Анализ вовлеченности генов предрасположенности к ишемической болезни сердца в реализацию сигнальных и метаболических путей

Обложка

Цитировать

Полный текст

Открытый доступ Открытый доступ
Доступ закрыт Доступ предоставлен
Доступ закрыт Только для подписчиков

Аннотация

Ишемическая болезнь сердца (ИБС) является распространенной патологией, и ее развитие опосредуется большим числом генетических факторов, факторов внешней среды и их комбинаций. В связи с этим задачей исследования явился биоинформационный анализ вовлеченности генов предрасположенности к ИБС в реализацию сигнальных и метаболических путей. Список генов предрасположенности был составлен при помощи баз данных GWAS, DisGeNET и GeneCards. Анализ обогащения путей проводился с использованием плагина ClueGO v2.5.9 Cytoscape v3.9.1. В результате проведенного исследования установлено, что данные гены вовлечены в реализацию различных механизмов развития ИБС, включая нарушения липидного метаболизма, изменения активности элементов системы комплемента, функции эндотелия. Наследственные факторы могут оказывать влияние на процессы регуляции тромбообразования, тонус сосудов, баланс про- и антиокислительных факторов, проницаемость эндотелия, адсорбцию воды и натрия, а также процессы ангиогенеза. При этом исследуемые гены могут быть вовлечены в реализацию одного либо нескольких сигнальных/метаболических путей.

Полный текст

Доступ закрыт

Об авторах

Н. Ю. Часовских

Сибирский государственный медицинский университет

Автор, ответственный за переписку.
Email: evgenika06@gmail.com
Россия, Томск, 634050

Е. Е. Шестакова

Сибирский государственный медицинский университет

Email: evgenika06@gmail.com
Россия, Томск, 634050

Список литературы

  1. Khan M.A., Hashim M.J., Mustafa H. et al. Global epidemiology of ischemic heart disease: Results from the global burden of disease study // Cureus. 2020. V. 12. № 7. https://doi.org/10.7759/cureus.9349
  2. Colditz G.A., Stampfer M.J., Willett W.C. et al. A prospective study of parental history of myocardial infarction and coronary heart disease in women // Am. J. Epidemiol. 1986. V. 123. P. 48–58. https://doi.org/10.1093/oxfordjournals.aje.a114223
  3. Lewis D., Wang Q., Topol E.J. Ischaemic heart disease // Nat. Encyclopedia Life Sciences. 2002. V. 10. P. 508–515.
  4. Shen G., Archacki S.R., Wang Q. The molecular genetics of coronary artery disease and myocardial infarction // Acute Coronary Syndrome. 2004. V. 6. P. 129–141. https://doi.org/10.1097/01.hco.0000160373.77190.f1
  5. Slack J., Evans K.A. The increased risk of death from ischaemic heart disease in first degree relatives of 121 men and 96 women with ischaemic heart disease // J. Med. Genet. 1966. V. 2. P. 239–257. https://doi.org/10.1136/jmg.3.4.239
  6. Wang Q., Pyeritz R.E. Molecular genetics of cardiovascular disease // Textbook of Cardiovascular Medicine. Edn 1. N. Y. Lippincott Williams & Wilkins, 2000. P. 1–12.
  7. Wang Q., Chen Q. Cardiovascular disease and congenital defects // Nat. Encyclopedia Life Sciences. 2000. V. 3. P. 646–657.
  8. Wang Q., Chen Q. Cardiovascular disease and congenital heart defects // Nat. Encyclopedia Human Genome. 2003. V. 1. P. 396–411.
  9. Wang Q. Molecular genetics of coronary artery disease // Curr. Opin. Cardiol. 2005. V. 20. № 3. P. 182–188. https://doi.org/10.1097/01.hco.0000160373.77190.f1
  10. MacArthur J., Bowler E., Cerezo M. et al. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) // Nucl. Ac. Res. 2017. V. 45. P. D896–D901. https://doi.org/10.1093/nar/gkw1133
  11. Pinero J., Bravo A., Rosinach N.Q. et al. DisGeNET: A comprehensive platform, integrating information on human disease-associated genes and variants // Nuc. Ac. Res. 2017. V. 45. P. D833–D839. https://doi.org/10.1093/nar/gkw943
  12. Safran M., Dalah I., Alexander J. et al. GeneCards version 3: The human gene integrator // Database (Oxford). 2010. https://doi.org/10.1093/database/baq020
  13. Bindea G., Mlecnik B., Hackl H. et al. ClueGO: A Cytoscape plug-into decipher functionally grouped gene ontology and pathway annotation networks // Bioinformatics. 2009. V. 25. № 8. P. 1091–1093. https://doi.org/10.1093/bioinformatics/btp101
  14. Kanehisa M., Goto S., Kawashima S., Nakaya A. The KEGG databases at GenomeNet // Nucl. Ac. Res. 2002. V. 30. № 1. P. 42–46. https://doi.org/10.1093/nar/30.1.42
  15. Fabregat A., Jupe S., Matthews L. et al. The reactome pathway knowledgebase // Nucl. Ac. Resh. 2018. V. 46. № D1. P. D649–D655. https://doi.org/10.1093/nar/gkx1132
  16. Tang W., Hu J., Zhang H. et al. Kappa coefficient: A popular measure of rater agreement // Shanghai Archives of Psychiatry. 2015. V. 27. № 1. P. 62–67. https://doi.org/10.11919/j.issn.1002-0829.215010
  17. Wilson P.W., DʹAgostino R.B., Levy D. et al. Prediction of coronary heart disease using risk factor categories // Circulation. 1998. V. 97. № 18. P. 1837–1847. https://doi.org/10.1161/01.cir.97.18.1837
  18. Zhang X., Sessa W.C., Fernandez-Hernando C. Endothelial transcytosis of lipoproteins in atherosclerosis // Front. Cardiovasc. Med. 2018. V. 5. https://doi.org/10.3389/fcvm.2018.00130
  19. Mehta D., Malik A.B. Signaling mechanisms regulating endothelial permeability // Physiol. Rev. 2006. V. 86. P. 279–367. https://doi.org/10.1152/physrev.00012.2005
  20. Rahimi N. Defenders and challengers of endothelial barrier function // Front. Immunol. 2017. V. 8. https://doi.org/10.3389/fimmu.2017.01847
  21. Fung K.Y.Y., Fairn G.D., Lee W.L. Transcellular vesicular transport in epithelial and endothelial cells: Challenges and opportunities // Traffic. 2018. V. 19. P. 5–18. https://doi.org/10.1111/tra.12533
  22. Лапунова Л.Л. Иммунологические изменения при некоторых заболеваниях сердечно-сосудистой системы // Мед, новости. 1996. № 11. С. 3–8.
  23. van Hinsbergh V.W. Endothelium-role in regulation of coagulation and inflammation // Semin. Immunopathol. 2012. V. 34. № 1. P. 93–106. https://doi.org/10.1007/s00281-011-0285-5
  24. Rajendran P., Rengarajan T., Thangavel J. et al. The vascular endothelium and human diseases // Int. J. Biol. Sci. 2013. V. 9. P. 1057–1069. https://doi.org/10.7150/ijbs.7502.
  25. Kirsch J., Schneider H., Pagel J.-I. et al. Endothelial dysfunction, and a prothrombotic, proinflammatory phenotype is caused by loss of mitochondrial thioredoxin reductase in endothelium // Arterioscler. Thromb. Vasc. Biol. 2016. V. 36. P. 1891–1899. https://doi.org/10.1161/ATVBAHA.116.307843
  26. Lin J., He S., Sun X. et al. MicroRNA-181b inhibits thrombin-mediated endothelial activation and arterial thrombosis by targeting caspase recruitment domain family member 10 // FASEB J. 2016. V. 30. P. 3216–3226. https://doi.org/10.1096/fj.201500163R
  27. Yau J.W., Singh K.K., Hou Y. et al. Endothelial-specific deletion of autophagy-related 7 (ATG7) attenuates arterial thrombosis in mice // J. Thorac. Cardiovasc. Surg. 2017. V. 154. P. 978–988. https://doi.org/10.1016/j.jtcvs.2017.02.058
  28. Wu Q., Hu Y., Jiang M. et al. Effect of autophagy regulated by sirt1/foxo1 pathway on the release of factors promoting thrombosis from vascular endothelial cells // Int. J. Mol. Sci. 2019. V. 20. https://doi.org/10.3390/ijms20174132
  29. Donegan R.K., Moore C.M., Hanna D.A., Reddi A.R. Handling heme: The mechanisms underlying the movement of heme within and between cells // Free Radic. Biol. Med. 2019. V. 133. P. 88–100. https://doi.org/10.1016/j.freeradbiomed.2018.08.005
  30. Gouveia Z., Carlos A.R., Yuan X. et al. Characterization of plasma labile heme in hemolytic conditions // FEBS J. 2017. V. 284. № 19. P. 3278–3301. https://doi.org/10.1111/febs.14192
  31. Sandoo A., van Zanten J.J., Metsios G.S. et al. The endothelium and its role in regulating vascular tone // Open Cardiovasc. Med. J. 2010. V. 4. P. 302–312. https://doi.org/10.2174/1874192401004010302
  32. Heathcote H.R., Lee M.D., Zhang X. et al. Endothelial TRPV4 channels modulate vascular tone by Ca2+ -induced Ca2+ release at inositol 1,4,5-trisphosphate receptors // Br. J. Pharmacol. 2019. V. 176. P. 3297–3317. https://doi.org/10.1111/bph.14762
  33. Gao W., Liu H., Yuan J. et al. Exosomes derived from mature dendritic cells increase endothelial inflammation and atherosclerosis via membrane TNF-alpha mediated NF-kappaB pathway // J. Cell. Mol. Med. 2016. V. 20. P. 2318–2327. https://doi.org/10.1111/jcmm.12923
  34. Herrero-Fernandez B., Gomez-Bris R., Somovilla-Crespo B., Gonzalez-Granado J.M. Immunobiology of atherosclerosis: A complex net of interactions // Int. J. Mol. Sci. 2019. V. 20. https://doi.org/10.3390/ijms20215293
  35. Marchio P., Guerra-Ojeda S., Vila J.M. et al. Targeting early atherosclerosis: A focus on oxidative stress and inflammation // Oxid. Med. Cell Longev. 2019. V. 2019. https://doi.org/10.1155/2019/8563845
  36. Nafisa A., Gray S.G., Cao Y. et al. Endothelial function and dysfunction: Impact of metformin // Pharmacol. Ther. 2018. V. 192. P. 150–162. https://doi.org/10.1016/j.pharmthera.2018.07.007
  37. Silva I.V.G., de Figueiredo R.C., Rios D.R.A. Effect of different classes of antihypertensive drugs on endothelial function and inflammation // Int. J. Mol. Sci. 2019. V. 20. https://doi.org/10.3390/ijms20143458
  38. Incalza M.A., DʹOria R., Natalicchio A. Oxidative stress and reactive oxygen species in endothelial dysfunction associated with cardiovascular and metabolic diseases // Vascul. Pharmacol. 2018. V. 100. P. 1–19. https://doi.org/10.1016/j.vph.2017.05.005
  39. Guagliardo N.A., Yao J., Hu C., Barrett P.Q. Mini review: Aldosterone biosynthesis: Electrically gated for our protection // Endocrinology. 2012. V. 153. № 8. P. 3579–3586. https://doi.org/10.1210/en.2012-1339
  40. Palatini P., Ceolotto G., Ragazzo F. et al. CYP1A2 genotype modifies the association between coffee intake and the risk of hypertension // J. Hypertens. 2009. V. 27. № 8. P. 1594–1601. https://doi.org/10.1097/HJH.0b013e32832ba850
  41. Li L., He M., Zhou L. et al. A solute carrier family 22 member 3 variant rs3088442 G→A associated with coronary heart disease inhibits lipopolysaccharide-induced inflammatory response // J. Biol. Chem. 2015. V. 290. № 9. P. 5328–5340. https://doi.org/10.1074/jbc.M114.584953
  42. Abrahao K.P., Salinas A.G., Lovinger D.M. Alcohol and the brain: Neuronal molecular targets, synapses, and circuits // Neuron. 2017. V. 96. № 6. P. 1223–1238. https://doi.org/10.1016/j.neuron.2017.10.032
  43. Pries A.R., Secomb T.W., Gaehtgens P. The endothelial surface layer // Pflug. Arch. 2000. V. 440. P. 653–666. https://doi.org/10.1007/s004240000307
  44. Buonassisi V. Sulfated mucopolysaccharide synthesis and secretion in endothelial cell cultures // Exp. Cell Res. 1973. V. 76. P. 363–368. https://doi.org/10.1016/0014-4827(73)90388-1
  45. Gerrity R.G., Richardson M., Somer J.B. et al. Endothelial cell morphology in areas of in vivo Evans blue uptake in the aorta of young pigs. II. Ultrastructure of the intima in areas of differing permeability to proteins // Am. J. Pathol. 1977. V. 89. P. 313–334.
  46. Baldwin A.L., Winlove C.P. Effects of perfusate composition on binding of ruthenium red and gold colloid to glycocalyx of rabbit aortic endothelium // J. Histochem. Cytochem. 1984. V. 32. P. 259–266. https://doi.org/10.1177/32.3.6198357
  47. Schnittler H.J. Structural and functional aspects of intercellula r junctions in vascular endothelium // Basic Res. Cardiol. 1998. V. 93. № 3. P. 30–39. https://doi.org/10.1007/s003950050205
  48. Lampugnani M.G. Endothelial cell-to-cell junctions: adhesion and signaling in physiology and pathology // Cold Spring Harb. Perspect. Med. 2012. V. 2. https://doi.org/10.1101/cshperspect.a006528
  49. Simionescu M., Simionescu N., Palade G.E. Segmental differentiations of cell junctions in the vascular endothelium. The microvasculature // J. Cell Biol. 1975. V. 67. P. 863–885. https://doi.org/10.1083/jcb.67.3.863
  50. Dejana E., Corada M., Lampugnani M.G. Endothelial cell-to-cell junctions // FASEB J. 1995. V. 9. P. 910–918. https://doi.org/10.1096/fasebj.9.10.7615160
  51. Simionescu M., Antohe F. Functional ultrastructure of the vascular endothelium: changes in various pathologies // The Vascular Endothelium I. Berlin; Heidelberg: Springer. 2006. P. 41–69. https://doi.org/10.1007/3-540-32967-6_2
  52. Boettner B., Van Aelst L. Control of cell adhesion dynamics by Rap1 signaling // Curr. Opin. Cell Biol. 2009. V. 21. P. 684–693. https://doi.org/10.1016/j.ceb.2009.06.004
  53. Shah N., Meira L.B., Elliott R.M. et al. DNA damage and repair in patients with coronary artery disease: Correlation with plaque morphology using optical coherence tomography (decode study) // Cardiovasc. Revasc. Med. 2019. V. 20. № 9. P. 812–818. https://doi.org/10.1016/j.carrev.2019.04.028
  54. Melincovici C.S., Boşca A.B., Şuşman S. et al. Vascular endothelial growth factor (VEGF) – key factor in normal and pathological angiogenesis // Rom. J. Morphol. Embryol. 2018. V. 59. № 2. P. 455–467.
  55. Adams J.C., Tucker R.P. The thrombospondin type 1 repeat (TSR) superfamily: Diverse proteins with related roles in neuronal development // Dev. Dyn. 2000. V. 218. № 2. P. 280–299. https://doi.org/10.1002/(SICI)1097-0177(200006) 218:2<280::AID-DVDY4>3.0.CO;2-0

Дополнительные файлы

Доп. файлы
Действие
1. JATS XML
Скачать

© Российская академия наук, 2024