Association of polymorphisms the trigger receptor gene expressed by myeloid cells (<i>TREM-1</i>) in sporadic congenital heart defects without chromosome anomalies

• Main Authors: A. V. Shabaldin, A. V. Tsepokina, S. A. Shmulevich, N. S. Deeva, A. V. Ponasenko, L. V. Antonova, E. V. Shabaldina
• Format: Article
• Language: Russian
• Published: SPb RAACI 2020-05-01
• Series: Medicinskaâ Immunologiâ
• Subjects: trem-1; congenital heart defects; genetic polymorphism; inter-locus interactions
• Online Access: https://www.mimmun.ru/mimmun/article/view/1948
• ISSN: 1563-0625; 2313-741X

Eight polymorphic loci in the TREM-1 gene (rs1817537, rs3804277, rs6910730, rs7768162, rs2234246, rs4711668, rs9471535 and rs2234237) were genotyped in 131 children with congenital heart defects (CHD) without proven chromosomal anomalies, and 103 conditionally healthy children (control group) matched for age and gender. Genotyping was performed by polymerase chain reaction (PCR) using TaqMan probes. The frequency of these genotypes was checked for Hardy–Weinberg equilibrium using a free tool (http://bioinfo.iconcologia.net/SNPstats). Analysis of inter-locus interactions was performed by Multifactor Dimensionality Reduction method. It was shown that the combination of four loci, i.e., rs1817537, rs3804277, rs2234246 and rs7768162 may determine susceptibility and persistence for CHD without chromosomal diseases. Increased CHD risk is associated with two-locus model rs1817537*G/G – rs3804277*T/T (OR = 8.26) and three-locus model rs2234246*C/T – rs1817537*C/G – rs7768162*A/G (OR = 13.76). The two-locus model rs1817537*С/С – rs3804277*T/T (OR = 0.03) and three-locus model rs2234246*T/T – rs1817537*C/C – rs7768162*G/G (OR = 0.03) were associated with a decreased risk for CHD without detectable chromosomal anomalies.