Anjiotensin dönüştürücü enzim ve I/D polimorfizmi

Sebahat Turgut

doi:10.17343/sdutfd.68335

Anjiotensin dönüştürücü enzim ve I/D polimorfizmi

Öz

SüleymanDemirel Üniversitesi TIP FAKÜLTESİ DERGİSİ: 2005 Aralık; 12(4) Anjiotensin dönüştürücü enzim ve I/D polimorfizmi Sebahat Turgut Özet Renin-anjiotensin sisteminin kardiovasküler hastalıkların patogenezinde rolü bulunmaktadır ve kalp yetmezliği ile hipertansiyon tedavisinde kullanılan anjiotensin dönüştürücü enzim (ADE) inhibitörleri kardiovasküler sistemde ADE'nin önemli rolünü vurgulamaktadır. Bu yazı ile ADE ve I/D polimorfizmi bilgileri derlenmiştir. ADE, anjiotensin I'i kuvvetli bir vazokonstriktör olan anjiotensin II'e dönüştürür ve bradikininin etkinliğini azaltır. ADE geni insan 17.kromozomunda intron 16'da üç genotip olarak eksprese olur. Bu genotipler “insertion” ve “deletion” olarak isimlendirilen I ve D alelleridir. D aleli, koroner kalp hastalığı ve ventriküler hipertrofi gibi birçok patolojik durumun gelişme riskinde artışla ilişkilidir. D alelli homozigot kişiler birçok kardiak durumda kötü bir prognoza sahiptir. I aleli ise sporcularda dayanıklılık performanslarında artış ile ilişkilidir. Anahtar kelimeler: Anjiotensin dönüştürücü enzim, ADE I/D polimorfizmi, kardiovasküler hastalıklar Abstract Angiotensin Converting Enzyme and I/D Polymorphism The renin-angiotensin system plays a role in the pathogenesis of cardiovascular diseases and the efficacy of angiotensin converting enzyme (ACE) inhibitors in the treatment of hypertension and heart failure emphasize the prominent role of ACE in the cardiovascular system. This review aims to discuss angiotensin converting enzyme and I/D polymorphism. ACE converts angiotensin I to the potent vasoconstrictor angiotensin II and that degrades bradykinin. ACE gene is located on human chromosome 17 expressing three genotypes within the intron 16 of the related gene structure. These genotypes are classified as I and D alleles which are termed as insertion and deletion, respectively. The D allele has been associated with an increased risk of developing several pathological processes, such as coronary heart disease and ventricular hypertrophy. Several cardiac conditions appear to have a worse prognosis in subjects homozygous for the D allele, whereas the I allele has been associated with enhanced endurance performance in sportsmen. Key words: Angiotensin converting enzyme, ACE I/D polymorphism, cardiovascular diseases

Anahtar Kelimeler

Anjiotensin dönüþtürücü enzim, ADE I/D polimorfizmi, kardiovasküler hastalýklar

Kaynakça

Baudin B. New aspect on angiotensin-converting enzyme: from gene to disease. Clin Chem Lab Med 2002; 40: 256-65.
Soubrier F, Hubert C, Testut P, Nadaud S, Alhenc- Gelas F, Corvol P. Molecular biology of the angiotensin I converting enzyme, I: biochemistry and structure of the gene. J Hypertens 1993; 11: 471-6.
Pelc LR, Gross GJ, Warltier DC. Mechanisms of coronary vasodilatation produced by bradykinin. Circulation 1991; 83: 2048-56.
Baudin B, Berard M, Carrier JL, Legrand Y, Drouet L. Vascular origin determines angiotensin I-converting expression in endothelial cells. Endothelium 1997; 5: 73-84.
Rieder MJ, Taylor SL, Clark AG, Nickerson DA. Sequence variation in the human angiotensin converting enzyme. Nat Genet 1999; 22: 59-62.
Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. An insertion/deletion polymorphism in the angiotensin-1-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 1990; 86: 1343-6.
Prasad A, Narayanan S, Waclawiw MA, Epstein N, Quyyumi AA. The insertion/deletion polymorphism of the angiotensin-converting enzyme gene determines coronary vascular tone and nitric oxide activity. J Am Coll Cardiol 2000; 36: 1579-86.
Villard E, Soubrier F. Molecular biology and genetics of the angiotensin I-converting enzyme: potential implications in cardiovascular diseases. Cardiovasc Res 1996; 32: 999-1007.

Butler R, Morris AD, Burchell B, Struthers AD. DD angiotensin-converting enzyme gene polymorphism is associated with endothelial dysfunction in normal humans. Hypertension 1999; 33: 1164-8.
Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, et al. Deletion polymorphism in the gene for angiotensin converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 6414. 56
Marian AJ, Yu Q, Workman R, Greve G, Roberts R. Angiotensin converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet 1993; 342: 10856.
Butler R, Morris AD, Struthers AD. Angiotensin- converting enzyme gene polymorphism and cardiovascular disease. Clin Sci 1997; 93: 391-400.
Alvarez R, Reguero JR, Batalla A, Iglesias-Cubero G, Cortina A, Alvarez V, et al. Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphisms: association with early coronary disease. Cardiovasc Res 1998; 40: 375-9.
Alvarez R, Terrados N, Ortolano R, Iglesias-Cubero G, Reguero JR, Batalla A, et al. Genetic variation in the rennin-angiotensin system and athletic performance. Eur J Appl Physiol 2000; 82: 117-120.
Agerholm-Larsen B, Nordestgaard BG, Tybjaerg- Hansen A. ACE gene polymorphism in cardiovascular disease: meta-analyses of small and large studies in whites. Arterioscler Thromb Vasc Biol 2000; 20: 484- 92.
Akar N, Aras O, Omürlü K, Cin S. Deletion polymorphism at the angiotensin-converting enzyme gene in Turkish patients with coronary artery disease, Scandinavian Journal of Clinical and Laboratory Investigation 1998; 58: 491-5.
Candy GP, Skudicky D, Mueller U. Association of left ventricular systolic performance and cavity size with angiotensin-converting enzyme genotype in idiopathic dilated cardiomyopathy. Am J Cardiol 1999; 83: 7404.
Raynolds MV, Bristow MR, Bush EW. Angiotensin- converting enzyme DD genotype in patients with ischaemic or idiopathic dilated cardiomyopathy. Lancet 1993; 342: 10735.
Andersson B, Blange I, Sylven. Angiotensin-type 1 receptor gene polymorphism and long-term survival in patients with idiopathic chronic heart failure. Eur J Heart Fail 1 1999: 3639.
Barley J, Blackwood A, Carter ND. Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin. J Hypertension 1994; 12: 9557.
Foy CA, Rice GI, Ossey-Gerning N, Mansfield MW, Grant PJ. Angiotensin converting enzyme (ADE) gene polymorphisms in patients characterized by coronary angiography. Hum Genet 1997; 100: 420-5.
Bedir A, Arik N, Adam B, Kýlýnç K, Gümüþ T, Güner E. Angiotensin converting enzyme gene polymorphism and activity in Turkish patients with essential hypertension, American Journal of Hypertension 1999; 12: 1038-43.
ODonnell CJ, Lindpainter K, Larson MG, Ordovas JM, Myers RH, Levy D. The ACE deletion insertion polymorphism and hypertension: an association in the Framingham Heart Study (abstract). J Am Coll Cardiol 1997; 29 (suppl A): 84A.
Schmidt S, van Hooft IM, Grobbee DE, Ganten D, Ritz E. Polymorphism of the angiotensin I converting enzyme gene is apparently not related to high blood pressure. J Hypertens 1993; 11: 345-8.
Araz M, Aynacýoglu S, Aktaran S, Alaþehirli B, Okan V. Association between polymorphism of the angiotensin I converting enzyme gene and hypertension in Turkish type II diabetic patients, Acta Medica 2001; 44: 29-32.
Tiret L, Blanc H, Ruidavets JB, Arveiler D, Luc G, Jeunemaitre X, et al. Gene polymorphisms of the renin- angiotensin system in relation to hypertension and parental history of myocardial infarction and stroke. J Hypertens. 1998; 16: 37-44.
Schurmann M, Reichel P, Muller-Myhsok B, Dieringer T, Wurm K, Schlaak M, et al. Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis. J Intern Med 2001; 249: 77- 83.
Johnston CI. Tissue angiotensin converting enzyme in cardiac and vascular hypertrophy, repair, and remodeling. Hypertension 1994; 23: 25868.
Morishita R, Gibbons GH, Ellison KE. Evidence for direct local effect of angiotensin in vascular hypertrophy. In vivo gene transfer of angiotensin converting enzyme. J Clin Invest 1994; 94: 97884.
Cambien F, Costerousse O, Tiret L, Poirier O, Lecerf L, Gonzales MF, et al. Plasma level and gene polymorphism of angiotensin converting enzyme in relation to myocardial infarction. Circulation 1994; 90: 669-76.
Payne MN, Mc Donald F, Murray RG, Barlett WA. Plasma angiotensin-converting enzyme activity and carotid wall thickening (letter). Circulation 1994; 90: 2566.
Nomura H, Koni I, Michishita Y, Morise T, Takeda R. Angiotensin-converting enzyme gene polymorphism in haemodialysis patients. Lancet 1994; 343: 482.
Baudin B. Angiotensin I-converting enzyme gene polymorphism and drug response. Clin Chem Lab Med 2000; 38: 853-6.
Friedl W, Krempler F, Sandhofer F, Paulweber B. Insertion-deletion polymorphism in the angiotensin converting enzyme gene and blood pressure during ergometry in normal males. Clin Genet 1996; 50: 5414.
Montgomery HE, Clarkson P, Dollery CM, Prasad K, Losi AM, Hemingway H, et al. Association of Angiotensin-converting enzyme gene I/D polymorphism with change in left ventricular mass in response to physical training. Circulation 1997; 96: 741-7.
Lachurié ML, Azizi M, Guyene TT, Alhenc-Gelas F, Ménard J. Angiotensin-converting enzyme gene polymorphism has no influence on the circulating renin-angiotensin-aldeosterone system or blood pressure in normotensive subjects. Circulation 1995; 91: 293342.
Rankinen T, Wolfarth B, Simoneau JA, Maier-Lenz D, Rauramaa R, Rivera MA, et al. No association between the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status. J Appl Physiol 2000; 88: 1571-5.
Gayagay G, Yu B, Hambly B, Boston T, Hahn A, Celermajer DS, et al. Elite endurance athletes and the ADE I allele. The role of genesis in athletic performance. Hum Genet 1998; 103: 48-50.
Montgomery HE, Clarkson P, Barnard M, Bell J, Brynes A, Dollery C, et al. Angiotensin-converting enzyme gene insertion/deletion polymorphism and response to physical training. Lancet 1999; 353: 541-5.
Williams AG, Rayson MP, Jubb M, World M, Woods DR, Hayward M, et al. The ADE gene and muscle performance. Nature 2000; 403: 614.
Montgomery HE, Marshall RM, Hemingway H, Myerson S, Clarkson P, Dollery C, et al. Human gene for physical performance. Nature 1998; 393: 221-2.
Taylor RR, Mamotte CDS, Fallon K, Bockxmeer FM. Elite athletes and the gene for angiotensin-converting enzyme. J Appl Physiol 1999; 87: 1035-7.
Nazarov IB, Woods DR, Montgomery HE, Shneider OV, Kazakov VI, Tomilin NV, et al. The angiotensin converting enzyme I/D polymorphism in Russian athletes. Eur J Hum Genet 2001; 9: 797-801.
Turgut G, Turgut S, Genç O, Atalay A, Atalay EÖ. The Angiotensin Converting Enzyme I/D Polymorphism In Turkish Athletes And Sedentary Controls. Acta Medica 2004; 47: 133-6.

Ayrıntılar

Birincil Dil

İngilizce

Konular

-

Bölüm

-

Yazarlar

Sebahat Turgut Bu kişi benim

Yayımlanma Tarihi

16 Nisan 2009

Gönderilme Tarihi

16 Nisan 2009

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2005 Cilt: 12 Sayı: 4

DOI

https://doi.org/10.17343/sdutfd.68335

IZ

https://izlik.org/JA99WG22PP

Kaynak Göster

RIS / Bibtex

APA

Turgut, S. (2009). Anjiotensin dönüştürücü enzim ve I/D polimorfizmi. Medical Journal of Süleyman Demirel University, 12(4), 53-57. https://doi.org/10.17343/sdutfd.68335

AMA

1.Turgut S. Anjiotensin dönüştürücü enzim ve I/D polimorfizmi. SDÜ Tıp Fak Derg. 2009;12(4):53-57. doi:10.17343/sdutfd.68335

Chicago

Turgut, Sebahat. 2009. “Anjiotensin dönüştürücü enzim ve I/D polimorfizmi”. Medical Journal of Süleyman Demirel University 12 (4): 53-57. https://doi.org/10.17343/sdutfd.68335.

EndNote

Turgut S (01 Nisan 2009) Anjiotensin dönüştürücü enzim ve I/D polimorfizmi. Medical Journal of Süleyman Demirel University 12 4 53–57.

IEEE

[1]S. Turgut, “Anjiotensin dönüştürücü enzim ve I/D polimorfizmi”, SDÜ Tıp Fak Derg, c. 12, sy 4, ss. 53–57, Nis. 2009, doi: 10.17343/sdutfd.68335.

ISNAD

Turgut, Sebahat. “Anjiotensin dönüştürücü enzim ve I/D polimorfizmi”. Medical Journal of Süleyman Demirel University 12/4 (01 Nisan 2009): 53-57. https://doi.org/10.17343/sdutfd.68335.

JAMA

1.Turgut S. Anjiotensin dönüştürücü enzim ve I/D polimorfizmi. SDÜ Tıp Fak Derg. 2009;12:53–57.

MLA

Turgut, Sebahat. “Anjiotensin dönüştürücü enzim ve I/D polimorfizmi”. Medical Journal of Süleyman Demirel University, c. 12, sy 4, Nisan 2009, ss. 53-57, doi:10.17343/sdutfd.68335.

Vancouver

1.Sebahat Turgut. Anjiotensin dönüştürücü enzim ve I/D polimorfizmi. SDÜ Tıp Fak Derg. 01 Nisan 2009;12(4):53-7. doi:10.17343/sdutfd.68335