DOI: 10.25881/BPNMSC.2019.57.42.011

Authors

Khokhlov A.L., Rybachkov V.V., Bereznyak N.V.

Yaroslavl State Medical University, Yaroslavl

Abstract

The frequency of two CARD15 / NOD2 polymorphic variants (Gly908Arg, Leu3020insC) was studied in 40 patients with Crohn’s disease. All patients were admitted to the surgical departmentaccording to emergency indications. The diagnosis of Crohn’s disease was based on clinical data, ultrasound, visual assessment of the pathological process during the operation and histological examination of the surgical material. Studies were conducted in periods from 1 to 10 years from the date of discharge from the hospital. In the studied group, polymorphisms of the CARD15 / NOD2 were encountered with a frequency of 35%. The polymorphic variant Leu3020insC was found in 30% of patients, Gly908Arg was identified in 2.5% of patients, both polymorphic variants were identified in 2,5% of patients. The polymorphic variant Leu3020insC is associated with the localization of the pathological focus and is dominant in inflammation in the area of the ileocecalzone.

Keywords: Crohn’s disease, clinic, polymorphic variants of CARD15/ NOD2.

References

1. Dorofeev, A.E., Zvyaginceva, T.D., Harchenko, N.V. Zabolevaniyakishechnika. // Gorlovka: Lіhtar – 2010. – 532.

2. Ahmad, T., Armuzzi, A., Bunce, M., Mulcahy Hawes, K., Marshall, S.E., Orchard, T.R., Crawshaw, J., Large, O., de Silva, A., Cook, J.T., Barnardo, M., Cullen, S., Welsh, K.I., Jewell, D.P. The molecular classification of the clinical manifestations of Crohn’s disease // Gastroenterology. – 2002. –122. – 854–866.

3. Bengtson, M.B., Solberg, I.C., Aamodt, G., Jahnsen, J., Moum, B., Vatn, M.H. Relationships between inflammatory bowel disease and perinatal factors: both maternal and paternal disease are related to preterm birth of offspring // Inflamm. Bowel. Dis. – 2010. – 16 (5). – 847-55.

4. Cuthbert, A.P., Fisher, S.A., Mirza, M.M., King, K., Hampe, J. Thecontribution of NOD2 gene mutations to the risk and site of disease ininflammatory bowel disease.// Gastroenterology. – 2002. –122. – 867–874.

5. Hampe, J., Grebe, J., Nikolaus, S., Solberg, C., Croucher, P.J. Associationof NOD2 (CARD 15) genotype with clinical course of Crohn’s disease: a cohortstudy. // Lancet. – 2002. – 359. – 1661–1665.

6. Hugot, J-P., Chamaiilard, M., Zouali, H. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. // Nature. – 2001. – 411. – 599–603.

7. Inohara, N., Ogura, Y., Fontalba, A., et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn’s disease // J. Biol. Chem. – 2003. – 278. – 5509–5512.

8. Kirsner, J.В., Spencer, J.A. Family occurrences of ulcerative colitis, regional enteritis, and ileocolitis. //Ann. Intern. Med. – 1963. – 59. – 133–144.

9. Mc Govern, D.P.B., Heel, D.V., Ahmad, Т., Jewell, D.P. NOD2 (CARD 15) the first susceptibility gene for Crohn’s disease. // Gut. – 2001. – 49. – 752–754.

10. Ogura, Y.,Bonen, D.K., Inohara, N. A frameshift mutation in Nod2 associated with susceptibility to Crohn’s disease. // Nature. – 2001. – 411. – 603–606.

11. Ogura, Y., Lala, S., Xin, W., Smith, E., Dowds, T.A., Chen, F.F., Zimmermann, E.M., Tretiakova, M., Cho, J.H., Hart, J. Expression of NOD2 in Paneth cells: a possible link to Crohn’s ileitis // Gut. – 2003. – 52. –1591–1597.

12. Peeters, M., Vermeire, S., Rutgeerts, P. Genetics and IBD: What to tell our patients today? // Falk Symp. – 1998. – 106–11.

13. Satsangi, J., Jewell, D.P. Thegeneticsofinflammatoryboweldisease (Leadingarticle). // Gut. – 1997. – 40 (5). – 572–574.

14. Sands, B.E., Siegel, C.A. Crohn’s disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger&Fordtran’s Gastrointestinal and Liver Disease. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2010: chap 111.

15. Vermeire, S., Wild, G., Kocher, K., Cousineau, J., Dufresne, L. CARD15genetic variation in a Quebec population: prevalence, genotype-phenotyperelationship, and haplotype structure. // AmJHumGenet – 2002. – 71. – 74–83.

For citation

Khokhlov A.L., Rybachkov V.V., Bereznyak N.V. The frequency of CARD15/NOD2 polymorphism in Crohn’s disease. Bulletin of Pirogov National Medical & Surgical Center. 2019;14(1):53-55. (In Russ.) https://doi.org/10.25881/BPNMSC.2019.57.42.011