The common <i><scp>PNPLA</scp>3</i> variant p.I148M is associated with liver fat contents as quantified by controlled attenuation parameter (<scp>CAP</scp>)

Arslanow, Anita; Stokes, Caroline S.; Weber, Susanne N.; Grünhage, F; Lammert, Frank; Krawczyk, Marcin

doi:10.1111/liv.12937

Cited by 26 publications

(18 citation statements)

References 40 publications

(56 reference statements)

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“…Based on our current results, one can still argue that, in comparison to the TM6SF2 and MBOAT7 genotypes, the PNPLA3 p.I148M variant plays a more important role as the determinant of severe hepatic phenotypes ranging from steatosis to fibrosis and cirrhosis. This is in line with our latest controlled-attenuation, parameter-based study in patients with chronic liver diseases (19). In this analysis, we did not identify any major effects of the TM6SF2 variant on liver injury, which, however, were detected in carriers of the PNPLA3 minor allele.…”

Section: Fig 2 Box-and-whisker Plots Illustrating Liver Function Tesupporting

confidence: 75%

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

Krawczyk

Rau

Schattenberg

et al. 2017

Journal of Lipid Research

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182

158

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Section: Fig 2 Box-and-whisker Plots Illustrating Liver Function Tesupporting

confidence: 75%

“…DNA concentrations were measured using a NanoDrop spectrophotometer. All variants were genotyped using TaqMan assays (19). The fluorescence data were analyzed with allelic discrimination 7500 Software v.2.0.2.…”

Section: Genotyping Of the Pnpla3 (Rs738409) Tm6sf2 (Rs58542926) Anmentioning

confidence: 99%

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

Krawczyk

Rau

Schattenberg

et al. 2017

Journal of Lipid Research

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182

158

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“…This novel quantitative parameter measures liver fat contents based on the attenuation of the ultrasound signal by fat, the details of which have been previously described [28]. The CAP value is expressed in decibel per meter (dB/m) and ranges from 100 -400 dB/m.…”

Section: Quantification Of Hepatic Steatosismentioning

confidence: 99%

Effect of Short-Term Vitamin D Correction on Hepatic Steatosis as Quantified by Controlled Attenuation Parameter (CAP)

Papapostoli

Lammert

Stokes

2016

JGLD

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Introduction: Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in Western countries. A meta-analysis has confirmed decreased serum 25-hydroxyvitamin D levels in NAFLD patients. This intervention study investigates whether vitamin D correction ameliorates hepatic steatosis. Methods: We prospectively recruited 40 patients from an outpatient liver clinic with vitamin D deficiency (serum 25-hydroxyvitamin D < 20 ng/ml). Controlled attenuation parameter (CAP) during transient elastography quantified hepatic steatosis. Patients with significant liver fat accumulation were included, which was defined by a CAP value ≥ 280 dB/m. Patients received 20,000 IU vitamin D/week for six months, while vitamin D status, liver function tests (LFTs), CAP and body composition were monitored. Results: The cohort comprised 47.5% women (age 54.9 ± 12.1 years; BMI 29.5 ± 3.0 kg/m2). Mean serum vitamin D level was 11.8 ± 4.8 ng/ml. CAP decreased significantly from baseline (330 ± 32 vs. 307 ± 41 dB/m) during supplementation (P = 0.007). A mean CAP reduction relative to baseline was demonstrated at four weeks and three and six months: -5.3 ± 13.8%; -6.0 ± 14.6% and -6.4 ± 13.0%, respectively. During these time points, restoration of serum vitamin D levels was observed (34.6 ± 12.9, 36.3 ± 10.2, 34.8 ± 9.8 ng/ml; P < 0.0001). Liver function tests and body composition remained unchanged. Conclusions: Hepatic steatosis, as assessed by CAP, significantly improves after only 4 weeks of vitamin D correction. Hepatic steatosis is a dynamic process, that can be monitored in the short-term using such non-invasive methods. Abbreviations: ALT: alanine aminotransferase; ANOVA: analysis of variance; AP: alkaline phosphatase; AST: aspartate aminotransferase; CAP: controlled attenuation parameter; CRP: C-reactive protein; FFA: free fatty acids; γ-GT: gamma-glutamyl transpeptidase; ITT: intention-to-treat; LFT: liver function test; LSM: liver stiffness measurement; NAFLD: non-alcoholic fatty liver disease; PPAR-γ: peroxisome proliferator-activated receptor gamma; PP: per protocol; PTH: parathyroid hormone; VDR: vitamin D receptor

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“…16 CAP results were only included if they were based on 10 valid measurements. The full technique has been described previously.…”

Section: Noninvasive Assessment Of Hepatic Steatosis and Fibrosismentioning

confidence: 99%

Hepatic steatosis in patients with acromegaly

Koutsou‐Tassopoulou

Papapostoli‐Sklavounou

Krawczyk

et al. 2019

Endocrino Diabet & Metabol

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Objective Comorbid NAFLD is increasingly being diagnosed in patients with diabetes and nondiabetic endocrinopathies. The aim of this study was to assess hepatic steatosis noninvasively by transient elastography in patients with acromegaly. Design A cross‐sectional study including 22 patients with acromegaly. Methods Hepatic steatosis was quantified using controlled attenuation parameter (CAP) during elastography. Anthropometric measurements were obtained, serum liver function tests and lipid and hormone profiles were measured, and prosteatogenic gene variants were genotyped using standard assays. Results In total, 41% of patients were women (mean age 60 ± 14.7 years, mean BMI 31.2 ± 4.6 kg/m2). Hepatic steatosis, as defined by CAP > 248 dB/m, was present in 66% of patients. Five (45%) of the patients with hepatic steatosis also had fibrosis, and one presented with cirrhosis. Nine patients were carriers of the PNPLA3 p.I148M prosteatogenic [M] risk allele, eight of whom were heterozygotes. CAP values were significantly (P = .045) higher in these patients and corresponded to advanced steatosis, as compared to patients with the wild‐type genotype, who demonstrated CAP values consistent with mild steatosis (311 ± 33 dB/m. vs 254 ± 62 dB/m). CAP values did not differ significantly in carriers of distinct TM6SF2 and MBOAT7 genotypes; however, carriers of the risk alleles displayed higher CAP as compared to wild‐type patients. Conclusions This study shows that in patients with acromegaly, carriers of the PNPLA3 susceptibility allele are at risk of developing hepatic steatosis, as assessed by CAP. Comorbid NAFLD might compound prognosis in such patients; thus, further research into the pathomechanisms and treatment of NAFLD in acromegaly is warranted.

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The common PNPLA3 variant p.I148M is associated with liver fat contents as quantified by controlled attenuation parameter (CAP)

Abstract: The PNPLA3 p.I148M variant represents the most important prosteatotic genetic risk factor. NAFLD carriers of this variant should be followed up carefully, with elastography and CAP being ideally suited for this purpose.

Cited by 26 publications

References 40 publications

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

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

Effect of Short-Term Vitamin D Correction on Hepatic Steatosis as Quantified by Controlled Attenuation Parameter (CAP)

Hepatic steatosis in patients with acromegaly

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