Роль полиморфизма генов в развитии различных вариантов острого и хронического панкреатита
Аннотация
Об авторах
В. Г. РаповкаРоссия
К. А. Заводов
Россия
О. А. Соболевская
Россия
И. А. Сарванов
Россия
Список литературы
1. Гальперин Э.И. Диагностика и хирургическое лечение пан-креонекроза // Хирургия. 2003. № 3. С. 55-59.
2. Ермолов А.С. Основные причины летальности при остром панкреатите в стационарах Москвы // Труды НИИ скорой помощи им. Н.В. Склифосовского. 2001. Т. 153. С. 4-14.
3. Корниенко Е.А., Ягупова А.А. Современные представления об этиологии хронического панкреатита и коррекции функциональной недостаточности поджелудочной железы // Вопросы современной педиатрии. 2012. Т. 11, № 4. С. 134-138.
4. Маев И.В., Кучерявый Ю.А. Болезни поджелудочной железы. Т. 2. М.: Медицина, 2008. 560 c.
5. Пугаев А.В. Острый панкреатит. М.: Профиль, 2007. 335 с.
6. Савельев В.С., Филимонов М.И., Гельфанд Б.Р., Бурневич С.З. Деструктивный панкреатит: алгоритм диагностики и лечения (проект) // Гастроэнтерология. 2001. Т. 3, № 6. С. 373-379.
7. Урсов С.В. Оптимизация диагностики и лечения панкреоне-кроза // Конгресс московских хирургов: неотложная и специализированная хирургическая помощь: тезисы докладов. М., 2005. С. 117-118.
8. Bank S., Marks I.N., Novis B. Sweat electrolytes in chronic pancreatitis // Am. J. Dig. Dis. 1978. Vol. 23, No. 2. P. 178-181.
9. Beger H.G., Rau B., Isenmann R. Natural history of necrotizing pancreatitis // Pancreatology. 2003. Vol. 3, No. 2. P. 93-101.
10. Bishop M.D., Freedman S.D., Zielenski J. [et al.]. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis // Hum. Genet. 2005. Vol. 118, No. 3-4. P. 372-381.
11. Chao Y.C., Chu H.C., Chang W.K. [et al.]. CD14 promoter polymorphism in Chinese alcoholic patients with cirrhosis of liver and acute pancreatitis // World J. Gastroenterol. 2005. Vol. 11, No. 38. P. 6043-6048.
12. Comfort M.W., Steinberg A.G. Pedigree of a family with hereditary chronic relapsing pancreatitis // Gastroenterology. 1952. Vol. 21, No. 1. P. 54-63.
13. Chen J.M., Mercier B., Ferec C. Strong evidence that the N21I substitution in the cationic trypsinogen gene causes disease in hereditary pancreatitis // Gut. 1999. Vol. 45, No. 6. P. 916.
14. Davis PB., Drumm M., Konstan M.W. Cystic fibrosis // Am. J. Resp. Crit. Care Med. 1996. Vol. 154, No. 5. P. 1229-1256.
15. Derikx M.H., Szmola R., de Morsche R.H. [et al.]. Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants // Eur. J. Gastroenterol. Hepatol. 2009. Vol. 21, No. 8. P. 889-894.
16. Del Rosario J.F., Putnam P.E., Orenstein D.M. Chronic pancreatitis in a patient with cystic fibrosis and clinical pancreatic insufficiency // J. Pediatr. 1995. Vol. 126, No. 6. P. 951-952.
17. De Madaria E., Martinez J., Sempere L. [et al.]. Cytokine genotypes in acute pancreatitis: association with etiology, severity, and cytokine levels in blood // Pancreas. 2008. Vol. 37, No. 3. P. 295-301.
18. Drenth J.P., de Morsche R., Jansen J.B. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis // Gut. 2002. Vol. 50, No. 5. P. 687-692.
19. Durie P.R. Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunction // Med. Clin. North Am. 2000. Vol. 84, No. 3. P. 609-620.
20. Felderbauer P, Hoffmann P, Einwachter H. [et al]. A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations // BMC Gastroenterol. 2003. Vol. 3. P. 34.
21. Hofner P., Balog A., Gyulai Z. [et al]. Polymorphism in the IL-8 gene, but not in the TLR4 gene, increases the severity of acute pancreatitis // Pancreatology. 2006. Vol. 6, No. 6. P. 542-548.
22. Hirota M., Ohmuraya M., Baba H. Genetic background of pancreatitis // Postgrad. Med. J. 2006. Vol. 82, No. 974. P. 775-778.
23. Howes N., Greenhalf W., Rutherford S. [et al]. A new polymorphism for the R122H mutation in hereditary pancreatitis // Gut. 2001. Vol. 48, No. 2. P. 247-250.
24. Kiraly O., Boulling A., Witt H. [et al]. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis // Hum. Mutat. 2007. Vol. 28, No. 5. P. 469-476.
25. LaRusch J., Whitcomb D.C. Genetics of pancreatitis // Curr. Opin. Gastroenterol. 2011. Vol. 27, No. 5. P 467-474.
26. Lee S.H., Ryu J.K., Jeong J.B. [et al]. Polymorphisms of the MCP-1 and HSP70-2 genes in Korean patients with alcoholic chronic pancreatitis // Dig. Dis. Sci. 2008. Vol. 53, No. 6. P. 1721-1727.
27. Le Bodic L., Bignon J.D., Raguenes O. [et al]. The hereditary pancreatitis gene maps to long arm of chromosome 7 // Hum. Mol. Genet. 1996. Vol. 5, No. 4. P. 549-554.
28. Le Bodic L., Schnee M., Georgelin T. [et al]. An exceptional genealogy for hereditary chronic pancreatitis // Dig. Dis. Sci. 1996. Vol. 41, No. 7. P. 1504-1510.
29. Le Marechal C., Bretagne J.F., Raguenes O. [et al]. Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1) // Mol. Genet. Metab. 2001. Vol. 74, No. 3. P. 342-344.
30. Lerch M.M., Mayerle J., Aghdassi A.A. [et al]. Advances in the etiology of chronic pancreatitis // Dig. Dis. 2010. Vol. 28, No. 2. P. 324-329.
31. Longnecker D.S. Pathology and pathogenesis of diseases of the pancreas // Am. J. Pathol. 1982. Vol. 107, No. 1. P. 99-121.
32. Masamune A., Kume K., Kikuta K. [et al]. -651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in Japan // J. Gastroenterol. 2010. Vol. 45, No. 2. P. 225-233.
33. Ockenga J., Stuhrmann M., Ballmann M. [et al]. Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis // Am. J. Gastroenterol. 2000. Vol. 95, No. 8. P. 2061-2067.
34. Özhan G., Yanar H.T., Ertekin C., Alpertunga B. Polymorphisms in tumour necrosis factor alpha (TNFalpha) gene in patients with acute pancreatitis // Mediators Inflamm. 2010. doi: 10.1155/2010/482950.
35. Paliwal S., Bhaskar S., Mani K.R. [et al.]. Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants // Gut. - 2013. Vol. 62, No. 11. P. 1602-1606.
36. Pearce S.H., Wooding C., Davies M. [et al.]. Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis // Clin. Endocrinol. (Oxf). 1996. Vol. 45, No. 6. P. 675-680.
37. Pfutzer R., Myers E., Applebaum-Shapiro S. [et al.]. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis // Gut. 2002. Vol. 50, No. 2. P. 271-272.
38. Racz G.Z., Kittel A., Riccardi D. [et al.]. Extracellular calcium sensing receptor in human pancreatic cells // Gut. 2002. Vol. 51, No. 5. P. 705-711.
39. Rahman S.H., Ibrahim K., Larvin M. [et al.]. Association of antioxidant enzyme gene polymorphisms and glutathione status with severe acute pancreatitis // Gastroenterology. 2004. Vol. 126, No. 5. P. 1312-1322.
40. Rahman S.H., Menon K.V., Holmfield J.H. [et al.]. Serum macrophage migration inhibitory factor is an early marker ofpancreatic necrosis in acute pancreatitis // Ann. Surg. 2007. Vol. 245, No. 2. P. 282-289.
41. Rahman S.H., Nanny C., Ibrahim K. [et al.]. Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress and impaired antioxidant capacity // Dig. Dis. Sci. 2005. Vol. 50, No. 7. P. 1376-1383.
42. Rahman S.H., Salter G., Holmfield J.H. [et al.]. Soluble CD14 receptor expression and monocyte heterogeneity but not the C-260T CD14 genotype are associated with severe acute pancreatitis // Crit. Care Med. 2004. Vol. 32, No. 12. P. 2457-2463.
43. Rebours V., Levy P., Ruszniewski P. An overview of hereditary pancreatitis // Dig. Liver Dis. 2012. Vol. 44, No. 1. P. 8-15.
44. Rosendahl J., Witt H., Szmola R. [et al.]. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis // Nat. Genet. 2008. Vol. 40, No. 1. P. 78-82.
45. Schneider A., Barmada M.M., Slivka A. [et al.]. Analysis of tumor necrosis factor-alpha, transforming growth factor-beta 1, interleukin-10, and interferon-gamma polymorphisms in patients with alcoholic chronic pancreatitis // Alcohol. 2004. Vol. 32, No. 1. P. 19-24.
46. Schneider A., Larusch J., Sun X. [et al.]. Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis // Gastroenterology. 2011. Vol. 140, No. 1. P. 162-171.
47. Shwachman H., Lebenthal E., Khaw K.T. Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes // Pediatrics. 1975. Vol. 55, No. 1. P. 86-95.
48. Srivastava P., Shafiq N., Bhasin D.K. [et al.]. Differential expression of heat shock protein (HSP) 70-2 gene polymorphism in benign and malignant pancreatic disorders and its relationship with disease severity and complications // JOP. 2012. Vol. 13, No. 4. P. 414-419.
49. Tukiainen E., Kylanpaa M.L., Puolakkainen P. [et al.]. Polymorphisms of the TNF, CD14, and HSPA1B genes in patients with acute alcohol-induced pancreatitis // Pancreas. 2008. Vol. 37, No. 1. P. 56-61.
50. Teich N., Le Marechal C., Kukor Z. [et al.]. Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) // Hum. Mutat. 2004. Vol. 23, No. 1. P. 22-31.
51. Threadgold J., GreenhalfW, Ellis I. [et al.]. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease // Gut. 2002. Vol. 50, No. 5. P. 675-681.
52. Truninger K., Witt H., Kock J. [et al.]. Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis // Am. J. Gastroenterol. 2002. Vol. 97, No. 5. P. 1133-1137.
53. Uhl W, Warshaw A., Imrie C. [et al.]. IAP Guidelines for the Surgical Management of Acute Pancreatitis // Pancreatology. 2002. Vol. 2, No. 6. P. 565-573.
54. Witt H., Luck W, Becker M. [et al.]. Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis // JAMA. 2001. Vol. 285, No. 21. P. 2716-2717.
55. Yang Z., Qi X., Wu Q. [et al.]. Lack of association between TNF-alpha gene promoter polymorphisms and pancreatitis: a metaanalysis // Gene. 2012. Vol. 503, No. 2. P. 229-234.
56. Zhou J., Sahin-Toth M. Chymotrypsin C mutations in chronic pancreatitis // J. Gastroenterol. Hepatol. 2011. Vol. 26, No. 8. P. 1238-1246.
Рецензия
Для цитирования:
Раповка В.Г., Заводов К.А., Соболевская О.А., Сарванов И.А. Роль полиморфизма генов в развитии различных вариантов острого и хронического панкреатита. Тихоокеанский медицинский журнал. 2018;(1):11-15. https://doi.org/10.17238/PmJ1609-1175.2018.1.11-15
For citation:
Rapovka V.G., Zavodov K.A., Sobolevskaya O.A., Sarvanov I.V. THE ROLE OF GENE POLYMORPHISM IN THE DEVELOPMENT OF VARIOUS VARIANTS OF ACUTE AND CHRONIC PANCREATITIS. Pacific Medical Journal. 2018;(1):11-15. (In Russ.) https://doi.org/10.17238/PmJ1609-1175.2018.1.11-15