Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India.

ABSTRACT:

Background

Congenital Heart diseases (CHDs) account for 1/3rd of all congenital birth defects. Etiopathogenesis of CHDs remain elusive despite extensive investigations globally. Phenotypic heterogeneity witnessed in this developmental disorder reiterate gene-environment interactions with periconceptional factors as risk conferring; and genetic analysis of both sporadic and familial forms of CHD suggest its multigenic basis. Significant association of de novo and inherited variants have been observed. Approximately 1/5th of CHDs are documented in the ethnically distinct Indian population but genetic insights have been very limited. This pilot case-control based association study was undertaken to investigate the status of Caucasian SNPs in a north Indian cohort.

Method

A tota

SUBMITTER: Kukshal P 

PROVIDER: S-EPMC10268439 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature