Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse

Journal of Heart Valve Disease

Volumn 12, Issue 4, 2003, Pages 475-481

  Chou, Hsiang Tai ^a   Shi, Yi Ru ^a   Hsu, Yuan ^a   Tsai, Fuu Jen ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; ELASTIN; FIBRILLIN; GUANINE; TYROSINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELASTIC FIBER; EXON; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MITRAL VALVE; MITRAL VALVE PROLAPSE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION MAPPING; RISK ASSESSMENT; TAIWAN;

ADOLESCENT; ADULT; AGED; BLOOD PRESSURE; BODY MASS INDEX; CASE-CONTROL STUDIES; ECHOCARDIOGRAPHY, DOPPLER, COLOR; EXONS; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MITRAL VALVE; MITRAL VALVE INSUFFICIENCY; MITRAL VALVE PROLAPSE; POLYMORPHISM, GENETIC; RISK FACTORS; SEVERITY OF ILLNESS INDEX; STATISTICS; TAIWAN;

EID: 0041560980     PISSN: 09668519     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Frable WJ. Mucinous degeneration of the cardiac valves: the "floppy valve" Syndrome. J Thorac Cardiovasc Surg 1969;58:62-70
2. Kern WH, Tucker BL. Myxoid changes in cardiac valves: Pathologic, clinical and ultrastructural studies. Am Heart J 1972;84:294-301
3. Baker PB, Boudoulas H, Wooley CF. The floppy mitral valve: Structural and physical characteristics. In Boudoulas H, Wooley CF (ed.) Mitral valve: floppy mitral valve, mitral valve prolapse, mitral valvular regurgitation. 2nd edn. Futura, Armonk, New York, 2000:115-142
4. Tamura K, Fukuda Y, Ishizaki M, Masuda Y, Yamanaka N, Ferrans VJ. Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve. Am Heart J 1995;129:1149-1158
5. Gibson MA, Kumaratilake JS, Cleary EG. The protein components of the 12-nanometer microfibrils of elastic and nonelastic tissues. J Biol Chem 1989;264:4590-4598
6. Maddox BK, Sakai LY, Keene DR, Glanville RW. Connective tissue microfibrils. J Biol Chem 1989;264:21381-21385
7. Jensen SA, Reinhardt DP, Gibson MA, Weiss AS. Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1. J Biol Chem 2001;276:39661-39666
8. Milewicz DM. Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. Curr Opin Cardiol 1998;13:198-204
9. Ewart AK, Jin W, Atkinson D, Morris CM, Keating MT. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 1994;93:1071-1077
10. Tan FK, Wang N, Kuwana M, et al. Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. Arthritis Rheum 2001;44:893-901
11. Collod-Beroud G, Beroud C, Ades L, et al. Marfan database (third edition): new mutations and new routines for the soft ware. Nucleic Acids Res 1998;26:229-233
12. Henry WL, DeMaria A, Gramiak R. Report of the American Society of Echocardiography committee on nomenclature and standards in 2D echocardiography. Circulation 1980;62:212-220
13. Weissman NJ, Pini R, Roman MJ, Kramer-Fox R, Andersen HS, Devereux RB. In vivo mitral valve morphology and motion in mitral valve prolapse. Am J Cardiol 1994;73:1080-1088
14. Malkowski MJ, Boudoulas H, Wooley CF, Guo R, Pearson AC, Gray PG. The spectrum of structural abnormalities in the floppy mitral valve echocardiographic evaluation. Am Heart J 1996;132:145-151
15. Miyatake K, Izumi S, Okamoto M, et al. Semiquantitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler flow imaging technique. J Am Coll Cardiol 1986;7:82-88
16. Barlow JB, Pocock WA, Marchand P, Denny M. The significance of late systolic murmur. Am Heart J 1963;66:443-452
17. Weiss AN, Mimbs JW, Ludbrook PA, Sobel BE. Echocardiographic detection of mitral valve prolapse, exclusion of false positive diagnosis and determination of inheritance. Circulation 1975;52:1091-1096
18. Devereux RB, Brown WT, Kramer-Fox R, Sachs I. Inheritance of mitral valve prolapse: Effect of age and sex on gene expression. Ann Intern Med. 1982;97:826-832
19. Henney AM, Tsipouras P, Schwartz RC, Child AH, Devereux RB, Leech GJ. Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse. Br Heart J 1989;61:292-299
20. Disse S, Abergel E, Berrebi A, et al. Mapping of a first locus for autosomal dominant myxomatous mitral valve prolapse to chromosome 16p11.2-p12.1. Am J Hum Genet 1999;65:1242-1251
21. Kyndt F, Schott JJ, Trochu JN, et al. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am J Hum Genet 1998;62:627-632
22. Devereux RB, Brown WT, Lutas EM, Kramer-Fox R, Laragh JH. Association of mitral valve prolapse with low body weight and low blood pressure. Lancet 1982;2:792-795
23. Boudoulas H. Mitral valve prolapse: Etiology, clinical presentation and neuroendocrine function. J Heart Valve Dis 1992;1:175-188
24. Zdrojewski TR, Wyrzykowski B, Krupa-Wojciechowska B. Renin-aldosterone regulation during upright posture in young men with mitral valve prolapse syndrome. J Heart Valve Dis 1995;4:236-241
25. Szombathy T, Janoskuti L, Szalai C, et al. Angiotensin II type 1 receptor gene polymorphism and mitral valve prolapse syndrome. Am Heart J 2000;139:101-105
26. 1166 polymorphism is not associated with mitral valve prolapse syndrome in Taiwan Chinese. Circ J 2002;66:163-166
27. Chou HT, Chen YT, Shi YR, Tsai FJ. Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral valve prolapse syndrome. Am Heart J 2003;145:169-173
28. 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
29. Lis Y, Burleigh MC, Parker DJ, Child AH, Hogg J, Davies MJ. Biochemical characterization of individual normal, floppy and rheumatic human mitral valves. Biochem J 1987;244:597-603
30. Oh MR, Kim JS, Beck NS, et al. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Pediatr Int 2000;42:488-491
31. Comeglio P, Evans AL, Brice GW, Child AH. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Hum Mutat 2001;18;546-547
32. Wang M, Mathews KR, Imaizumi K, et al. P1148A in fibrillin-1 is not a mutation anymore. (Letter) Nature Genet 1997;15:12
33. Guthrie RB, Edwards JE. Pathology of the myxomatous mitral valve: Nature, secondary changes and complications. Minn Med 1976;59:637-647
34. Ignotz R, Massague J. Transforming growth factor-β stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 1986; 261:4337-4345
35. Chou HT, Shi YR, Hsu Y, Tsai FJ. Lack of association between transforming growth factor-β1 gene polymorphism and mitral valve prolapse in Taiwan Chinese. J Heart Valve Dis 2002;11:478-484