rs738409
rs738409 is a C>G missense variant in PNPLA3 that substitutes methionine for isoleucine at amino-acid position 148 (Ile148Met) of the patatin-like phospholipase enzyme. The 148Met variant impairs the enzyme's triglyceride hydrolase activity on hepatocyte lipid droplets, causing fat accumulation in liver cells, and it is one of the most replicated common genetic risk factors for non-alcoholic fatty liver disease, steatohepatitis, and fibrosis progression, independent of BMI or alcohol use. It is used alongside TM6SF2 rs58542926 to characterize fatty-liver risk.
Traits rs738409 reads
Gene
Reference databases
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