Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease

Neurosurgery

Volumn 58, Issue 6, 2006, Pages 1074-1079

  Kang, Hyun Seung ^a   Kim, Seung Ki ^b,c   Cho, Byung Kyu ^b,c   Kim, Young Yim ^c   Hwang, Yong Seung ^b,c   Wang, Kyu Chang ^b,c  

^a Konkuk University Hospital   (South Korea)

^b Seoul National University   (South Korea)

^c Seoul National University Hospital   (South Korea)

Author keywords

Genes; Moyamoya disease; Single nucleotide polymorphism; Tissue inhibitor of metalloproteinases

Indexed keywords

TISSUE INHIBITOR OF METALLOPROTEINASE; TISSUE INHIBITOR OF METALLOPROTEINASE 2; TISSUE INHIBITOR OF METALLOPROTEINASE 4; TRANSCRIPTION FACTOR SP1;

ARTICLE; BINDING SITE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; EXON; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENOTYPE; HETEROZYGOSITY; HUMAN; INTRON; MALE; MOYAMOYA DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CYTOSINE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GUANINE; HETEROZYGOTE; HUMANS; INFANT; MALE; MOYAMOYA DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); TISSUE INHIBITOR OF METALLOPROTEINASE-2;

EID: 33745103349     PISSN: 0148396X     EISSN: None     Source Type: Journal    
DOI: 10.1227/01.NEU.0000215854.66011.4F     Document Type: Article

References (35)

1. Aoyagi M, Fukai N, Yamamoto M, Nakagawa K, Matsushima Y, Yamamoto K: Early development of intimal thickening in superficial temporal arteries in patients with moyamoya disease. Stroke 27:1750-1754, 1996.
2. Bendeck MP, Zempo N, Clowes AW, Galardy RE, Reidy MA: Smooth muscle cell migration and matrix metalloproteinase expression after arterial injury in the rat. Circ Res 75:539-545, 1994.
3. Birkedal-Hansen H: Proteolytic remodeling of extracellular matrix. Curr Opin Cell Biol 7:728-735, 1995.
4. Cheng L, Mantile G, Pauly R, Nater C, Felici A, Monticone R, Bilato C, Gluzband YA, Crow MT, Stetler-Stevenson W, Capogrossi MC: Adenovirus-mediated gene transfer of the human tissue inhibitor of metalloproteinase-2 blocks vascular smooth muscle cell invasiveness in vitro and modulates neointimal development in vivo. Circulation 98:2195-2201, 1998.
5. Clowes AW, Clowes MM, Kirkman TR, Jackson CL, Au YP, Kenagy R: Heparin inhibits the expression of tissue-type plasminogen activator by smooth muscle cells in injured rat carotid artery. Circ Res 70:1128-1136, 1992.
6. den Dunnen JT, Antomarakis E: Nomenclature for the description of human sequence variation. Hum Genet 109:121-124, 2001.
7. Dollery CM, Humphries SE, McClelland A, Latchman DS, McEwan JR: Expression of tissue inhibitor of matrix metalloproteinases 1 by use of an adenoviral vector inhibits smooth muscle cell migration and reduces neointimal hyperplasia in the rat model of vascular balloon injury. Circulation 99:3199-3205, 1999.
8. Dollery CM, McEwan JR, Wang M, Sang QA, Liu YE, Shi YE: TIMP-4 is regulated by vascular injury in rats. Circ Res 84:498-504, 1999.
9. Forough R, Koyama N, Hasenstab D, Lea H, Clowes M, Nikkari ST, Clowes AW: Overexpression of tissue inhibitor of matrix metalloproteinase-1 inhibits vascular smooth muscle cell functions in vitro and in vivo. Circ Res 79:812-820, 1996.
10. Furman C, Luo Z, Walsh K, Duverger N, Copin C, Fruchart JC, Rouis M: Systemic tissue inhibitor of metalloproteinase-1 gene delivery reduces neointimal hyperplasia in balloon-injured rat carotid artery. FEBS Lett 531:122-126, 2002.
11. George SJ, Baker AH, Angelini GD, Newby AC: Gene transfer of tissue inhibitor of metalloproteinase-2 inhibits metalloproteinase activity and neointima formation in human saphenous veins. Gene Ther 5:1552-1560, 1998.
12. Guo YH, Gao W, Li Q, Li PF, Yao PY, Chen K: Tissue inhibitor of metalloproteinases-4 suppresses vascular smooth muscle cell migration and induces cell apoptosis. Life Sci 75:2483-2493, 2004.
13. Hasenstab D, Forough R, Clowes AW: Plasminogen activator inhibitor type 1 and tissue inhibitor of metalloproteinases-2 increase after arterial injury in rats. Circ Res 80:490-496, 1997.
14. Hirano K, Sakamoto T, Uchida Y, Morishima Y, Masuyama K, Ishii Y, Nomura A, Ohtsuka M, Sekizawa K: Tissue inhibitor of metalloproteinases-2 gene polymorphisms in chronic obstructive pulmonary disease. Eur Respir J 18:748-752, 2001.
15. Hosoda Y: Pathology of so-called "spontaneous occlusion of the circle of Willis." Pathol Annu 19:221-244, 1984.
16. Hosoda Y, Ikeda E, Hirose S: Histopathological studies on spontaneous occlusion of the circle of Willis (cerebrovascular moyamoya disease). Clin Neurol Neurosurg 99 [Suppl 2]:203-208, 1997.
17. 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 64:533-537, 1999.
18. Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M: Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 15:179-182, 2000.
19. Jackson CL, Reidy MA: The role of plasminogen activation in smooth muscle migration after arterial injury. Ann N Y Acad Sci 667:141-150, 1992.
20. Johnson C, Galis ZS: Matrix metalloproteinase-2 and -9 differentially regulate smooth muscle cell migration and cell-mediated collagen organization. Arterioscler Thromb Vasc Biol 24:54-60, 2004.
21. Kim J, Kim SK, Wang KC, Kim HY, Jeong D: SEREX identification of the autoantibodies that are prevalent in the cerebrospinal fluid of patients with moyamoya disease. Biotechnol Lett 26:585-588, 2004.
22. Kim SK, Wang KC, Kim DG, Paek SH, Chung HT, Han MH, Ahn Y, Cho BK: Clinical feature and outcome of pediatric cerebrovascular disease: A neurosurgical series. Childs Nerv Syst 16:421-428, 2000.
23. Kim SK, Yoo JI, Cho BK, Hong SJ, Kim YK, Moon JA, Kim JH, Chung YN, Wang KC: Elevation of CRABP-1 in the cerebrospinal fluid of patients with moyamoya disease. Stroke 34:2835-2841, 2003.
24. Kono S, Oka K, Sueishi K: Histopathologic and morphometric studies of leptomeningeal vessels in moyamoya disease. Stroke 21:1044-1050, 1990.
25. Lamfers ML, Grimbergen JM, Aalders MC, Havenga MJ, de Vries MR, Huisman LG, van Hinsbergh VW, Quax PH: Gene transfer of the urokinase-type plasminogen activator receptor-targeted matrix metalloproteinase inhibitor TIMP-1.ATF suppresses neointima formation more efficiently than tissue inhibitor of metalloproteinase-1. Circ Res 91:945-952, 2002.
26. Letovsky J, Dynan WS: Measurement of the binding of transcription factor Sp1 to a single GC box recognition sequence. Nucleic Acids Res 17:2639-2653, 1989.
27. Lijnen HR, Soloway P, Collen D: Tissue inhibitor of matrix metalloproteinases-1 impairs arterial neointima formation after vascular injury in mice. Circ Res 85:1186-1191, 1999.
28. Ma H, Claderon TM, Kessel T, Ashton AW, Berman JW: Mechanism of hepatocyte growth factor-mediated vascular smooth muscle cell migration. Circ Res 93:1066-1073, 2003.
29. Paszkowiak JJ, Dardik A: Arterial wall shear stress: observations from the bench to the bedside. Vasc Endovasc Surg 37:47-57, 2003.
30. Reidy MA: A reassessment of endothelial injury and arterial lesion formation. Lab Invest 53:513-520, 1985.
31. 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 49:278-281, 2004.
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. Arteriolsclero Thromb Vasc Biol 19:1150-1155, 1999.
33. Sho E, Nanjo H, Sho M, Kobayashi M, Komatsu M, Kawamura K, Xu C, Zarins CK, Masuda H: Arterial enlargement, tortuosity, and intimal thickening in response to sequential exposure to high and low wall shear stress. J Vasc Surg 39:601-612, 2004.
34. Thompson JD, Gibson TJ, Plewniak F, Jeanmougin F, Higgins DG: The CLUSTAL_X windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res 25:4876-4882, 1997.
35. 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 31:930-935, 2000.