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The effect of PNPLA3 polymorphism as gain in function mutation in the pathogenesis of non-alcoholic fatty liver disease

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Abstract

Background

Non-alcoholic fatty liver disease (NAFLD) is often associated with metabolic syndrome (type 2 diabetes, hypertension, hypertriglyceridemia, insulin resistance, and obesity). NAFLD is multi-factorial in pathogenesis with some genetic predisposition. The variant patatin-like phospholipase domain–containing protein 3 (PNPLA3) is known to be an independent risk factor for hepatocellular cancer (HCC). The aim of this study was to investigate the role of PNPLA3 polymorphism as the risk factor for NAFLD.

Methodology

Patients had histological, ultrasonographic, biopsy evidence of NAFLD (n=248) and 81 controls were studied for PNPLA3 polymorphism. PNPLA3 genotyping was done from peripheral blood DNA by real-time polymerase chain reaction (RT-PCR).

Results

PNPLA3 genotyping of the groups NAFLD (CC [n = 76], CG [n = 83], GG [n = 89]) and control (CC [n= 42], CG [n = 22], GG [n = 17]) was determined. In the patient group, the G allele was 261 (52.63%) and the C allele was 235 (47.37%), whereas in the control group, the G allele was 56 (34.54%) and the C allele was 106 (65.43%). In our study, 53 out of 174 women had GG allele and 54 out of 155 men had GG allele.

Conclusion

The findings suggest that there is a predominant relationship between men with PNPLA3 I148M variant with NAFLD in women. Patients with NAFLD carrying PNPLA3 rs738409 G>C variant are at higher risk of NAFLD.

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Acknowledgments

The authors thank that all the subjects who participated in this study.

Funding

This study was funded by the Çukurova University Research Fund TF2017BAP.

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Authors and Affiliations

  1. Department of Gastroenterology, Faculty of Medicine, Çukurova University, 01330, Adana, Turkey

    Anıl Delik & Hikmet Akkız

  2. Department of Biology, Faculty of Natural and Applied Science, Çukurova University, 01330, Adana, Turkey

    Anıl Delik & Sadık Dinçer

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  1. Anıl Delik
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  2. Hikmet Akkız
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Correspondence to Anıl Delik.

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AD, HA, and SD declare that they have no conflict of interest.

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The authors declare that the study was performed in a manner conforming to the Helsinki declaration of 1975, as revised in 2000 and 2008 concerning human and animal rights, and the authors followed the policy concerning informed consent as shown on Springer.com. The study was approved by the ethics committee of the Çukurova University Faculty of Medicine, Adana, Turkey.

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Delik, A., Akkız, H. & Dinçer, S. The effect of PNPLA3 polymorphism as gain in function mutation in the pathogenesis of non-alcoholic fatty liver disease. Indian J Gastroenterol 39, 84–91 (2020). https://doi.org/10.1007/s12664-020-01026-x

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  • DOI: https://doi.org/10.1007/s12664-020-01026-x

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