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Updated: Feb 10, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Meta-analysis reveals a specific association of the PNPLA3 I148M polymorphism with ALT level in adolescents
Zhengtao Liu1,2,3, Huaijun Ning4, Xiaoyin He4
1Division of Hepatobiliary & Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Aim:
To evaluate potential link between the PNPLA3 rs738409 polymorphism and alanine aminotransferase (ALT) levels through an evidence-based study.
Materials & Methods:
Electronic literature databases, including PubMed, Embase and the Institute for Scientific Information, were searched for relevant studies. Pooling standardized mean differences for quantitative variables and summary odds ratios (OR) were respectively calculated using per-allele comparison.
Results:
Although a genotype-phenotype association was inconsistent in adults, this genetic effect was stable in adolescents. There was an approximate increase of 23% in ALT value, and 1.99-fold higher ALT elevation per risk allele increase with low heterogeneity.
Conclusion:
The PNPLA3 rs738409 polymorphism can have a differentiated influence on ALT level. Our meta-analysis provides reference data for the adjustment of diverse susceptibility due to the rs738409 polymorphism when evaluating liver injury in various populations.
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