, X., Liu, Z., Peng, Z., and Liu, W. (2015). The TM6SF2 rs58542926 T allele is significantly associated with non-alcoholic fatty liver disease in Chinese. J. Hepatol. 62, 1438-1439. doi: 10.1016/j.jhep.2015.01.040.
    • (2015) J. Hepatol. , vol.62 , pp. 1438-1439
    • Wang, X.1    Liu, Z.2    Peng, Z.3    Liu, W.4
  • 27
    • 42449155505 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and treatment of nonalcoholic fatty liver diseases
    • Zeng, M. D., Fan, J. G., Lu, L. G., Li, Y. M., Chen, C. W., Wang, B. Y., et al. (2008). Guidelines for the diagnosis and treatment of nonalcoholic fatty liver diseases. J. Dig. Dis. 9, 108-112. doi: 10.1111/j.1751-2980.2008.00331.x.
    • (2008) J. Dig. Dis. , vol.9 , pp. 108-112
    • Zeng, M.D.1    Fan, J.G.2    Lu, L.G.3    Li, Y.M.4    Chen, C.W.5    Wang, B.Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.