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. 2020 Sep 21;1(3):82-87.
doi: 10.14744/hf.2020.2020.0023. eCollection 2020 Sep.

The role of PNPLA3 (rs738409) c>g variant on histological progression of non-alcoholic fatty liver disease

Ramazan Idilman  1   2 , Senem Ceren Karatayli  2   3 , Gokhan Kabacam  1 , Berna Savas  4 , Atilla Halil Elhan  5 , A Mithat Bozdayi  2
Affiliations

The role of PNPLA3 (rs738409) c>g variant on histological progression of non-alcoholic fatty liver disease

Ramazan Idilman et al. Hepatol Forum. .

Abstract

Background and aim: The present study aims to investigate the role of genetic variability of the PNPLA3 gene (adiponectin) in predisposition to non-alcoholic fatty liver disease (NAFLD) by comparing NAFLD patients to healthy controls and to investigate any impact of the PNPLA3 genetic variability on the natural course of the disease.

Materials and methods: This cohort consisted of 174 patients with biopsy-proven NAFLD and 151 healthy controls. DNA was extracted from peripheral blood and the rs738409 C>G single nucleotide polymorphism was assessed using PCR-DNA sequencing.

Results: The frequency distribution of the GG genotype was significantly higher in NAFLD patients than in controls (p=0.01). In patients with NAFLD, the GG genotype was associated with lower platelet counts (p=0.001), the presence of steatohepatitis (p=0.04) and hepatic fibrosis (p=0.016). After adjustment for age, gender, obesity, and diabetes mellitus, the GG genotype was an independent predictor of significant hepatic fibrosis (adjusted odds ratio =3.031 p=0.012). From the baseline to sequential liver biopsies, the progression of NAS in NAFLD patients was slightly higher in the GG genotype than that of CC and GG genotypes (p=0.18).

Conclusion: The PNPLA3 GG genotype is a predisposing factor for the development of hepatic steatosis in NAFLD patients and related to a more severe liver disease.

Keywords: PNPLA3; genome-wide association studies (GWAS); nonalcoholic fatty liver disease; steatohepatitis.

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Conflict of interest statement

The authors have no conflict of interest to declare.

Figures

Figure 1
Figure 1
The frequency distributions of the PNPLA3 gene, CC, CG and GG genotypes in NAFLD patients compared to healthy controls.
See this image and copyright information in PMC

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References

    1. Argo CK, Caldwell SH. Epidemiology and natural history of non-alcoholic steatohepatitis. Clin Liver Dis. 2009;13(4):511–531. - PubMed
    1. Lazo M, Clark JM. The epidemiology of nonalcoholic fatty liver disease: a global perspective. Semin Liver Dis. 2008;28(4):339–350. - PubMed
    1. Diehl AM, Day C. Cause, Pathogenesis, and Treatment of Nonalcoholic Steatohepatitis. N Engl J Med. 2017;377(21):2063–2072. - PubMed
    1. Sheka AC, Adeyi O, Thompson J, Hameed B, Crawford PA, Ikramuddin S. Nonalcoholic Steatohepatitis: A Review. JAMA. 2020;323(12):1175–1183. - PubMed
    1. Browning JD, Szczepaniak LS, Dobbins R, Nuremberg P, Horton JD, Cohen JC, et al. Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology. 2004;40(6):1387–1395. - PubMed

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