Articles with "i148m variant" as a keyword



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Synergistic Associations of PNPLA3 I148M Variant, Alcohol Intake, and Obesity With Risk of Cirrhosis, Hepatocellular Carcinoma, and Mortality

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Published in 2022 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2022.34221

Abstract: This cohort study assesses the association of behavioral risk factors and genetic variants with risk of liver disease–related morbidity and mortality among middle-aged individuals. read more here.

Keywords: synergistic associations; pnpla3 i148m; mortality; risk ... See more keywords
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Clinically silent LINE 1 insertion in the PNPLA3 gene may impede genotyping of the p.I148M variant

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Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-00425-0

Abstract: The patatin-like phospholipase domain containing 3 (PNPLA3) gene (viz. its I148M variant) is one of the key players in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). We have identified a novel insertion/deletion variant of… read more here.

Keywords: insertion; pnpla3 gene; line insertion; i148m variant ... See more keywords