Association of a functional polymorphism in the MMP-3 gene with moyamoya disease in the Chinese Han population

Cerebrovascular Diseases

Volumn 30, Issue 6, 2010, Pages 618-625

  Li, Hao ^a   Zhang, Zheng Shan ^b   Liu, Wei ^a   Yang, Wei Zhong ^b   Dong, Zhen Nan ^c   Ma, Mai Juan ^a   Han, Cong ^b   Yang, Hong ^a   Cao, Wu Chun ^a   Duan, Lian ^b  

^a BEIJING INSTITUTE OF MICROBIOLOGY AND EPIDEMIOLOGY   (China)

^b Beijing 307 Hospital   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Matrix metalloproteinase; Moyamoya disease; Single nucleotide polymorphism; Tissue inhibitor of matrix metalloproteinases

Indexed keywords

COLLAGENASE 3; GELATINASE A; GELATINASE B; STROMELYSIN; TISSUE INHIBITOR OF METALLOPROTEINASE 2;

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MMP 3 GENE; MOYAMOYA DISEASE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHINA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; MALE; MATRIX METALLOPROTEINASE 3; MOYAMOYA DISEASE; ODDS RATIO; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 77957822120     PISSN: 10159770     EISSN: None     Source Type: Journal    
DOI: 10.1159/000319893     Document Type: Article

References (40)

1. Ikezaki K, Han DH, Kawano T, Kinukawa N, Fukui M: A clinical comparison of definite moyamoya disease between South Korea and Japan. Stroke 1997;28:2513-2517.
2. Yonekawa Y, Ogata N, Kaku Y, Taub E, Imhof HG: Moyamoya disease in Europe, past and present status. Clin Neurol Neurosurg 1997;99(suppl 2):S58-S60.
3. Chiu D, Shedden P, Bratina P, Grotta JC: Clinica l features of moyamoya disease in the United States. Stroke 1998;29:1347-1351.
4. Kuriyama S, Kusaka Y, Fujimura M, Wakai K, Tamakoshi A, Hashimoto S, Tsuji I, Inaba Y, Yoshimoto T: Prevalence and clinicoepidemiological features of moyamoya disease in Japan: findings from a nationwide epidemiological survey. Stroke 2008;39:42-47.
5. Fukui M, Kono S, Sueishi K, Ikezaki K: Moyamoya disease. Neuropathology 2000;20(suppl):S61-S64.
6. Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T: Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 1999;64:533-537.
7. Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M: Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 2000;15:179-182.
8. Sakurai K, Horiuchi Y, Ikeda H, Ikezaki K, Yoshimoto T, Fukui M, Arinami T: A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet 2004;49:278-281.
9. Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, Abe H, Inoue T, Ikezaki K, Matsushima T, Fukui M: Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 2000;31:930-935.
10. Kono S, Oka K, Sueishi K: Histopathologic and morphometric studies of leptomeningeal vessels in moyamoya disease. Stroke 1990;21:1044-1050.
11. Scott RM, Smith ER: Moyamoya disease and moyamoya syndrome. N Engl J Med 2009;360:1226-1237.
12. Masuda J, Ogata J, Yutani C: Smooth muscle cell proliferation and localization of macrophages and t cells in the occlusive intracranial major arteries in moyamoya disease. Stroke 1993;24:1960-1967.
13. Ross R: Atherosclerosis - an inflammatory disease. N Engl J Med 1999;340:115-126.
14. Badimon L: New challenges in the etiopathogenesis of atherothrombosis. Cerebrovasc Dis 2001;11(suppl 1):80-84.
15. Kang HS, Kim JH, Phi JH, Kim YY, Kim JE, Wang KC, Cho BK, Kim SK: Plasma matrix metalloproteinases, cytokines, and angiogenic factors in moyamoya disease. J Neurol Neurosurg Psychiatry 2010;81:673-678.
16. Fujimura M, Watanabe M, Narisawa A, Shimizu H, Tominaga T: Increased expression of serum matrix metalloproteinase-9 in patients with moyamoya disease. Surg Neurol 2009;72:476-480.
17. Price SJ, Greaves DR, Watkins H: Identification of novel, functional genetic variants in the human matrix metalloproteinase-2 gene: role of sp1 in allele-specific transcriptional regulation. J Biol Chem 2001;276:7549-7558.
18. Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM: Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem 1996;271:13055-13060.
19. Ye S: Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases. Matrix Biol 2000;19:623-629.
20. Zhang B, Ye S, Herrmann SM, Eriksson P, de Maat M, Evans A, Arveiler D, Luc G, Cambien F, Hamsten A, Watkins H, Henney AM: Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation 1999;99:1788-1794.
21. Yu C, Zhou Y, Miao X, Xiong P, Tan W, Lin D: Functional haplotypes in the promoter of matrix metalloproteinase-2 predict risk of the occurrence and metastasis of esophageal cancer. Cancer Res 2004;64:7622-7628.
22. Yoon S, Kuivaniemi H, Gatalica Z, Olson JM, Buttice G, Ye S, Norris BA, Malcom GT, Strong JP, Tromp G: MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males. Matrix Biol 2002;21:487-498.
23. Ye S: Influence of matrix metalloproteinase genotype on cardiovascular disease susceptibility and outcome. Cardiovasc Res 2006;69:636-645.
24. Kang HS, Kim SK, Cho BK, Kim YY, Hwang YS, Wang KC: Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease. Neurosurgery 2006;58:1074-1080.
25. Letovsky J, Dynan WS: Measurement of the binding of transcription factor Sp1 to a single GC box recognition sequence. Nucleic Acids Res 1989;17:2639-2653.
26. Fukui M: Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ('moyamoya' disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 1997;99(suppl 2):S238-S240.
27. Kang S, Zhao X, Xing H, Wang N, Zhou R, Chen S, Li W, Zhao J, Duan Y, Sun D, Li Y: Polymorphisms in the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 and the risk of human adenomyosis. Environ Mol Mutagen 2008;49:226-231.
28. Chen D, Wang Q, Ma ZW, Chen FM, Chen Y, Xie GY, Wang QT, Wu ZF: MMP-2, MMP-9 and TIMP-2 gene polymorphisms in Chinese patients with generalized aggressive periodontitis. J Clin Periodontol 2007;34:384-389.
29. Chen QJ, Lu L, Peng WH, Hu J, Yan XX, Wang LJ, Zhang Q, Zhang RY, Shen WF: Polymorphisms of MMP-3 and TIMP-4 genes affect angiographic coronary plaque progression in non-diabetic and type 2 diabetic patients. Clin Chim Acta 2009;405:97-103.
30. Lein M, Jung K, Laube C, Hubner T, Winkelmann B, Stephan C, Hauptmann S, Rudolph B, Schnorr D, Loening SA: Matrix-metalloproteinases and their inhibitors in plasma and tumor tissue of patients with renal cell carcinoma. Int J Cancer 2000;85:801-804.
31. Fatar M, Stroick M, Griebe M, Hennerici M: Matrix metalloproteinases in cerebrovascular diseases. Cerebrovasc Dis 2005;20:141-151.
32. Shi Y, Patel S, Niculescu R, Chung W, Desrochers P, Zalewski A: Role of matrix metalloproteinases and their tissue inhibitors in the regulation of coronary cell migration. Arterioscler Thromb Vasc Biol 1999;19:1150-1155.
33. Maqbool A, Turner NA, Galloway S, Riches K, O'Regan DJ, Porter KE: The-1562C/T MMP-9 promoter polymorphism does not predict MMP-9 expression levels or invasive capacity in saphenous vein smooth muscle cells cultured from different patients. Atherosclerosis 2009;207:458-465.
34. Gnasso A, Motti C, Irace C, Carallo C, Liberatoscioli L, Bernardini S, Massoud R, Mattioli PL, Federici G, Cortese C: Genetic variation in human stromelysin gene promoter and common carotid geometry in healthy male subjects. Arterioscler Thromb Vasc Biol 2000;20:1600-1605.
35. Rauramaa R, Vaisanen SB, Luong LA, Schmidt-Trucksass A, Penttila IM, Bouchard C, Toyry J, Humphries SE: Stromelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid artery atherosclerosis. Arterioscler Thromb Vasc Biol 2000;20:2657-2662.
36. Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
37. Wu N, Lu X, Hua Y, Song L, Ye J, Li J, Meng X, Gu D, Yang Y: Haplotype analysis of the stromelysin-1 (MMP3) and gelatinase B (MMP9) genes in relation to coronary heart disease. Ann Hum Genet 2009;73:404-410.
38. Okamoto K, Mimura K, Murawaki Y, Yuasa I: Association of functional gene polymorphisms of matrix metalloproteinase (MMP) - 1, MMP-3 and MMP-9 with the progression of chronic liver disease. J Gastroenterol Hepatol 2005;20:1102-1108.
39. Paez MT, Yamamoto T: Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease. Neurosurgery 2007;60:E582.
40. Suzuki J, Takaku A: Cerebrovascular 'moyamoya' disease. Disease showing abnormal net-like vessels in base of bra in. Arch Neurol 1969;20:288-299.