Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk determinants

Vascular Pharmacology

Volumn 74, Issue , 2015, Pages 1-10

  Balistreri, Carmela Rita ^a  

^a UNIVERSITY OF PALERMO   (Italy)

Author keywords

Biomarkers; Genetic variants; Sporadic thoracic aortic aneurysms (TAA) and dissections; Targets for new personalized therapeutic treatments

Indexed keywords

ANGIOTENSIN II; COLLAGEN; ELASTIN; GELATINASE B; TOLL LIKE RECEPTOR 4; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1;

ABDOMINAL AORTA ANEURYSM; DNA POLYMORPHISM; ENDOTHELIAL DYSFUNCTION; EXTRACELLULAR MATRIX; GENETIC RISK; GENETIC SUSCEPTIBILITY; HEREDITY; HUMAN; INHERITANCE; INTRACELLULAR SIGNALING; MEDICAL ASSESSMENT; MEDICAL DECISION MAKING; NONHUMAN; ONSET AGE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW; SIGNAL TRANSDUCTION; SPORADIC THORACIC AORTA ANEURYSM; THORACIC AORTA ANEURYSM; VASCULAR SMOOTH MUSCLE CELL; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; RISK FACTOR;

AORTIC ANEURYSM, THORACIC; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; RISK FACTORS; SIGNAL TRANSDUCTION; TOLL-LIKE RECEPTOR 4;

EID: 84947611086     PISSN: 15371891     EISSN: 18793649     Source Type: Journal    
DOI: 10.1016/j.vph.2015.09.006     Document Type: Review

References (67)

1. Tromp G., Kuivaniemi H., Hinterseher I., Carey D.J. Novel genetic mechanisms for aortic aneurysms. Curr. Atheroscler. Rep. 2010, 12:259-266.
2. Lindsay M.E., Dietz H.C. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature 2011, 473:308-316.
3. Ruddy J.M., Jones J.A., Spinale F.G., Ikonomidis J.S. Regional heterogeneity within the aorta: relevance to aneurysm disease. J. Thorac. Cardiovasc. Surg. 2008, 136:1123-1130.
4. Erbel R., Aboyans V., Boileau C., Bossone E., Bartolomeo R.D., Eggebrecht H., et al. ESC committee for practice guidelines. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the Adult. The task force for the diagnosis and treatment of aortic diseases of the european society of cardiology (ESC). Eur. Heart J. 2014, 35:2873-2926.
5. Ruddy J.M., Jones J.A., Ikonomidis J.S. Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. Prog. Cardiovasc. Dis. 2013, 56:68-73.
6. Lindsay M.E., Dietz H.C. The genetic basis of aortic aneurysm. Cold Spring Harb. Perspect. Med. 2014, 4:a015909.
7. Saratzis A., Bown M.J. The genetic basis for aortic aneurysmal disease. Heart 2014, 100:916-922.
8. Golledge J., Kuivaniemi H. Genetics of abdominal aortic aneurysm. Curr. Opin. Cardiol. 2013, 28:290-296.
9. Bown M.J. Genomic insights into abdominal aortic aneurysms. Ann. R. Coll. Surg. Engl. 2014, 96:405-414.
10. Kuivaniemi H., Ryer E.J., Elmore J.R., Hinterseher I., Smelser D.T., Tromp G. Update on abdominal aortic aneurysm research: from clinical to genetic studies. Scientifica (Cairo) 2014, 2014:564734.
11. van de Luijtgaarden K.M., Heijsman D., Maugeri A., Weiss M.M., Verhagen H.J., IJpma A., et al. First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm. Hum. Genet. 2015, 134:881-893.
12. Gillis E., Van Laer L., Loeys B.L. Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility. Circ. Res. 2013, 113:327-340.
13. Jondeau G., Boileau C. Familial thoracic aortic aneurysms. Curr. Opin. Cardiol. 2014, 29:492-498.
14. Pomianowski P., Elefteriades J.A. The genetics and genomics of thoracic aortic disease. Ann. Cardiothorac. Surg. 2013, 2:271-279.
15. Elefteriades J.A., Pomianowski P. Practical genetics of thoracic aortic aneurysm. Prog. Cardiovasc. Dis. 2013, 56:57-67.
16. Wang W.J., Han P., Zheng J., Hu F.Y., Zhu Y., Xie J.S., et al. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. J. Mol. Med. (Berl.) 2013, 91:37-47.
17. El-Hamamsy I., Yacoub M.H. Cellular and molecular mechanisms of thoracic aortic aneurysms. Nat. Rev. Cardiol. 2009, 6:771-786.
18. Wu D., Shen Y.H., Russell L., Coselli J.S., Le Maire S.A. Molecular mechanisms of thoracic aortic dissection. J. Surg. Res. 2013, 184:907-924.
19. Serhatli M., Baysal K., Acilan C., Tuncer E., Bekpinar S., Baykal A.T. Proteomic study of the microdissected aortic media in human thoracic aortic aneurysms. J. Proteome Res. 2014, 13:5071-5080.
20. Bertoli-Avella A.M., Gillis E., Morisaki H., Verhagen J.M., de Graaf B.M., van de Beek G., et al. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J. Am. Coll. Cardiol. 2015, 65:1324-1336.
21. Brooke B.S., Habashi J.P., Judge D.P., Patel N., Loeys B., Dietz H.C. Angiotensin II blockade and aortic-root dilation in marfan's syndrome. N. Engl. J. Med. 2008, 358:2787-2795.
22. Newby A.C. Matrix metalloproteinase inhibition therapy for vascular Diseases. Vasc. Pharmacol. 2012, 56:232-244.
23. Chiu H.H., Wu M.H., Wang J.K., Lu C.W., Chiu S.N., Chen C.A., et al. Losartan added to β-blockade therapy for aortic root dilation in marfan syndrome: a randomized, open-label pilot study. Mayo Clin. Proc. 2013, 88:271-276.
24. Elefteriades J.A., Farkas E.A. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J. Am. Coll. Cardiol. 2010, 55:841-857.
25. Kuivaniemi H., Platsoucas C.D., Tilson M.D. Aortic aneurysms: an immune disease with a strong genetic component. Circulation 2008, 117:242-252.
26. Zhang X., Shen Y.H., Le Maire S.A. Thoracic aortic dissection: are matrix metalloproteinases involved?. Vascular 2009, 17(3):147-157.
27. Rabkin S.W. Differential expression of MMP-2, MMP-9 and TIMP proteins in thoracic aortic aneurysm - comparison with and without bicuspid aortic valve: a meta-analysis. Vasa 2014, 43:433-442.
28. Chen L., Wang X., Carter S.A., Shen Y.H., Bartsch H.R., Thompson R.W., et al. A single nucleotide polymorphism in the matrix metalloproteinase 9 gene (-8202A/G) is associated with thoracic aortic aneurysms and thoracic aortic dissection. J. Thorac. Cardiovasc. Surg. 2006, 131:1045-1052.
29. Lesauskaite V., Sinkunaite G., Benetis R., Grabauskas V., Vaskelyte J., Smalinskiene A., et al. Matrix metalloproteinase-3 gene polymorphism and dilatativa pathology of ascending thoracic aorta. Medicina (Kaunas) 2008, 44:386-391.
30. Kato K., Tokuda Y., Inagaki N., Yoshida T., Fujimaki T., Oguri M., et al. Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm. Int. J. Mol. Med. 2012, 29:125-132.
31. Wang X.L., Liu O., Qin Y.W., Zhang H.J., Lv Y. Association of the polymorphisms of MMP-9 and TIMP-3 genes with thoracic aortic dissection in Chinese Han population. Acta Pharmacol. Sin. 2014, 351-355.
32. Balistreri C.R., Pisano C., D'Amico T., Palmeri C., Candore G., Maresi E., et al. The role of inflammation in type A aortic dissection: data of a pilot study. Eur. J. Inflamm. 2013, 11:269-278.
33. Ruvolo G., Pisano C., Candore G., Lio D., Palmeri C., Maresi E., et al. Can the TLR-4-mediated signaling pathway be "a key inflammatory promoter for sporadic TAA"?. Mediat. Inflamm. 2014, 2014:349,476.
34. Jones J.A., Spinale F.G., Ikonomidis J.S. Transforming growth factor-beta signalling in thoracic aortic aneurysm development: a paradox in pathogenesis. J. Vasc. Res. 2009, 46:119-137.
35. Baas A.F., Medic J., van't Slot R., de Kovel C.G., Zhernakova A., Geelkerken R.H., et al. Association of the TGF-beta receptor genes with abdominal aortic aneurysm. Eur. J. Hum. Genet. 2010, 18:240-244.
36. Zuo S., Xiong J., Wei Y., Chen D., Chen F., Liu K., et al. Potential interactions between genetic polymorphisms of the transforming growth factor-β pathway and environmental factors in abdominal aortic aneurysms. Eur. J. Vasc. Endovasc. Surg. 2015, 50:71-77.
37. Scola L., Di Maggio F.M., Vaccarino L., Bova M., Forte G.I., Pisano C., et al. Role of TGF-β pathway polymorphisms in sporadic thoracic aortic aneurysm: rs900 TGF-β2 is a marker of differential gender susceptibility. Mediat. Inflamm. 2014, 2014:165758.
38. Moltzer E., Essers J., van Esch J.H., Roos-Hesselink J.W., Danser A.H. The role of the renin-angiotensin system in thoracic aortic aneurysms: clinical implications. Pharmacol. Ther. 2011, 131:50-60.
39. Rigat B., Hubert C., Alhenc-Gelas F., Cambien F., Corvol P., Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 1990, 86:1343-1346.
40. Kaur R., Das R., Ahluwalia J., Kumar R.M., Talwar K.K. Synergistic effect of angiotensin II type-1 receptor 1166A/C with angiotensin-converting enzyme polymorphism on risk of acute myocardial infarction in north Indians. J. Renin-Angiotensin-Aldosterone Syst. 2012, 13:440-445.
41. Song Y., Miao R., Wang H., Qin X., Zhang Y., Miao C., et al. Meta-analysis of the association between angiotensin-converting enzyme I/D polymorphism and aortic aneurysm risk. J. Renin-Angiotensin-Aldosterone Syst. 2014, pii: 1,470,320,314,545,557.
42. Huang L.G., Liu D.B., Wang H.Q. Angiotensin-converting enzyme I/D polymorphism and aortic aneurysm risk: a meta-analysis. Interact. Cardiovasc. Thorac. Surg. 2014, 19:782-787.
43. Pisano C., Maresi E., Balistreri C.R., Candore G., Merlo D., Fattouch K., et al. Histological and genetic studies in patients with bicuspid aortic valve and ascending aorta complications. Interact. Cardiovasc. Thorac. Surg. 2012, 14:300-306.
44. Silva P.S., Lacchini R., Gomes Vde A., Tanus-Santos J.E. Pharmacogenetic implications of the eNOS polymorphisms for cardiovascular action drugs. Arq. Bras. Cardiol. 2011, 96:e27-e34.
45. Ekmekçi A., Uluganyan M., Gu Ngör B., Abaci N., Ozcan K.S., Ertaş G., et al. Association between endothelial nitric oxide synthase intron 4a/b polymorphism and aortic dissection. Turk Kardiyol. Dern. Ars. 2014, 42:55-60.
46. He R., Guo D.C., Estrera A.L., Safi H.J., Huynh T.T., Yin Z., et al. Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections. J. Thorac. Cardiovasc. Surg. 2006, 131:671-678.
47. He R., Guo D.C., Sun W., Papke C.L., Duraisamy S., Estrera A.L., et al. Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. J. Thorac. Cardiovasc. Surg. 2008, 136:922-929.
48. van Bogerijen G.H., Tolenaar J.L., Grassi V., Lomazzi C., Segreti S., Rampoldi V., et al. Biomarkers in TAA-the Holy Grail. Prog. Cardiovasc. Dis. 2013, 56:109-115.
49. Frantz S., Ertl G., Bauersachs J. Mechanisms of disease: toll-like receptors in cardiovascular disease. Nat. Clin. Pract. Cardiovasc. Med. 2007, 4:444-454.
50. Balistreri C.R., Colonna-Romano G., Lio D., Candore G., Caruso C. TLR4 polymorphisms and ageing: implications for the pathophysiology of age-related diseases. J. Clin. Immunol. 2009, 29:406-415.
51. Balistreri C.R., Candore G., Accardi G., Colonna-Romano G., Lio D. NF-κB pathway activators as potential ageing biomarkers: targets for new therapeutic strategies. Immun. Ageing 2013, 10:24.
52. Ionita M.G., Arslan F., de Kleijn D.P., Pasterkamp G. Endogenous inflammatory molecules engage Toll-like receptors in cardiovascular disease. J. Innate Immun. 2010, 2:307-315.
53. Balistreri C.R., Candore G., Colonna-Romano G., Lio D., Caruso M., Hoffmann E., et al. Role of toll-like receptor 4 in acute myocardial infarction and longevity. J. Am. Med. Assoc. 2004, 292:2339-2340.
54. Balistreri C.R., Bonfigli A.R., Boemi M., Olivieri F., Ceriello A., Genovese S., et al. Evidences of +896 A/G TLR4 polymorphism as an indicative of prevalence of complications in T2DM patients. Mediat. Inflamm. 2014, 2014:973139.
55. Balistreri C.R., Candore G., Lio D., Carruba G. Prostate cancer: from the pathophysiologic implications of some genetic risk factors to translation in personalized cancer treatments. Cancer Gene Ther. 2014, 21:2-11.
56. Eissler R., Schmaderer C., Rusai K., Kühne L., Sollinger D., Lahmer T., et al. Hypertension augments cardiac Toll-like receptor 4 expression and activity. Hypertens. Res. 2011, 34:551-558.
57. Hofmann U., Ertl G., Frantz S. Toll-like receptors as potential therapeutic targets in cardiac dysfunction. Expert Opin. Ther. Targets 2011, 15:753-765.
58. Li H., Xu H., Liu S. Toll-like receptors 4 induces expression of matrix metalloproteinase-9 in human aortic smooth muscle cells. Mol. Biol. Rep. 2011, 38:1419-1423.
59. Song Y., Shen H., Schenten D., Shan P., Lee P.J., Goldstein D.R. Aging enhances the basal production of IL-6 and CCL2 in vascular smooth muscle cells. Arterioscler. Thromb. Vasc. Biol. 2012, 32:103-109.
60. Bucci M., Vellecco V., Harrington L., Brancaleone V., Roviezzo F., Mattace Raso G., et al. Cross-talk between toll-like receptor 4 (TLR4) and proteinase-activated receptor 2 (PAR(2)) is involved in vascular function. Br. J. Pharmacol. 2013, 168:411-420.
61. González-Ramos M., Calleros L., López-Ongil S., Raoch V., Griera M., Rodríguez-Puyol M., et al. HSP70 increases extracellular matrix production by human vascular smooth muscle through TGF-β1 up-regulation. Int. J. Biochem. Cell Biol. 2013, 45:232-242.
62. Pirianov G., Torsney E., Howe F., Cockerill G.W. Rosiglitazone negatively regulates c-Jun. N-terminal kinase and toll-like receptor 4 proinflammatory signalling during initiation of experimental aortic aneurysms. Atherosclerosis 2012, 225:69-75.
63. Navi A., Patel H., Shaw S., Baker D., Tsui J. Therapeutic role of toll-like receptor modification in cardiovascular dysfunction. Vasc. Pharmacol. 2013, 58:231-239.
64. Pryshchep O., Ma-Krupa W., Younge B.R., Goronzy J.J., Weyand C.M. Vessel-specific Toll-like receptor profiles in human medium and large arteries. Circulation 2008, 118:1276-1284.
65. Balistreri C.R., Maresi E., Pisano C., Di Maggio F.M., Vaccarino L., Caruso C., et al. Identification of three particular morphological phenotypes in sporadic thoracic aortic aneurysm: phenotype III as sporadic thoracic aortic aneurysm biomarker in aged individuals. Rejuvenation Res. 2014, 17:192-196.
66. Balistreri C.R., Pisano C., Merlo D., Fattouch K., Caruso M., Incalcaterra E., et al. Is the mean blood leukocyte telomere length a predictor for sporadic thoracic aortic aneurysm? Data from a preliminary study. Rejuvenation Res. 2012, 15:170-173.
67. Balistreri C.R., Pisano C., Martorana A., Triolo O.F., Lio D., Candore G., et al. Are the leukocyte telomere length attrition and telomerase activity alteration potential predictor biomarkers for sporadic TAA in aged individuals?. Age (Dordr.). 2014, 36:9700.