Analytical Validation of Genotyping Assays Detecting Variants Associated with NAFLD and NASH

AALSD 2021 -- Large-scale, genome-wide association studies have revealed pathogenic genetic variants strongly associated with nonalcoholic fatty liver disease (NAFLD) and its progression to steatohepatitis (NASH) and cirrhosis. Strong association and high prevalence of the PNPLA3 I148M (rs738409) variant in general populations, especially in Hispanic and Asian populations, make it an ideal candidate as a therapeutic target. In addition, other variants from PNPLA3, TM6SF2, GCKR and HSD17B13 have also been shown to be associated with NAFLD and interact with the PNPLA3 I148M variant to promote or decrease its risk. A panel of robust genetic tests is much needed to identify appropriate patient cohorts for precision drug development and subsequent use in potential clinical practice. The aim of this study was the development and validation of 5-SNP genotyping panel (NASH genotyping panel) detecting germline variants associated with NAFLD and NASH.

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