Abstract

Introduction. Congenital heart disease (CHD) is one of the most common fetal malformations resulting in high postnatal disability and mortality. Despite significant advances in the diagnosis and surgical correction of defects, the molecular genetic aspects of the pathogenesis of this disease are still not fully understood. TREM-1 key receptor for the innate immune response, inflammatory inducing and involved in the pathogenesis of acute and chronic diseases. Purpose. To determine genotype frequencies of the TREM-1 gene in children with congenital heart disease. Methods. 154 children with congenital heart disease were included in the study. Genomic DNA isolated from peripheral blood leukocytes was used as a material for the study. The genotyped were with RT-PCR by 8 loci (rs1817537, rs3804277, rs6910730, rs7768162, rs2234246, rs4711668, rs9471535, rs2234237). Results and conclusions. The C/C genotype of the rs2234246 polymorphism was more frequently found in the group of patients with ductus-independent CHD compared with the ductus-dependent CHD (38.2 % vs. 15.4 %, p = 0,006). The T/T genotype of the rs4711668 was more frequently detected in the ductus-independent CHD (24 % vs. 8 % p = 0.02). The study did not establish differences in the distribution of alleles and genotypes of the TREM-1 gene in patients with CHD and healthy children. At the same time, statistically significant differences in the distribution of genotypes of polymorphic rs2234246 and rs4711668 variants in groups of patients with ductus-dependent and ductus-independent blood circulation were obtained.

Highlights

  • most common fetal malformations resulting in high postnatal disability and mortality

  • 154 children with congenital heart disease were included in the study

  • Genomic DNA isolated from peripheral blood leukocytes was used as a material

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Summary

Introduction

Congenital heart disease (CHD) is one of the most common fetal malformations resulting in high postnatal disability and mortality. Недавние исследования демонстрируют роль гена TREM-1 в патогенезе и лечении сердечно-сосудистых заболеваний [7], в частности атеросклероза [8], инфекционного эндокардита [9] и некоторых других [10]. В ряде работ установлены ассоциативные связи полиморфных вариантов гена TREM-1 с предрасположенностью к развитию неонатальной смертности [11], болезни Альцгеймера [12], а также часть исследований направлена на изучение септических заболеваний [13]. Однако несмотря на распространенность публикаций об ассоциациях TREM-1 с различными заболеваниями, в литературных данных не встречается информации о влиянии гена TREM-1 на предрасположенность к развитию врожденных пороков сердца, что определяет необходимость проведения исследований в этом направлении.

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