GENETIC PREDICTORS OF SPORADIC CONGENITAL HEART DEFECTS IN CHILDREN

DOI: https://doi.org/10.29296/24999490-2022-01-09

A.V. Shabaldin, A.V. Tsepokina, S.A. Shmulevich, A.V. Ponasenko Federal State Budgetary Scientific Institution Research Institute for Complex Issues of Cardiovascular Diseases, Pine Boulevard, 6, Kemerovo, 650002, Russian Federation

Background. Congenital heart defects can be embryopathies formed due to an imbalance in the processes of differentiation and proliferation in cardiac progenitor cells. One of the reasons for these disorders may be genetically restricted signaling, including that induced through Toll-like receptors (TLRs). Aim. To study the predictors in the TLRs genes for congenital heart defects. Material and methods. 80 children (39 girls and 41 boys) with congenital heart defects requiring cardiac surgery were included in this study. The control group was formed from 96 healthy children. Four TLR genes were studied (TLR1 rs5743611, TLR1 rs5743551, TLR2 rs5743708, TLR2 rs3804099, TLR4 rs4986791, TLR4 rs4986790, TLR6 rs3775073 and TLR6 rs5743810). Genotyping was performed by real-time PCR using TaqMan probes. Results. This study showed that the combination of alleles in polymorphic sites of TLRs genes was statistically significant only for ventricular septal defects. The formation of ventricular septal defect is associated with homozygosity for the G allele in the TLR2 gene (rs5743708) and the T allele in the TLR6 gene (rs3775073).
Keywords: 
TLRs genes, congenital heart defects, ventricular septal defect
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