Quantitative digital pathology reveals association of cell-specific PNPLA3 transcription with NAFLD disease activity.

ABSTRACT:

Background & aims

The I148M variant (rs738409) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is by far the most important genetic determinant of non-alcoholic fatty liver disease (NAFLD). However, in the context of NAFLD, the transcriptional regulation of PNPLA3 in human liver cells is not known. In this study, we aimed to define the relationship between PNPLA3 transcription and disease characteristics of human NAFLD.

Methods

The abundance of PNPLA3 and collagen 1α (COL1α) transcripts was quantified in situ at single-cell resolution using RNAscope® in 87 patients with NAFLD. We examined the association of PNPLA3 and COL1α transcript levels with NAFLD disease severity, defined by histology.

Results

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SUBMITTER: Sandhu B 

PROVIDER: S-EPMC7001539 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature