Single Nucleotide Polymorphisms Associated with Congenital Heart Defects in Down Syndrome: A Systematic Review

2026 Preprint Open access

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Authors: Chiranthi Rajapaksha
DOI: 10.17605/osf.io/mj2zg
Cited by: 0

Abstract

Congenital heart defects (CHD) are the most common congenital anomalies in individuals with Down syndrome (DS), yet considerable phenotypic variability exists. Genetic modifiers, including single nucleotide polymorphisms (SNPs), may contribute to CHD susceptibility beyond trisomy 21. Objective: To systematically review and synthesize evidence on SNPs associated with CHD in individuals with Down syndrome.

Fields of Study & Subjects

Down syndrome and intellectual disability research Congenital heart defects research Congenital Heart Disease Studies

Publication details

Publication date
1 January 2026
Language
EN
Document type
Preprint