Genotyping assays detecting variants associated with NAFLD and NASH

Strong association with and high prevalence of the PNPLA3 I148M (rs738409) variant in the general population, and especially high prevalence in Hispanic and Asian populations, make it an ideal candidate as a therapeutic target as well as a potential diagnostic test to identify individuals at increased risk of progression to late-stage liver disease. HSD17B13 has recently emerged as a target in its own right based on findings that particular variants are associated with reduced lipogenesis and therefore improved phenotype. Additional variants of PNPLA3, along with variants of HSD17B13, TM6SF2 and GCKR, have been shown to be associated with NAFLD and interact with the PNPLA3 I148M variant to promote or decrease the risk of disease progression.

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