AI Article Synopsis

  • The study investigates the potential causal links between biomarkers related to acute intermittent porphyria (AIP) and congenital erythropoietic porphyria (CEP) and alcohol-related hepatocellular carcinoma (AR-HCC).
  • Researchers utilized genetic data from public genome-wide association studies (GWAS) to analyze correlations using Mendelian randomization methods.
  • Results indicated significant causal effects of porphobilinogen deaminase (PBGD) and uroporphyrinogen-III synthase (UROS) on AR-HCC, suggesting a connection between these types of porphyria and liver cancer.

Article Abstract

Purpose: According to some cohort studies, an association exists between acute intermittent porphyria (AIP) and liver cancer. However, establishing a definitive causal relationship between porphyria and hepatocellular carcinoma (HCC) remains challenging. Prexisting studies regarding porphyria biomarkers and alcohol-related hepatocellular carcinoma (AR-HCC) make possible an entry point. In this study, we aimed to investigate the causal relationships between biomarkers of two types of porphyria, AIP and congenital erythropoietic porphyria (CEP), and AR-HCC.

Methods: Single-nucleotide polymorphisms (SNPs) associated with porphobilinogen deaminase (PBGD) and uroporphyrinogen-III synthase (UROS), along with outcome data on AR-HCC, were extracted from public genome-wide association studies (GWAS). The GWAS data were then used to explore the potential causal relationships via a two-sample Mendelian randomization (MR) analysis. The effect estimates were calculated using the random-effect inverse-variance-weighted (IVW) method. Additionally, the Cochrane's Q test, MR-Egger test, and leave-one-out analysis were conducted to detect heterogeneity and pleiotropy in the MR results.

Results: Using the IVW method as the primary causal effects model in the MR analyses, we found that both PBGD (effect estimate = 1.51; 95% CI, from 1.08 to 2.11, p = 0.016) and UROS (effect estimate = 1.53; 95% CI, from 1.08 to 2.18, p = 0.018) have a significant causal effect on AR-HCC.

Conclusion: Our findings revealed a causal effect of both PBGD and UROS on AR-HCC, suggesting that both AIP and CEP have a causal association with AR-HCC.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10954128PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0299536PLOS

Publication Analysis

Top Keywords

hepatocellular carcinoma
12
causal
8
porphyria biomarkers
8
biomarkers alcohol-related
8
alcohol-related hepatocellular
8
mendelian randomization
8
porphyria aip
8
causal relationships
8
ivw method
8
95% 108
8

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!