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

Wanqing Liu; Quentin M Anstee; Xiaoliang Wang; Samer Gawrieh; Eric R. Gamazon; Shaminie Athinarayanan; Yang-Lin Liu; Rebecca Darlay; Heather J Cordell; Ann K Daly; Chris P Day; Naga Chalasani

doi:doi:10.18632/aging.101067

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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 4. Summary of the difference in the role of gene transcription in PNPLA3^148M pathogenesis between human and mouse. Transcriptional variability of 148I isoform does not lead to hepatosteatosis. Very low expression of 148M isoform in mice due to the low baseline Pnpla3 expression does not induce steatosis as well. However, increased expression of PNPLA3^148M in mice or a higher baseline transcriptional level of PNPLA3^148M in humans leads to steatosis. This highlights the “dominant-negative” effect of the 148M allele in both species. Tg = transgenic, KO = knockout, KI = knockin.