PNPLA3 polymorphisms (rs738409) and non-alcoholic fatty liver disease risk and related phenotypes: a meta-analysis

Background and Aim One single‐nucleotide polymorphisms (SNPs) rs738409 in the patatin‐like phospholipase domain‐containing 3 gene (PNPLA3) has been implicated in susceptibility to non‐alcoholic fatty liver disease (NAFLD) across different populations. One meta‐analysis confirmed this association, but within it, only two Asian studies were included. This meta‐analysis aimed to investigate the association in Asian population. Methods All eligible case‐control studies were identified by searching through PubMed and Chinese language databases (CNKI and WanFang) up to July 1, 2014. Pooled estimates (odds ratio [OR] and standardized mean difference) were used to assess the strength of associations in fixed or random‐effects models. Results A total of 12 studies with 4495 cases and 7431 controls were included. SNP rs738409 G allele was confirmed as a risk factor for NAFLD (G allele vs C allele: OR = 1.92, 95% confidence interval [95%CI]: 1.54‐2.39). In addition, based on studies with certain clinical measurements data, G allele carriers were more likely to have higher level of serum alanine aminotransferase (ALT) (standard mean difference [SMD] = 7.03, 95% CI: 2.47‐11.60), and higher fibrosis score (SMD = 0.39, 95% CI: 0.18‐0.60). Conclusion This study provided evidence of SNP rs738409 G allele as a strong risk factor of NAFLD susceptibility and higher level of serum ALT in Asian population.