Get Adobe Flash player

ЗВ'ЯЗОК K121Q-ПОЛІМОРФІЗМУ ГЕНА ЕКТОНУКЛЕОТИД ПІРОФОСФАТАЗА/ФОСФОДІЕСТЕРАЗА 1 (ENPPI) З ГОСТРИМ КОРОНАРНИМ СИНДРОМОМ В ОСІБ РІЗНОЇ СТАТІ

Автор: Розуменко І. О. 

Сторінки: s38-s44

Анотація

         

Наведено результати вивчення K121Q поліморфізму гена ENPPI у 118 хворих на гострий коронарний синдром (ГКС) і 110 здорових індивідумів (контрольна група) різної статі. Встановлено, що немає зв'язку між статтю пацієнтів і розвитком ГКС залежно від генотипу за К121Q-поліморфізмом гена ЕNРР1.

Ключові слова: ектонуклеотид пірофосфатаза/фосфодіестераза 1, гострий коронарний синдром, поліморфізм генів.

Ця електронна адреса захищена від спам-ботів. вам потрібно увімкнути JavaScript, щоб побачити її.

 

Список літератури

  1. Johnson K, Goding J, Van Etten D, Sali A, Hu SI, Farley D, Krug H, et al. Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression. J Bone Miner Res.2003;18(6):994–1004.
  2. Ruf N, Uhlenberg B, Terkeltaub R, NurnbergP, Rutsch F. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with Generalized Arterial Calcification of Infancy (GACI). Human Mutation. 2005;26(5):495–496.
  3. Rutsch F, Vaingankar S, Johnson K, GoldfineI, Maddux B, Schauerte P, KalhoffH, et al. PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial сalcification. American Journal of Pathology. 2001;158(2):543–554.
  4. Glatz AC, Pawel BR, Hsu DT, Weinberg P, Chrisant MRK. Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediat Transplant. 2006; 10:225–233.
  5. Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, Nakamura K, et al. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum Genet. 1999;104(6):492–497.
  6. Pizzuti A, Frittitta L, Argiolas A, Baratta R,. Goldfine ID, Bozzali M, Ercolino T, et al. A p Diabetеs. 1999; 48(9):1881–1884.
  7. Bacci S, Ludovico O, Prudente S, Zhang Y-Y, Di Paola R, Mangiacotti D, Rauseo A, et al. The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier оnset of type 2 diabetes and myocardial infarction. Diabetеs. 2005; 54(10):3021–3025.
  8. Meyre D, Bouatia-Naji N, Vatin V, Veslot J, Samson C, Tichet J, Marre M, et al. ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study. Diabetologia. 2007;50:2090–2096.
  9. El Achhab Y, Meyre D, Bouatia-Naji N, Berraho M, Deweirder M, Vatin V, Delplanque J, et al. Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population. Diabetes Metab. 2009;35(1):37–42.
  10. Lee JE, Choi YK, Seo HA, Jeon JH, Jeong JY, Moon SS, Kim JG, et al. Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population.Diabetes Res Clin Pract. 2010;88(1):87–96.
  11. Cte N, El Husseini D, Pepin A, Guauque-Olarte S, Ducharme V, Bouchard-Cannon P, Audet A, Fournier D, et al.ATP acts as a survival signal and prevents the mineralization of aortic valve. J Mol Cell Cardiol. 2012;52(5):1191–202.
  12. Moehlecke M, Kramer KC, Cristiane B, KraheAL, Balbosco I, de Azevedo JM, Gross JL, Canani LH. ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients. Arq Bras Cardiol. 2010;94(2):157–161.
  13. Eller P, Schgoer W, Mueller T, Tancevski I, Demetz E, Duwensee K, Ritsch A, et al. The K121Q polymorphism of ENPP1 and peripheral arterial disease. Heart Vessels. 2008;23(2):104–107.
  14. Wang RQ, Zhou DH, Xi B, Ge XS, Zhu P, Wang B, Zhou MA, etal. ENPP1/PC-1 gene K121Q рolymorphism іs аssociated with оbesity in European аdult p Biomed Environ Sci. 2011;24(2):200–206.
  15. Gonzalez-Sanchez JL, Zabena C, Martinez-Larrad MT, Martinez-Calatrava MJ, Perez-Barba M, Serrano-Ríos M. Association of ENPP1 (PC-1) K121Q polymorphism with obesity-related parameters in subjects with metabolic syndrome. Clin Endocrinol. 2008;68(5):724
  16. Suk EK, Malkin I, Dahm S, Kalichman L, RufN, Kobyliansky E, Toliat M, et al. Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population. Arthritis Res Ther. 2005;7(5): R1082–1090.
  17. Baba T, Endo T, Sata F, Honnma H, KitajimaY, Hayashi T, Manase K, et al. Polycystic ovary syndrome is associated with genetic polymorphism in the insulin signaling gene IRS-1 but not ENPP1 in a Japanese population. Life Sci. 2007;81(10):850–854.
  18. Takahama Y, Uto H, Kanmura S, Oketani M, Ido A, Kusumoto K, Hasuike S, et al. Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan. J Gastroenterol. 2008;43(12):942–950.
  19. Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 g Am J Hum Genet. 2010;86(2):273–8.
  20. Braunwald E, Antman EM, Beasley JW, Califf RM, Cheitlin MD, Hochman JS, Jones RH, et al. ACC/AHA guidelinesfor the management of patients with unstable angina and non ST-elevation myocardial infarction: executive summary and recommendations. A report of the american college of cardiology. Circulation. 2000;102:1193–1209.
  21. Bertrand ME, Simoons ML, Fox KA, Wallentin LC, Hamm CW, McFadden E, De Feyter PJ, Specchia G, Ruzyllo W. Management of acute coronary syndromes in patients presenting without persistent ST-segment elevation. Eur Heart J. 2002;23:1809–1840.
  22. Chen MP, Chung FM, Chang DM, Tsai J, Huang HF, Shin SJ, Lee YJ. ENPP1 K121Q Polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese Population. Rev Diabet Stud. 2006;3(1):2130.