Effect of PNPLA3 polymorphism on diagnostic performance of various noninvasive markers for diagnosing and staging nonalcoholic fatty liver disease
Background and Aim Patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3‐I148M (rs738409) genotype also influences the diagnostic performa...
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Published in | Journal of gastroenterology and hepatology Vol. 35; no. 6; pp. 1057 - 1064 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
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Abstract | Background and Aim
Patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3‐I148M (rs738409) genotype also influences the diagnostic performance of noninvasive diagnostic tests for NAFLD is uncertain. Our aim was to investigate the differences in diagnostic performance of noninvasive diagnostic tests for NAFLD according to PNPLA3‐I148M (rs738409) genotype.
Methods
Fifty‐eight healthy controls and 349 patients with biopsy‐proven NAFLD were included. Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin‐18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis‐4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups).
Results
Fatty liver index and hepatic steatosis index showed good diagnostic performance for diagnosing steatosis only in the CG + GG group with AUROCs ranging from 0.819 to 0.832. Cytokeratin‐18 M30 (AUROC = 0.688) and M65 (AUROC = 0.678) had suboptimal performance for diagnosing nonalcoholic steatohepatitis in the CG + GG group, whereas both had good performance (AUROC = 0.814 and 0.813, respectively) in the CC group. BARD score showed good performance in the CG + GG group compared with the CC group (AUROC = 0.805 and 0.532, respectively). Fibrosis‐4 had suboptimal performance in the CG + GG group and good performance in the CC group (AUROC = 0.662 and 0.801, respectively).
Conclusions
Diagnostic performance of noninvasive tests for NAFLD varied markedly according to PNPLA3 genotypes. Clinicians should be aware that PNPLA3 genotype limits the clinical utility of noninvasive diagnostic tests for diagnosing NAFLD. |
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AbstractList | Patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3-I148M (rs738409) genotype also influences the diagnostic performance of noninvasive diagnostic tests for NAFLD is uncertain. Our aim was to investigate the differences in diagnostic performance of noninvasive diagnostic tests for NAFLD according to PNPLA3-I148M (rs738409) genotype.
Fifty-eight healthy controls and 349 patients with biopsy-proven NAFLD were included. Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin-18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis-4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups).
Fatty liver index and hepatic steatosis index showed good diagnostic performance for diagnosing steatosis only in the CG + GG group with AUROCs ranging from 0.819 to 0.832. Cytokeratin-18 M30 (AUROC = 0.688) and M65 (AUROC = 0.678) had suboptimal performance for diagnosing nonalcoholic steatohepatitis in the CG + GG group, whereas both had good performance (AUROC = 0.814 and 0.813, respectively) in the CC group. BARD score showed good performance in the CG + GG group compared with the CC group (AUROC = 0.805 and 0.532, respectively). Fibrosis-4 had suboptimal performance in the CG + GG group and good performance in the CC group (AUROC = 0.662 and 0.801, respectively).
Diagnostic performance of noninvasive tests for NAFLD varied markedly according to PNPLA3 genotypes. Clinicians should be aware that PNPLA3 genotype limits the clinical utility of noninvasive diagnostic tests for diagnosing NAFLD. Abstract Background and Aim Patatin‐like phospholipase domain‐containing protein 3 ( PNPLA3 ) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3 ‐I148M (rs738409) genotype also influences the diagnostic performance of noninvasive diagnostic tests for NAFLD is uncertain. Our aim was to investigate the differences in diagnostic performance of noninvasive diagnostic tests for NAFLD according to PNPLA3 ‐I148M (rs738409) genotype. Methods Fifty‐eight healthy controls and 349 patients with biopsy‐proven NAFLD were included. Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin‐18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis‐4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups). Results Fatty liver index and hepatic steatosis index showed good diagnostic performance for diagnosing steatosis only in the CG + GG group with AUROCs ranging from 0.819 to 0.832. Cytokeratin‐18 M30 (AUROC = 0.688) and M65 (AUROC = 0.678) had suboptimal performance for diagnosing nonalcoholic steatohepatitis in the CG + GG group, whereas both had good performance (AUROC = 0.814 and 0.813, respectively) in the CC group. BARD score showed good performance in the CG + GG group compared with the CC group (AUROC = 0.805 and 0.532, respectively). Fibrosis‐4 had suboptimal performance in the CG + GG group and good performance in the CC group (AUROC = 0.662 and 0.801, respectively). Conclusions Diagnostic performance of noninvasive tests for NAFLD varied markedly according to PNPLA3 genotypes. Clinicians should be aware that PNPLA3 genotype limits the clinical utility of noninvasive diagnostic tests for diagnosing NAFLD. Background and Aim Patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3‐I148M (rs738409) genotype also influences the diagnostic performance of noninvasive diagnostic tests for NAFLD is uncertain. Our aim was to investigate the differences in diagnostic performance of noninvasive diagnostic tests for NAFLD according to PNPLA3‐I148M (rs738409) genotype. Methods Fifty‐eight healthy controls and 349 patients with biopsy‐proven NAFLD were included. Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin‐18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis‐4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups). Results Fatty liver index and hepatic steatosis index showed good diagnostic performance for diagnosing steatosis only in the CG + GG group with AUROCs ranging from 0.819 to 0.832. Cytokeratin‐18 M30 (AUROC = 0.688) and M65 (AUROC = 0.678) had suboptimal performance for diagnosing nonalcoholic steatohepatitis in the CG + GG group, whereas both had good performance (AUROC = 0.814 and 0.813, respectively) in the CC group. BARD score showed good performance in the CG + GG group compared with the CC group (AUROC = 0.805 and 0.532, respectively). Fibrosis‐4 had suboptimal performance in the CG + GG group and good performance in the CC group (AUROC = 0.662 and 0.801, respectively). Conclusions Diagnostic performance of noninvasive tests for NAFLD varied markedly according to PNPLA3 genotypes. Clinicians should be aware that PNPLA3 genotype limits the clinical utility of noninvasive diagnostic tests for diagnosing NAFLD. BACKGROUND AND AIMPatatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3-I148M (rs738409) genotype also influences the diagnostic performance of noninvasive diagnostic tests for NAFLD is uncertain. Our aim was to investigate the differences in diagnostic performance of noninvasive diagnostic tests for NAFLD according to PNPLA3-I148M (rs738409) genotype. METHODSFifty-eight healthy controls and 349 patients with biopsy-proven NAFLD were included. Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin-18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis-4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups). RESULTSFatty liver index and hepatic steatosis index showed good diagnostic performance for diagnosing steatosis only in the CG + GG group with AUROCs ranging from 0.819 to 0.832. Cytokeratin-18 M30 (AUROC = 0.688) and M65 (AUROC = 0.678) had suboptimal performance for diagnosing nonalcoholic steatohepatitis in the CG + GG group, whereas both had good performance (AUROC = 0.814 and 0.813, respectively) in the CC group. BARD score showed good performance in the CG + GG group compared with the CC group (AUROC = 0.805 and 0.532, respectively). Fibrosis-4 had suboptimal performance in the CG + GG group and good performance in the CC group (AUROC = 0.662 and 0.801, respectively). CONCLUSIONSDiagnostic performance of noninvasive tests for NAFLD varied markedly according to PNPLA3 genotypes. Clinicians should be aware that PNPLA3 genotype limits the clinical utility of noninvasive diagnostic tests for diagnosing NAFLD. |
Author | Rios, Rafael S. Liu, Wen‐Yue Byrne, Christopher D Zheng, Kenneth I. Pan, Xiao‐Yan Wu, Xi‐Xi Ma, Hong‐Lei Targher, Giovanni Wang, Xiao‐Dong Zhu, Pei‐Wu Chen, Yong‐Ping Zheng, Ming‐Hua |
Author_xml | – sequence: 1 givenname: Wen‐Yue surname: Liu fullname: Liu, Wen‐Yue organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 2 givenname: Kenneth I. surname: Zheng fullname: Zheng, Kenneth I. organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 3 givenname: Xiao‐Yan surname: Pan fullname: Pan, Xiao‐Yan organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 4 givenname: Hong‐Lei surname: Ma fullname: Ma, Hong‐Lei organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 5 givenname: Pei‐Wu surname: Zhu fullname: Zhu, Pei‐Wu organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 6 givenname: Xi‐Xi surname: Wu fullname: Wu, Xi‐Xi organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 7 givenname: Rafael S. surname: Rios fullname: Rios, Rafael S. organization: The First Affiliated Hospital of Wenzhou Medical University – sequence: 8 givenname: Giovanni surname: Targher fullname: Targher, Giovanni organization: University and Azienda Ospedaliera Universitaria Integrata of Verona – sequence: 9 givenname: Christopher D surname: Byrne fullname: Byrne, Christopher D organization: University Hospital Southampton, Southampton General Hospital – sequence: 10 givenname: Xiao‐Dong surname: Wang fullname: Wang, Xiao‐Dong organization: The Key Laboratory of Diagnosis and Treatment for The Development of Chronic Liver Disease in Zhejiang Province – sequence: 11 givenname: Yong‐Ping surname: Chen fullname: Chen, Yong‐Ping organization: The Key Laboratory of Diagnosis and Treatment for The Development of Chronic Liver Disease in Zhejiang Province – sequence: 12 givenname: Ming‐Hua orcidid: 0000-0003-4984-2631 surname: Zheng fullname: Zheng, Ming‐Hua email: zhengmh@wmu.edu.cn organization: The Key Laboratory of Diagnosis and Treatment for The Development of Chronic Liver Disease in Zhejiang Province |
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Keywords | Noninvasive marker Single-nucleotide polymorphisms Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis Patatin-like phospholipase domain-containing protein 3 |
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Patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in... Patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with... Abstract Background and Aim Patatin‐like phospholipase domain‐containing protein 3 ( PNPLA3 ) I148M (rs738409) genotype influences clinical/biochemical... Background and AimPatatin‐like phospholipase domain‐containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in... BACKGROUND AND AIMPatatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in... |
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SubjectTerms | Biochemical characteristics Biopsy Cytokeratin Diagnostic tests Fatty liver Fibrosis Gene polymorphism Genotype & phenotype Liver diseases Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis Noninvasive marker Patatin‐like phospholipase domain‐containing protein 3 Phospholipase Single‐nucleotide polymorphisms Steatosis |
Title | Effect of PNPLA3 polymorphism on diagnostic performance of various noninvasive markers for diagnosing and staging nonalcoholic fatty liver disease |
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