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LEFTY2 – Congenital Heart Disease

In a Pakistani case-control cohort, six LEFTY2 single nucleotide polymorphisms were genotyped in 376 children with congenital heart defects to evaluate associations with CHD subtypes and maternal comorbidities ([PMID:37097539]). The rs703752 risk allele showed a significant association with tetralogy of Fallot, while rs2295418 was strongly linked to maternal hypertension (OR 16.41 ([PMID:37097539]), p = 0.003). A weaker association was observed between rs360057 and maternal diabetes, but findings lack independent replication. No rare coding LEFTY2 variants have been described in CHD pedigrees, and there are no published functional studies directly implicating LEFTY2 in cardiac development.

Key Take-home: Common LEFTY2 variants may modulate CHD risk in specific phenotypes, but current evidence is insufficient for clinical diagnostic application.

References

  • Molecular biology reports • 2023 • Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population [PMID:37097539]

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single case-control study in 376 subjects with SNP associations without replication or segregation ([PMID:37097539])

Genetic Evidence

Limited

Only common SNP associations reported; no rare pathogenic variants or familial segregation

Functional Evidence

No evidence

No functional studies implicating LEFTY2 in congenital heart disease