학술논문
A novel variant in LPL gene is associated with familial combined hyperlipidemia.
Document Type
Academic Journal
Author
Taghizadeh E; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Cellular and Molecular Research Center, Yasuj University of Medical Sciences, Yasuj, Iran.; Ghayour-Mobarhan M; Metabolic Syndrome Research Centre, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ferns GA; Department of Medical Education, Brighton and Sussex Medical School, Brighton, UK.; Pasdar A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Centre, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Division of Applied Medicine, Medical School, University of Aberdeen, Aberdeen, UK.
Source
Publisher: Ios Press Country of Publication: Netherlands NLM ID: 8807441 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8081 (Electronic) Linking ISSN: 09516433 NLM ISO Abbreviation: Biofactors Subsets: MEDLINE
Subject
Language
English
Abstract
Familial combined hyperlipidemia (FCHL) is a common genetic disorder characterized by increased fasted serum cholesterol, triglycerides, and apolipoprotein B-100. Molecular genetic techniques such as next generation sequencing have been very successful methods for rare variants finding with a moderate-to large effect. In this study, we characterized a large pedigree from MASHAD study in northeast Iran with coinheritance of FCHL and early-onset coronary heart disease. In this family, we used whole-exome sequencing and Sanger sequencing to determine the disease-associated gene. We identified a novel variant in the LPL gene, leading to a substitution of an asparagine for aspartic acid at position 151. The D151N substitution cosegregated with these characters in all affected family members in the pedigree but it was absent in all unaffected members in this family. We speculated that the mutation D151N in LPL gene might be associated with FCHL and early-onset coronary heart disease in this family. However, the substantial mechanism requires further investigation.
(© 2019 International Union of Biochemistry and Molecular Biology.)
(© 2019 International Union of Biochemistry and Molecular Biology.)