Background: The formation of the endocrinal cushion requires one of the members of the T-box transcription
factor family, namely Tbx2. Yet, we have scarce information about the potential association of TBX2 3′ untranslated
region (UTR) variations with congenital cardiac malformations. The aim of our study is the determination
of the relationship between single-nucleotide polymorphism (SNP) rs59382073 in TBX2 3′ UTR and
CHD susceptibility.
Methods: Venous blood samples were collected from 120 patients with CHD (encompassing 28 neonates, 72
infants, and 20 children) and additional 120 apparently healthy subjects and of matched age and sex. Genotyping
of TBX2 3′ UTR was performed using Step OnePlus PCR system using Taqman predesigned SNP assay
(rs59382073). The distribution of genotype and allele frequency in both the congenital heart diseases (CHD) and
the control groups were analysed.
Results: rs59382073 minor allele T carriers in TBX2 3′ UTR (homozygous TT and heterozygous GT subjects) had a
significantly higher risk of CHD compared to wild-type GG subjects (OR 5.7; 95% CI, 2.99–11.1; P < 0.001 and
OR 9.6; 95% CI, 3.1–29.6; P < 0.001), with the most likely subtypes being septal defect and conotruncal defects
(P < 0.001 each).
Conclusion: T allele carriers of rs59382073 in TBX2 3′ UTR had a greater risk of CHD than wild-type GG, septal
defect and conotruncal defects were more common in T allele carriers than wild-type GG.