Research Paper Volume 9, Issue 1 pp 26—40

Transcriptional regulation of PNPLA3 and its impact on susceptibility to nonalcoholic fatty liver Disease (NAFLD) in humans

Figure 2. Regulatory role of rs139051 in PNPLA3 mRNA expression in human liver. (A-C) Correlations between rs139051 (p = 6.6×10-8, FDR < 0.05), rs2294918 (p = 2.4×10-7, FDR < 0.05) and rs738409 (p = 0.04, FDR > 0.05) genotypes and PNPLA3 gene expression. (D) The dependence of rs139051 and rs2294918 in association with PNPLA3 expression. No significant difference in gene expression between rs2294918 genotypes among the rs139051GG homozygous individuals was observed (ANOVA p = 0.3), while rs139051 was significantly associated with PNPLA3 gene expression among the GG homozygous individuals at the rs2294918 locus (ANOVA p = 0.006). (E) Association between rs139051-rs738409 diplotypes and gene expression. Significant difference was observed when compared 1/1 to 1/3, 1/4, 3/3 or 3/4 (t-test, p < 0.003 for all tests), and compared 1/2 to 1/3, 1/4, 3/3 or 3/4 (p < 0.05 for all tests). No significant difference between 1/3 and 1/4 or between 3/3 and 3/4 was observed (p > 0.05 for all tests). Horizontal bars indicate the mean values of mRNA expression.