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Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study

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Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study. / Krawczyk, Marcin; Rau, Monika; Schattenberg, Jörn M; Bantel, Heike; Pathil, Anita; Demir, Münevver; Kluwe, Johannes; Boettler, Tobias; Lammert, Frank; Geier, Andreas.

In: J LIPID RES, Vol. 58, No. 1, 01.2017, p. 247-255.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Krawczyk, M, Rau, M, Schattenberg, JM, Bantel, H, Pathil, A, Demir, M, Kluwe, J, Boettler, T, Lammert, F & Geier, A 2017, 'Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study', J LIPID RES, vol. 58, no. 1, pp. 247-255. https://doi.org/10.1194/jlr.P067454

APA

Krawczyk, M., Rau, M., Schattenberg, J. M., Bantel, H., Pathil, A., Demir, M., Kluwe, J., Boettler, T., Lammert, F., & Geier, A. (2017). Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study. J LIPID RES, 58(1), 247-255. https://doi.org/10.1194/jlr.P067454

Vancouver

Krawczyk M, Rau M, Schattenberg JM, Bantel H, Pathil A, Demir M et al. Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study. J LIPID RES. 2017 Jan;58(1):247-255. https://doi.org/10.1194/jlr.P067454

Bibtex

@article{17ff163369b94a1fafa78e3845c1736c,
title = "Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study",
abstract = "BACKGROUND AND AIMS: The PNPLA3 p.I148M and TM6SF2 p.E167K and MBOAT7 rs641738 variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in NAFLD patients.PATIENTS AND METHODS: We recruited 515 patients with NAFLD (age 16-88 years, 280 females). In 320 patients liver biopsies were performed. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants.RESULTS: Carriers of the PNPLA3 and TM6SF2 risk alleles showed increased serum AST and ALT activities (P<0.05). The PNPLA3 genotype was associated with steatosis grades S2-S3 (P<0.001) and fibrosis stages F2-F4 (P<0.001). The TM6SF2 genotype was associated with steatosis (P=0.003) but not with fibrosis (P>0.05). The MBOAT7 variant was solely associated with increased fibrosis (P=0.046). In the multivariate model, variants PNPLA3 (P=0.003) and TM6SF2 (P=0.030) were associated with steatosis. Fibrosis stages were affected by the PNPLA3 (P=0.042) and MBOAT7 (P=0.021), but not by the TM6SF2 polymorphism (P>0.05).CONCLUSIONS: The PNPLA3, TM6SF2 and MBOAT7 variants are associated with increased liver injury. The TM6SF2 variant seems to modulate predominantly hepatic fat accumulation whereas the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk of both increased steatosis and fibrosis.",
author = "Marcin Krawczyk and Monika Rau and Schattenberg, {J{\"o}rn M} and Heike Bantel and Anita Pathil and M{\"u}nevver Demir and Johannes Kluwe and Tobias Boettler and Frank Lammert and Andreas Geier",
note = "Copyright {\textcopyright} 2016, The American Society for Biochemistry and Molecular Biology.",
year = "2017",
month = jan,
doi = "10.1194/jlr.P067454",
language = "English",
volume = "58",
pages = "247--255",
journal = "J LIPID RES",
issn = "0022-2275",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Combined effects of the TM6SF2 rs58542926, PNPLA3 rs738409 and MBOAT7 rs641738 variants on NAFLD severity: multicentre biopsy-based study

AU - Krawczyk, Marcin

AU - Rau, Monika

AU - Schattenberg, Jörn M

AU - Bantel, Heike

AU - Pathil, Anita

AU - Demir, Münevver

AU - Kluwe, Johannes

AU - Boettler, Tobias

AU - Lammert, Frank

AU - Geier, Andreas

N1 - Copyright © 2016, The American Society for Biochemistry and Molecular Biology.

PY - 2017/1

Y1 - 2017/1

N2 - BACKGROUND AND AIMS: The PNPLA3 p.I148M and TM6SF2 p.E167K and MBOAT7 rs641738 variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in NAFLD patients.PATIENTS AND METHODS: We recruited 515 patients with NAFLD (age 16-88 years, 280 females). In 320 patients liver biopsies were performed. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants.RESULTS: Carriers of the PNPLA3 and TM6SF2 risk alleles showed increased serum AST and ALT activities (P<0.05). The PNPLA3 genotype was associated with steatosis grades S2-S3 (P<0.001) and fibrosis stages F2-F4 (P<0.001). The TM6SF2 genotype was associated with steatosis (P=0.003) but not with fibrosis (P>0.05). The MBOAT7 variant was solely associated with increased fibrosis (P=0.046). In the multivariate model, variants PNPLA3 (P=0.003) and TM6SF2 (P=0.030) were associated with steatosis. Fibrosis stages were affected by the PNPLA3 (P=0.042) and MBOAT7 (P=0.021), but not by the TM6SF2 polymorphism (P>0.05).CONCLUSIONS: The PNPLA3, TM6SF2 and MBOAT7 variants are associated with increased liver injury. The TM6SF2 variant seems to modulate predominantly hepatic fat accumulation whereas the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk of both increased steatosis and fibrosis.

AB - BACKGROUND AND AIMS: The PNPLA3 p.I148M and TM6SF2 p.E167K and MBOAT7 rs641738 variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in NAFLD patients.PATIENTS AND METHODS: We recruited 515 patients with NAFLD (age 16-88 years, 280 females). In 320 patients liver biopsies were performed. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants.RESULTS: Carriers of the PNPLA3 and TM6SF2 risk alleles showed increased serum AST and ALT activities (P<0.05). The PNPLA3 genotype was associated with steatosis grades S2-S3 (P<0.001) and fibrosis stages F2-F4 (P<0.001). The TM6SF2 genotype was associated with steatosis (P=0.003) but not with fibrosis (P>0.05). The MBOAT7 variant was solely associated with increased fibrosis (P=0.046). In the multivariate model, variants PNPLA3 (P=0.003) and TM6SF2 (P=0.030) were associated with steatosis. Fibrosis stages were affected by the PNPLA3 (P=0.042) and MBOAT7 (P=0.021), but not by the TM6SF2 polymorphism (P>0.05).CONCLUSIONS: The PNPLA3, TM6SF2 and MBOAT7 variants are associated with increased liver injury. The TM6SF2 variant seems to modulate predominantly hepatic fat accumulation whereas the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk of both increased steatosis and fibrosis.

U2 - 10.1194/jlr.P067454

DO - 10.1194/jlr.P067454

M3 - SCORING: Journal article

C2 - 27836992

VL - 58

SP - 247

EP - 255

JO - J LIPID RES

JF - J LIPID RES

SN - 0022-2275

IS - 1

ER -