A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.

ABSTRACT:

Background

Myocardial infarction (MI) is a multifactorial disease caused by the suspension of blood circulation in a part of the myocardium. Understanding the genetic basis of MI can provide insight regarding the pathogenesis of the disease. The aim of this study was to investigate the association between pathogenic mutations and early-onset MI in five families with familial MI and without common MI risk factor.

Methods

Patients with MI younger than 50 years with family history of MI and without common diagnostic criteria (obesity, diabetes, familial hypercholesterolemia, opium/alcohol use) were evaluated for pathogenic mutations by whole exome sequencing (WES) and mutation was confirmed by polymerase chain reaction (PCR)-Sanger sequencing.

Results

The c.2855G > A mis

SUBMITTER: Ghorbani MJ 

PROVIDER: S-EPMC8172235 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature