Роль полиморфных вариантов генов NOD2/CARD15, DLG5 и TLR4 при болезни Крона и неспецифическом язвенном колите
Аннотация
В обзоре представлены данные о влиянии полиморфных вариантов генов NOD2/CARD15, DLG5, TLR4 на риск развития заболевания, возраст манифестации, частоту осложнений, протяженность воспалительного процесса по длине кишечника при воспалительных заболеваниях кишечника.
Об авторах
Н. А. Малахинова
РГМУ
Россия
Россия
Малахинова Наталия Ардановна – аспирант
П. В. Шумилов
РГМУ
Россия
Россия
Шумилов Петр Валентинович – доцент
Ю. Г. Мухина
РГМУ
Россия
Россия
Мухина Юлия Григорьевна – д.м.н., проф., зав. кафедрой
Список литературы
1. Ивашкин В.Т. Ген болезни Крона: имеет ли он значение для современной клинической практики? / В.Т. Ивашкин // Рос. журн. гастроэнерол., гепатол., колопроктол.– 2004.–Том XIV, № 4.– С. 4–7.
2. Abreu М.Т. TLR Signaling in the Gut in healh and disease / М.Т. Abreu, F. Masauki, A. Moshe // The Journal of Immunology. – 2005. – 174:4453 – 4460.
3. Bianchi V. Association of NOD2/CARD15 mutations on Crohn′s disease phenotype in an Italian population / V. Bianchi, G. Maconi, S. Ardizzone // Eur J Gastroenterol Hepatol. – 2007. Mar; 19(3): 217-23.
4. Biank V. DLG5 R30Q variant is a femalespecific factor in pediatric onset Crohns disease / V. Biank, F. Friedrichs, U. Babusukumar // Am J Gastroenterol. – 2007. – Feb; 102(2): 391-8.
5. Bourma G, Strober W. The immunological and genetic basis of IBD / G. Bourma, W. Strober // Nature Rev. Immunol.– 2003. – Vol. 3. – P. 521–533.
6. Browning BL. Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohns disease and 4973 controls from Caucasian cohorts / B.L. Browning, V. Annese, M.L. Barclay J Med Genet. – 2008. – Jan; 45(1): 36-42.
7. Buning C. DLG5 variants in inflammatory bowel disease / C. Buning, L. Geerdts, T. Fiedler // Am J Gastroenterol. – 2006. – Apr; 101(4): 786-92.
8. Burning C. Nod2 gene polymorphism in patients with inflammatory bowel disease: is Hungary different? / C. Burning, Т. Molnar, Ferenc Nagy // World J Gastroenterol. – 2005. – 11 № 3. – Р. 407-411.
9. Cario Е. Bacterial interactions with cells of the intestinal mucosa: Toll-like receptors and NOD2 / Е. Cario // Gut. – 2005; 54: P.1182-1193.
10. Cukovic-Cavka S. NOD2/CARD15 mutations in Croatian patients with Crohn′s disease: prevalence and genotype-phenotype relationship / S. Cukovic-Cavka, S. Vermeire, I. Hrstic // Eur J Gastroenterol Hepatol. – 2006. – Aug; 18(8): 895-9.
11. McGovern D.P.B. Association between a complex insertion| deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease» / D.P.B. McGovern, P. Hysi, T. Ahmad // Human Molecular Genetics. – 2005. – Vol.14, №10. – P. 1245 –1250.
12. Figueroa C. NOD2, CARD 15 and Toll-like receptor gene polymorphism in Chilean patients with inflammatory bowel disease / C. Figueroa, A. Peralta, L. Herrera // Eur Cytokine Netw. –2006. – Jun; 17(2):125.
13. Hamre J. Association between insertion mutation in NOD2 gene and Crohns disease in German and British populations / J. Hamre, A. Cuthbert, P.J. Croucher // Lancet. – 2001; 357: 1925-1928.
14. Heimesaat M.M., A.Fischer, H-K Jahn. Exacerbation of murine ileitis by Toll-like receptor 4 mediated sensing of lipopolysaccharide from commensal Escherichia coli / M.M. Heimesaat, A. Fischer, H-K Jahn. // Gut. – 2007; 56: 941-948.
15. Heresbach D. NOD2/CARD15 gene polymorphisms in Crohn′s disease: a genotypephenotype analysis / D. Heresbach, V. GicquelDouabin, B. Birebent // Eur J Gastroenterol Hepatol. – 2004. – Jan; 16(1): 55-62.
16. Hugot J.P. Association of NOD2 leucinerich repeat variants with susceptibility to Crohns disease / J.P. Hugot, M. Chamaillard, H. Zouili // Nature. – 2001; 411: 599-603.
17. Lakastos P.L., S. Fisher, K. Claes. DLG5 R30Q is not associated with IBD in Hungarian IBD patients but predicts clinical response to steroids in Crohns disease / P.L. Lakastos, S. Fisher, K. Claes // Inflamm bowel disease. – 2006. – May; 12(5): 362-8.
18. Lala S. Crohns disease and the NOD2 gene: a role for paneth cells / S. Lala, Y. Ogura, C. Osborne // Gastroenterology. – 2003; 125: 47-57.
19. Lesage S. NOD2/CARD15 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease / S. Lesage, H. Zouali, JF. Colombel // Am J Hum Genet. – 2002. – Apr; 70(4): 845-57.
20. Leung E. Polymorphisms of CARD15 and CD14 genes in New Zeland Crohns disease patients / E. Leung, J. Hong, A. Fraser // Immunol. and Cell. Biol. –2005. – Vol. 83 №5, – P. 498–503.
21. Noble CL. DLG5 variants do not influence to inflammatory bowel disease in the Scottish population / CL Noble, ER Nimmo, H. Drummond // Gut. – 2005. - Oct; 54(10): 1416-20
22. Ogura Y. Frameshift mutation in NOD2 associated with susceptibility to Crohns disease / Y. Ogura, DK. Bonen, N.A. Inohara // Nature. - 2001; 411: 603-606.
23. Peltekova V.D. Functional variants of OCTN cation transporter genes are associated with Crohns disease / V.D. Peltekova, R.F. Wintle, L.A. Rubin // Nat Genet. - 2004; 36: 471-475.
24. Pierik М. Toll-like receptor –1, –2, –6 polymorphisms influence Disease extension in Inflamatory bowel disease. Inflamm / М. Pierik, S. Joossens, K. van Steen, Bowel Dis. –2006. – 12:1-8.
25. Stoll M. Genetic variation in DLG5 is associated with inflammatory bowel disease / M. Stoll, B. Corneliussen, CM. Costello // Nat Genet. - 2004; 36:476-480.
26. The molecular classification of the clinical manifestations of Crohns disease / T. Ahmad [et al.] // Gastroenterology. – 2002. – Vol. 122, P. 854 – 866.
27. The pattern of evolution and worldwide distribution of CARD15 variants as evidence for local selection pressure in the historic European populations / M. Nemeth [et al.] // Gastroenterology. – 2004.– Vol. 126 (suppl.2) : А351.
28. Tomer G. NOD2/CARD15 variants are associated with lower weight at diagnosis in children with Crohn′s disease / G. Tomer, C. Ceballos // Am J Gastroenterol. 2004 Jul; 99(7): autor reply 1402.
29. Toll-like receptor (TLR)4 polymorphism Asp299Gly is not associated with disease course in Dutch sarcoidosis patients / M. Veltkamp [at al.] // Clin. Exp. Immunol. – 2006, Aug. – Vol. 145(2): 215–8.
30. Weersma RK. Molecular prediction of disease risk and severity in large Dutch Crohn′s disease cohort / RK Weersma, PC Stokkers, van AA. Bodegraven / Gut. - 2008. - Sep.-р. 29.
Рецензия
Для цитирования:
Малахинова Н.А., Шумилов П.В., Мухина Ю.Г. Роль полиморфных вариантов генов NOD2/CARD15, DLG5 и TLR4 при болезни Крона и неспецифическом язвенном колите. Якутский медицинский журнал. 2010;(2):50-53.
For citation:
Malahinova N.A., Shumilov P.V., Mukhina J.G. Role of polymorphic variants of genes NOD2/CARD15, DLG5 and TLR4 at Crohn’s disease and nonspecific ulcerative colitis. Yakut Medical Journal. 2010;(2):50-53. (In Russ.)
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