Clinically silent LINE 1 insertion in the PNPLA3 gene may impede genotyping of the p.I148M variant

• Published in: Scientific reports Vol. 11; no. 1; pp. 20924 - 6
• Main Authors: Leníček, Martin, Šmíd, Václav, Pajer, Petr, Nazarova, Anna, Dvořák, Karel, Subhanová, Iva, Brůha, Radan, Vítek, Libor
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 22.10.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 631/337; 631/45; 692/4020; Acyltransferases - genetics; Alleles; Biological effects; Biopsy; Fatty liver; Genetic Predisposition to Disease - genetics; Genotype; Genotyping; Haplotypes; Hospitals; Humanities and Social Sciences; Humans; Insertion; Liver - pathology; Liver diseases; Long interspersed nucleotide elements; Long Interspersed Nucleotide Elements - genetics; multidisciplinary; Non-alcoholic Fatty Liver Disease - genetics; Nucleotide sequence; Pathophysiology; Phospholipases A2, Calcium-Independent - genetics; Polymorphism, Single Nucleotide - genetics; Science; Science (multidisciplinary)

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 1114 bp, localized in the second intron of the PNPLA3 gene,...