Abstract :
Background: Congenital heart disease (CHD) and hypospadias are common developmental anomalies with both affecting approximately 1% of neonates. Emerging data suggest these conditions often co-occur, hinting at shared genetic pathways. This review evaluates the role of GATA4, a transcription factor implicated in both cardiac and urogenital development, and its polymorphisms in the joint risk of CHD and hypospadias, with a focus on evidence relevant to South Asian and Indian populations.Materials and Methods: We conducted a comprehensive literature search (PubMed/Google Scholar) for studies on GATA4 variants, hypospadias, and CHD, including functional assays and epidemiological association studies.Results: Several GATA4 polymorphisms—especially rs12458, rs1139244, and c.620C>T—have been associated with either hypospadias or CHD in diverse populations.Discussion and ConclusionA single Chinese cohort reported rs12458’s association with hypospadias (OR 1.42)?[6], while rs1139244 was linked to CHD in Chinese children (OR 1.33)?[8], and c.620C>T was noted in South Indian CHD cases?[7]. Functional assays confirm that these variants modulate GATA4 expression or activity in vitro.GATA4 polymorphisms potentially bridge cardiac and urogenital developmental defects. Future case-control studies in Indian populations could elucidate these associations and enable targeted screening strategies.
Keyword :
Congenital heart disease, Developmental anomalies, Hypospadias, GATA4 polymorphism, South Asian population