Molecular and genetic diagnostics of inflammatory bowel diseases

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Abstract

Background: In the last two decades, more attention  has  been   paid  to  the   development and implementation of molecular and genetic technologies  for  the   diagnosis   and   prediction of the  development and  course  of inflammatory bowel diseases (IBD). However, the published evidence   on   their   diagnostic   significance   are rather   controversial   and   equivocal   that   may be explained by some characteristics of their frequencies, differences  in pathogenetic, clinical and diagnostic vales of the genetic polymorphisms in various countries and regions.

Aim: To evaluate the frequency, clinical, diagnostic, and prognostic significance  of  the  3020insC  and  G2722С nucleotide  polymorphisms  of the CARD15 (NOD2) gene  in Crohn's disease (CD) and ulcerative colitis (UC) in  the   Kemerovo  Region  of  the   Russian Federation.

Materials and methods:  The study included 144 patients with IBD (58 with CD, 86 with UC), and 44 patients  without  any gastrointestinal tract disorders in the control group. The 3020insC and 2722С allelic frequencies  of the CARD15 gene were determined. All patients  were of the Russian ethnicity  and  were  living in the  territory  of the Kemerovo Region at the time of the study.

Results: The frequency of the 3020insC allele of the CARD15 gene  in CD patients  was significantly higher than in those with UC (16% vs 3%, p < 0.001) and in the control  group   (5%,  р = 0.04).  The  homozygous genotype of 3020insC/insC was found only in the CD patients. The carriage  of the  3020insC allele was associated  with an average  3.5-fold increase of the probability of CD development (odds ratio [OR] 3.6;  95% confidential  interval  [CI]:  1.3–10.3) and was not significantly linked to an increased risk of UC (OR 0.6; 95% CI: 0.1–2.5). The 3020insC allelic frequency in the pooled group of the patients with complicated  CD variants (with stricture formation and  penetrative)  was  significantly  higher, compared to those with the luminal forms (79% vs 21%, р = 0.03) and with the penetrative CD forms compared to  the  luminal (50% vs 21%, р = 0.05). The 3020insC allele carriage in the CD patients was associated with a 3.3-fold increase in the risk of the penetrative forms of the disease  (OR 3.3; 95% CI: 1.8–6.1) and with a 14-fold increase of the overall risk of the complicated  CD variants (OR 14.1; 95% CI: 7.1–27.9). The 2722С allelic frequency in CD and UC patients  and  in the  control  group  were  not significantly different.

Conclusion: The detection of the  3020insC allele of the  CARD15 gene  in the Kemerovo Region of the Russian Federation is appropriate for the early CD diagnosis, assessment of the prognosis for the risk of development of CD phenotypic variants, as well as for the differential diagnosis between CD and UC.

About the authors

D. A. Kuznetsova

Kemerovo State Medical University; Kemerovo Regional Clinical Hospital

Author for correspondence.
Email: lariwar@mail.ru

Kuznetsova Daria A. – MD, Postgraduate Student, Сhair of Pathophysiology, Medical and Clinical Biochemistry KSMU, Doctor of Immunology Laboratory KRCH.

22 Oktyabr'skiy prospekt, Kemerovo, 650066, +7 (923) 497 21 10.

Russian Federation

A. S. Razumov

Kemerovo State Medical University

Email: fake@neicon.ru

Razumov Aleksandr S. – MD, PhD, Professor, Сhair of Pathophysiology, Medical and Clinical Biochemistry.

22a Voroshilova ul., Kemerovo, 650029

Russian Federation

M. V. Merzlyakov

Kemerovo Regional Clinical Hospital

Email: fake@neicon.ru

Merzlyakov Mikhail V. – MD, PhD, Head of the Department of Endoscopy.

22 Oktyabr'skiy prospekt, Kemerovo, 650066

Russian Federation

G. V. Vavin

Kemerovo Regional Clinical Hospital

Email: fake@neicon.ru

Vavin Grigoriy V. – MD, PhD, Deputy Head Physician on Laboratory Diagnostics.

22 Oktyabr'skiy prospekt, Kemerovo, 650066

Russian Federation

R. V. Repnikova

Kemerovo State Medical University

Email: fake@neicon.ru

Repnikova Renata V. – MD, PhD, Professor, Chair of Therapy, Occupational Pathology and Endocrinology.

22a Voroshilova ul., Kemerovo, 650029

Russian Federation

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Copyright (c) 2017 Kuznetsova D.A., Razumov A.S., Merzlyakov M.V., Vavin G.V., Repnikova R.V.

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