Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.

ABSTRACT: Background: Down syndrome (DS) is one of the most common chromosomal abnormalities associated with congenital heart defects (CHD), with approximately 40 to 60% of cases showing cardiac defects. This study assessed (i) the association between maternal LINE-1 methylation and the occurrence of CHDs in children with DS and (ii) the impact of endogenous maternal factors (MTHFR C677T polymorphism and maternal age) and exogenous maternal factors (cigarette smoking, alcohol intake, medication use, body mass index and dietary habits such as folate intake) on maternal LINE-1 methylation and on the occurrence of CHD in children with DS. Patients and Methods: The study included 90 mothers of children with DS of maternal origin (49% DS-CHD⁺ mothers/51% DS-CHD^-

SUBMITTER: Babic Bozovic I 

PROVIDER: S-EPMC6372553 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature