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

https://doi.org/10.15789/1563-0625-AOP-1948

Abstract

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.

About the Authors

A. V. Shabaldin
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Shabaldin Andrey V., PhD, MD (Medicine), Leading Research Associate, Laboratory of Cell Technologies, Department of Experimental and Clinical Cardiology

650002, Kemerovo, Sosnovy blvd, 6
Phone: 7 (3842) 64-46-50



A. V. Tsepokina
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Junior Research Associate, Laboratory of Genomic Medicine, Department of Experimental and Clinical Cardiology

Kemerovo



S. A. Shmulevich
Research Institute for Complex Issues of Cardiovascular Diseases; Kemerovo L. Barbarash Cardiological Dispensary
Russian Federation

PhD (Medicine), Head, Pediatric Department, Kemerovo L. Barbarash Cardiological Dispensary; Department of Experimental and Clinical Cardiology, Research Associate, Laboratory of Cell Technologies, Research Institute for Complex Issues of Cardiovascular Diseases

Kemerovo



N. S. Deeva
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Laboratory Assistant, Laboratory of Cell Technologies, Department of Experimental and Clinical Cardiology

Kemerovo



A. V. Ponasenko
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

PhD (Medicine), Head, Laboratory of Genomic Medicine, Department of Experimental and Clinical Cardiology

Kemerovo



L. V. Antonova
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

PhD, MD (Medicine), Head, Laboratory of Cell Technologies, Department of Experimental and Clinical Cardiology

Kemerovo



E. V. Shabaldina
Kemerovo State Medical University
Russian Federation

PhD, MD (Medicine), Associate Professor, Head, Department of Otolaryngology and Clinical Immunology

Kemerovo



References

1. Bockeria L.A., Gudkova R.G. Cardiovascular Surgery – 2016. Diseases and congenital malformations of the circulatory system. Moscow, 2015. 226 p.

2. Kruchkova O.G., Golomidov A.V., Velikanova E.A., Grigoryev E.V. Crp and trem-1 as early markers of noninfectious systemic inflammatory response in preterm neonates. Meditsina v Kuzbasse = Medicine in the Kuzbass, 2016, Vol. 15, no. 3, pp. 27-33. (In Russ.)

3. Chepurnykh E.E., Grigoryev E.G. Congenital heart disease. Sibirskiy meditsinskiy zhurnal (Irkutsk) = Siberian Medical Journal (Irkutsk), 2014, Vol. 126, no. 3, pp. 121-127. (In Russ.)

4. Shvetsov Ya.D., Polonikov A.V. Molecular genetic aspects of congenital heart diseases. Nauchnoe soobshchestvo studentov XXI stoletiya estestvennye nauki = Scientific Community of Students of the XXI century Natural Sciences, 2012, no. 5, pp. 130-132. (In Russ.)

5. Aldasoro Arguinano A.A., Dadé S., Stathopoulou M., Derive M., Coumba Ndiaye N., Xie T., Masson C., Gibot S., Visvikis-Siest S. TREM-1 SNP rs2234246 regulates TREM-1 protein and mRNA levels and is associated with plasma levels of L-selectin. PLoS ONE, 2017, Vol. 12, no. 8, e0182226. doi:10.1371/journal.pone.0182226.

6. Carrasco K., Boufenzer A., Jolly L., le Cordier H., Wang G., Heck A.J., Cerwenka A., Vinolo E., Nazabal A., Kriznik A., Launay P., Gibot S., Derive M. TREM-1 multimerization is essential for its activation on monocytes and neutrophils. Cell. Mol. Immunol., 2019, Vol. 16, no. 5, pp. 460-472.

7. Chen Q., Zhou H., Wu S., Wang H., Lv C., Cheng B., Xie G., Fang X. Lack of association between TREM-1 gene polymorphisms and severe sepsis in a Chinese Han population. Hum. Immunol., 2008, Vol. 69, no. 3, pp. 220-226.

8. Erlebacher A. Immunology of the maternal-fetal interface. Annu. Rev. Immunol., 2013, Vol. 31, pp. 387-411.

9. Fahed A.C., Gelb B.D., Seidman J.G., Seidman C.E. Genetics of congenital heart disease: the glass half empty. Circ. Res., 2013, Vol. 112, no. 4, pp. 707-720.

10. Fan W., Li S., Huang Z,. Chen Q. Relationship between HLA-G polymorphism and susceptibility to recurrent miscarriage: a meta-analysis of non-family based studies. J. Assist. Reprod. Genet., 2014, Vol. 31, no. 2, pp. 173-184.

11. Golovkin A.S., Ponasenko A.V., Khutornaya M.V., Kutikhin A.G., Salakhov R.R., Yuzhalin A.E., Zhidkova I.I., Barbarash O.L., Barbarash L.S. Association of TLR and TREM-1 gene polymorphisms with risk of coronary artery disease in a Russian population. Gene, 2014, Vol. 550, no. 1, pp. 101-109.

12. Golovkin A.S., Ponasenko A.V., Yuzhalin A.E., Salakhov R.R., Khutornaya M.V., Kutikhin A.G., Rutkovskaya N.V., Savostyanova Y.Y., Barbarash L.S. An association between single nucleotide polymorphisms within TLR and TREM-1 genes and infective endocarditis. Cytokine, 2015, Vol. 71, no. 1, pp. 16-21.

13. Hosoda H., Tamura H., Kida S., Nagaoka I. Transcriptional regulation of mouse TREM-1 gene in RAW264. 7 macrophage-like cells. Life Sci., 2011, Vol. 89, no. 3-4, pp. 115-122.

14. Kusuma L., Dinesh S.M., Savitha M.R., Krishnamurthy B., Narayanappa D., Ramachandra N.B. A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India. Genet. Test. Mol. Biomarkers, 2011, Vol. 15, no. 7-8, pp. 483-487.

15. Kutikhin A.G., Ponasenko A.V., Khutornaya M.V., Yuzhalin A.E., Zhidkova I.I., Salakhov R.R., Golovkin A.S., Barbarash O.L., Barbarash L.S. Association of TLR and TREM-1 gene polymorphisms with atherosclerosis severity in a Russian population. Meta Gene, 2016, Vol. 9, pp. 76-89.

16. Li C., Li X., Pang S., Chen W., Qin X., Huang W., Yan B. Novel and functional DNA sequence variants within the GATA6 gene promoter in ventricular septal defects. Int. J. Mol. Sci., 2014, Vol. 15, no. 7, pp. 12677-12687.

17. Lim R., Barker G., Lappas M. TREM-1 expression is increased in human placentas from severe early-onset preeclamptic pregnancies where it may be involved in syncytialization. Reprod. Sci., 2014, Vol. 21, no. 5, pp. 562-572.

18. Meuleman T., Lashley L.E., Dekkers O.M., Lith J.M., Claas F.H., Bloemenkamp K.W. HLA associations and HLA sharing in recurrent miscarriage: A systematic review and meta-analysis. Hum. Immunol., 2015, Vol. 76, no. 5, pp. 362-373.

19. Mullins E.W.S. The maternal and fetal inflammatory response in normal pregnancy and fetal growth restriction: An ultrasound, flow-cytometry and immunoassay study. Imperial College London, 2014. Available at: https://spiral.imperial.ac.uk/handle/10044/1/25517.

20. Nguyen-Lefebvre A.T., Ajith A., Portik-Dobos V., Horuzsko D.D., Arbab A.S., Dzutsev A., Sadek R., Trinchieri G., Horuzsko A. The innate immune receptor TREM-1 promotes liver injury and fibrosis. J. Clin. Investig., 2018, Vol. 128, no. 11, pp. 4870-4883.

21. Oyama K., El-Nachef D., Zhang Y., Sdek P., MacLellan W.R. Epigenetic regulation of cardiac myocyte differentiation. Front. Genet., 2014, Vol. 5, 375. doi: 10.3389/fgene.2014.00375.

22. Richards A.A., Garg V. Genetics of congenital heart disease. Curr. Cardiol. Rev., 2010, Vol. 6, no. 2, pp. 91-97.

23. Robertson S.A., Prins J.R., Sharkey D.J., Moldenhauer L.M. Seminal fluid and the generation of regulatory T cells for embryo implantation. Am. J. Reprod. Immunol., 2013, Vol. 69, no. 4, pp. 315-330.

24. Robinson S.W., Morris C.D., Goldmuntz E., Reller M.D., Jones M.A., Steiner R.D., Maslen C.L. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am. J. Hum. Genet., 2003, Vol. 72, no. 4, pp. 1047-1052.

25. Su L., Liu C, Li C., Jiang Z., Xiao K., Zhang X., Li M., Yan P., Feng D., Xie L. Dynamic changes in serum soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) and its gene polymorphisms are associated with sepsis prognosis. Inflammation, 2012, Vol. 35, no. 6, pp. 1833-1843.

26. Vanden Berghe T., Linkermann A., Jouan-Lanhouet S., Walczak H., Vandenabeele P. Regulated necrosis: the expanding network of non-apoptotic cell death pathways. Nat. Rev. Mol. Cell. Biol., 2014, Vol. 15, no. 2, pp. 135-147.

27. Vandestienne M., Joffre J., Giraud A., Potteaux S., Laurans L., Tedgui A., Derive M., Mallat Z., Ait Oufella H. Exploring the role of TREM-1 receptor in experimental abdominal aortic aneurysm. Arch. Cardiovasc. Dis. Suppl., 2018. Vol. 10, Iss. 2, pp. 177-179.

28. Wang J., Luo X.-J., Xin Y.-F., Liu Y., Liu Z.-M., Wang Q., Yang Y.-Q. Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of Fallot. DNA Cell Biol., 2012, Vol. 31, no. 11, pp. 1610-1617.


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Shabaldin A.V., Tsepokina A.V., Shmulevich S.A., Deeva N.S., Ponasenko A.V., Antonova L.V., Shabaldina E.V. Association of polymorphisms the trigger receptor gene expressed by myeloid cells (TREM-1) in sporadic congenital heart defects without chromosome anomalies. Medical Immunology (Russia). 2020;22(3):505-518. (In Russ.) https://doi.org/10.15789/1563-0625-AOP-1948

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