Association between -799C/T single nucleotide polymorphism of the MMP‑8 promoter region and thoracic aortic dissection

Li,Yun; Li,Na; Ma,Wei; Jiang,Yuanzhu; Ma,Guoyuan; Zhang,Lin

doi:10.3892/mmr.2014.2437

Association between -799C/T single nucleotide polymorphism of the MMP‑8 promoter region and thoracic aortic dissection

Authors:
- Yun Li
- Na Li
- Wei Ma
- Yuanzhu Jiang
- Guoyuan Ma
- Lin Zhang
View Affiliations

Affiliations: Department of Thoracic Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China, Department of Urology, Shandong Zhangqiu People's Hospital, Jinan, Shandong 250200, P.R. China
Published online on: August 1, 2014 https://doi.org/10.3892/mmr.2014.2437
Pages: 1857-1862

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Thoracic aortic dissection (TAD) is a life‑threatening vascular condition, in which matrix metalloproteinases (MMPs) are involved. Since the key determinants underlying MMP action remain elusive, the present study investigated the correlation between single nucleotide polymorphisms (SNPs) in the promoter region of the MMP‑8 gene and a predisposition to TAD, by comparing genotypes of TAD patients and healthy controls. From 154 TAD patients and 148 healthy individuals, DNA samples were obtained from venous blood, and genotyping was performed by a combination of polymerase chain reaction and automatic sequencing to detect SNPs in the MMP‑8 promoter. Data were analyzed and odds ratios (OR) and 95% confidence intervals (CI) were calculated. P<0.05 was considered to indicate a statistically significant result. Two SNPs, ‑799C/T and ‑767A/T, were identified in the MMP‑8 promoter. Distribution of the ‑767A/T genotype was not significantly different between the patients and healthy controls. The ‑799C/C genotype was utilized as a match control, and significant differences in the genotypic distribution were observed between the patients with TAD and the controls. Furthermore, it was identified that the distribution of the ‑799C/T+T/T and ‑799C/C genotypes between the TAD and control populations was significantly different. The frequency of T allele distribution was higher in the TAD group (27%) than in the control group (13.5%). The genotype distribution followed the Hardy‑Weinberg equilibrium. In the present study, it was concluded that the ‑799C/T polymorphism in the promoter region of MMP‑8 may be associated with the development of TAD and that the T allele may increase patient predisposition to the disease.

View Figures

View References

1	Jones GT, Phillips VL, Harris EL, Rossaak JI and van Rij AM: Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm. J Vasc Surg. 38:1363–1367. 2003. View Article : Google Scholar : PubMed/NCBI
2	Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, et al: Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 36:855–860. 2004. View Article : Google Scholar : PubMed/NCBI
3	Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M and Byers PH: Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet. 69:989–1001. 2001. View Article : Google Scholar
4	Deguara J, Burnand KG, Berg J, et al: An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms. Hum Mol Genet. 16:3002–3007. 2007. View Article : Google Scholar : PubMed/NCBI
5	Jones GT, Phillips VL, Harris EL, Rossaak JI and van Rij AM: Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm. J Vasc Surg. 38:1363–1367. 2003. View Article : Google Scholar : PubMed/NCBI
6	Biddinger A, Rocklin M, Coselli J and Milewicz DM: Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 25:506–511. 1997. View Article : Google Scholar : PubMed/NCBI
7	Chen L, Wang X, Carter SA, Shen YH, Bartsch HR, Thompson W, Coselli JS, Wilcken DL, Wang XL and LeMaire SA: 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. 131:1045–1052. 2006.
8	Barbour JR, Spinale FG and Ikonomidis JS: Proteinase systems and thoracic aortic aneurysm progression. J Surg Res. 139:292–307. 2007. View Article : Google Scholar : PubMed/NCBI
9	Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS and Milewicz DM: Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24–25. Circulation. 107:3184–3190. 2003.PubMed/NCBI
10	Ikonomidis JS, Barbour JR, Amani Z, Stroud RE, Herron AR, McClister DM Jr, Camens SE, Lindsey ML, Mukherjee R and Spinale FG: Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms. Circulation. 112(Suppl): I242–248. 2005.PubMed/NCBI
11	Ishii T and Asuwa N: Collagen and elastin degradation by matrix metalloproteinases and tissue inhibitors of matrix metalloproteinase in aortic dissection. Hum Pathol. 31:640–646. 2000. View Article : Google Scholar : PubMed/NCBI
12	Sangiorgi G, Trimarchi S, Mauriello A, Righini P, Bossone E, Suzuki T, Rampoldi V and Eagle KA: Plasma levels of metalloproteinases-9 and -2 in the acute and subacute phases of type A and type B aortic dissection. J Cardiovasc Med (Hagerstown). 7:307–315. 2006. View Article : Google Scholar : PubMed/NCBI
13	Wilson WR, Anderton M, Schwalbe EC, Jones JL, Furness PN, Bell PR and Thompson MM: Matrix metalloproteinase-8 and -9 are increased at the site of abdominal aortic aneurysm rupture. Circulation. 113:438–445. 2006. View Article : Google Scholar : PubMed/NCBI
14	Zhang B, Ye S, Herrmann SM, Eriksson P, de Maat M, Evans A, Arveiler D, Luc G, Cambien F, Hamsten A, et al: Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation. 99:1788–1794. 1999. View Article : Google Scholar : PubMed/NCBI
15	González-Arriaga P, López-Cima MF, Fernández-Somoano A, Pascual T, Marrón MG, Puente XS and Tardón A: Polymorphism +17 C/G in matrix metalloprotease MMP8 decreases lung cancer risk. BMC Cancer. 8:3782008.PubMed/NCBI
16	Wagner S, Kluge B, Koziol JA, Grau AJ and Grond-Ginsbach C: MMP-9 polymorphisms are not associated with spontaneous cervical artery dissection. Stroke. 35:e62–64. 2004. View Article : Google Scholar : PubMed/NCBI
17	Lamblin N, Bauters C, Hermant X, Lablanche JM, Helbecque N and Amouyel P: Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease. J Am Coll Cardiol. 40:43–48. 2002. View Article : Google Scholar : PubMed/NCBI
18	Daily PO, Trueblood HW, Stinson EB, Wuerflein RD and Shumway NE: Management of acute aortic dissections. Ann Thorac Surg. 10:237–247. 1970. View Article : Google Scholar : PubMed/NCBI
19	Allaire E, Hasenstab D, Kenagy RD, Starcher B, Clowes MM and Clowes AW: Prevention of aneurysm development and rupture by local overexpression of plasminogen activator inhibitor-1. Circulation. 98:249–255. 1998. View Article : Google Scholar : PubMed/NCBI
20	Barbour JR, Spinale FG and Ikonomidis JS: Proteinase systems and thoracic aortic aneurysm progression. J Surg Res. 139:292–307. 2007. View Article : Google Scholar : PubMed/NCBI
21	Li Y, Shao AZ, Jiang HT, Dong GH, Xu B, Yi J and Jing H: The prominent expression of plasma matrix metalloproteinase-8 in acute thoracic aortic dissection. J Surg Res. 163:e99–104. 2010. View Article : Google Scholar : PubMed/NCBI
22	Noirey N, Staquet MJ, Gariazzo MJ, Serres M, André C, Schmitt D and Vincent C: Relationship between expression of matrix metalloproteinases and migration of epidermal and in vitro generated Langerhans cells. Eur J Cell Biol. 81:383–389. 2002. View Article : Google Scholar : PubMed/NCBI
23	Wang H, Parry S, Macones G, Sammel MD, Ferrand PE, Kuivaniemi H, Tromp G, Halder I, Shriver MD, Romero R, et al: Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM). Hum Mol Genet. 13:2659–2669. 2004. View Article : Google Scholar : PubMed/NCBI
24	Fleck TM, Koinig H, Czerny M, Hutschala D, Wolner E, Ehrlich M and Grabenwoger M: Impact of surgical era on outcomes of patients undergoing elective atherosclerotic ascending aortic aneurysm operations. Eur J Cardiothorac Surg. 26:342–347. 2004. View Article : Google Scholar
25	Birkedal-Hansen H, Moore WG, Bodden MK, Windsor LJ, Birkedal-Hansen B, DeCarlo A and Engler JA: Matrix metalloproteinases: a review. Crit Rev Oral Biol Med. 4:197–250. 1993.PubMed/NCBI
26	Medley TL, Cole TJ, Dart AM, Gatzka CD and Kingwell BA: Matrix metalloproteinase-9 genotype influences large artery stiffness through effects on aortic gene and protein expression. Arterioscler Thromb Vasc Biol. 24:1479–1484. 2004. View Article : Google Scholar