<i>PNPLA3</i>-Ile148Met and <i>TM6SF2</i>-Glu167Lys increase susceptibility to metabolic dysfunction-associated steatotic liver disease in children.

3.3 Association between specific genotypes and MASLD susceptibility Stratified analysis by genotype further confirmed the association of key variants with MASLD ( Figure 1B , Table 2 ): For PNPLA3 -Ile148Met, the homozygous GG genotype and heterozygous GC genotype showed highly significant differences between the MASLD group and the control group (homozygous GG genotype: P_FDR<0.001, OR = 6.47; heterozygous GC genotype: P_FDR=0.007, OR = 0.43).

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Notably, while the allele frequency of PNPLA3 -Lys434Glu was significantly associated with MASLD risk ( Table 1 ), its genotype frequencies did not reach statistical significance ( Table 2 ), suggesting a potential dose-dependent effect that requires further validation. 3.4 Independent risk factors for pediatric MASLD To identify independent risk factors for pediatric MASLD, a multivariate logistic regression model was constructed incorporating the pre-specified genetic models for PNPLA3 -Ile148Met (recessive) and TM6SF2 -Glu167Lys (dominant), with adjustment for potential confounding factors including age, sex, and body mass index (BMI).

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