MARC1 variant rs2642438 increases hepatic phosphatidylcholines and decreases severity of non-alcoholic fatty liver disease in humans

We read with great interest the review by Tr épo and Valenti on recent developments in genetics of NAFLD,1 which highlighted the need for further confirmation of the association between the rs2642438 (p.A165T) variant in the mitochondrial amidoxime reducing component 1 (MARC1) gene and liver disease risk. This missense variant was recently sh own to associate with protection from all-cause cirrhosis.2 MARC1 encodes for a molybdenum-containing enzyme in the outer mitochondrial membrane, which has reductive activity for N-hydroxylated compounds, e.g.

Source: Journal of Hepatology - May 25, 2020 Category: Gastroenterology Authors: Panu K. Luukkonen, Anne Juuti, Henna Sammalkorpi, Anne K. Penttil ä, Matej Orešič, Tuulia Hyötyläinen, Johanna Arola, Marju Orho-Melander, Hannele Yki-Järvinen Tags: Letter to the Editor Source Type: research