Research progress, challenges and perspectives on PNPLA3 and its variants in Liver Diseases

Xiang, Hongjiao; Wu, Zijun; Wang, Junmin; Wu, Tao

doi:10.7150/jca.57951

Cited by 5 publications

(1 citation statement)

References 105 publications

(140 reference statements)

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“…Patatin-like phospholipase domain-containing 3 gene (PNPLA3), also known as adiponectin, encodes a transmembrane protein composed of 481 amino acids and is expressed on the hepatocyte membrane, which can regulate lipid metabolism, inflammatory mediators and so on [6,7]. PNPLA3, located on the long arms (q) (22q.13.31) of human chromosome 22, belongs to the patatin-like phospholipase family and is highly expressed in liver and fat [8,9]. At present, numerous studies are concerned with the association of PNPLA3 gene polymorphisms with non-alcoholic fatty liver disease (NAFLD) [10][11][12], alcoholic liver disease (ALD) [13], liver fibrosis (LF) [14,15], and liver cirrhosis (LC) [16].…”

Section: Introductionmentioning

confidence: 99%

Contribution of PNPLA3 gene polymorphisms to hepatocellular carcinoma susceptibility in the Chinese Han population

Gong

et al. 2022

BMC Med Genomics

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Objectives The purpose of this study was to investigate the association of PNPLA3 single nucleotide polymorphisms (SNPs) (rs738409 C > G, rs3747207 G > A, rs4823173 G > A, and rs2896019 T > G) with hepatocellular carcinoma (HCC) susceptibility. Methods This case–control study included 484 HCC patients and 487 controls. Logistic regression analysis was performed to study the associations of PNPLA3 gene polymorphisms with HCC susceptibility, and odds ratios with their corresponding 95% confidence intervals were calculated to evaluate these correlations. Results In the overall analysis, we found that the G allele (OR = 1.25, 95% CI = 1.04–1.50, p = 0.018, false discovery rate (FDR)-p = 0.035) and GG genotype (OR = 1.59, 95% CI = 1.06–2.39, p = 0.024, FDR-p = 0.048) of rs2896019 were significantly associated with increased HCC susceptibility. In stratified analysis, we found that all four SNPs were related to increased HCC susceptibility in subjects aged > 55 years. In haplotype analysis, the GAAG haplotype was significantly associated with increased HCC susceptibility (OR = 1.25, 95% CI = 1.03–1.53, p = 0.023, FDR-p = 0.046). Besides, we noticed that rs738409 was significantly correlated with alpha-fetoprotein (AFP) (p = 0.007), and HCC patients with the GG genotype had a higher level of AFP. Conclusions Our study suggested that PNPLA3-rs2896019 was significantly associated with an increased susceptibility to HCC.

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