The role of TNF-alpha gene (-238G/A and -308G/A) polymorphisms in the etiology and pathogenesis of inflammatory bowel diseases in various ethnic groups

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Abstract

This literature review deals with specifics of the natural course of inflammatory bowel disease (IBD) in patients from various ethnic groups and -308G/A and -238G/A promoter polymorphisms in tumor necrosis factor-alpha (TNF-α) gene. The search in PubMed, Medline, Еlibrary.ru databases has led to identify in total 20 studies, including 2 meta-analyses, on the role of TNF-α-308G/A and -238G/A gene polymorphism in the etiology and pathophysiology of IBD. The TNF-α-308G/A polymorphism is associated with increased secretion of this proinflammatory cytokine, whereas the TNF-α-238G/A genotype is characterized by reduced TNF-α secretion. A  number of studies have shown an association between TNF-α-308G/A gene polymorphism and severe course of IBD, requiring more active treatment of patients (cytostatics, corticosteroids, biological agents). Some investigators have found that the patients carriers of TNF-α-308G/A had a  higher probability of surgical interventions. The association between TNF-α-308G/A and the phenotypic characteristics of IBD has been identified in studies performed in Europe, Asia, and Russia. The association of this polymorphism with the prevalence of ulcerative colitis has been proven in some studies, in particular, in the Asian population. Similar associations have been noted in few publications originating from Europe and North America, while some studies have found no links between TNF-α-308G/A, -238G/A, and the course of IBD. TNF-α-238G/A gene polymorphism has not shown any significance for the prevalence and course of ulcerative colitis and Crohn's disease. One can assume that the differences in the study results arising from one and the same geographical area are related to genetic heterogeneity of the study groups, phenotypic variances between the study subjects, as well as relatively small sample sizes. Currently, the search for genetic, biochemical and other prognostic criteria for IBD course is in progress. There are studies in progress to investigate the mechanisms of transformation of the genetic information into the particulars of ulcerative colitis and Crohn's disease manifestations, with consideration of ethnicity.

About the authors

I. V. Zhilin

Chita Regional Clinical Hospital;
Irkutsk Scientific Center of Surgery and Traumatology

Author for correspondence.
Email: zhivoj1113@yandex.ru
ORCID iD: 0000-0002-2405-0198

Ivan V. Zhilin – MD, Proctologist, Surgeon Chita Regional Clinical Hospital; Postgraduate student Irkutsk Scientific Center of Surgery and Traumatology

7 Kokhanskogo ul., Chita, 672038,

1 Bortsov Revolyutsii ul., Irkutsk, 664003

14–411 Balyabina ul., Chita, 672000

Russian Federation

E. Yu. Chashkova

Irkutsk Scientific Center of Surgery and Traumatology

Email: fake@neicon.ru
ORCID iD: 0000-0002-7953-6523

Elena Yu. Chashkova – MD, PhD, Head of Laboratory of Reconstructive Surgery, Scientific Department of Clinical Surgery

1 Bortsov Revolyutsii ul., Irkutsk, 664003

Russian Federation

A. A. Zhilina

Chita State Medical Academy

Email: fake@neicon.ru
ORCID iD: 0000-0002-4405-2975

Albina A. Zhilina – MD, PhD, Associate Professor, Chair of Therapy, Faculty of Advanced Studies and Postgraduate Education

39a Gor'kogo ul., Chita, 672000

Russian Federation

B. S. Pushkarev

Chita State Medical Academy

Email: fake@neicon.ru
ORCID iD: 0000-0003-4524-006X

Boris S. Pushkarev – Junior Research Fellow, Laboratory of Molecular Genetics, Research Institute of Molecular Medicine

39a Gor'kogo ul., Chita, 672000

Russian Federation

N. S. Korotaeva

Irkutsk Scientific Center of Surgery and Traumatology

Email: fake@neicon.ru
ORCID iD: 0000-0002-0880-9897

Nataliia S. Korotaeva – MD, PhD, Senior Research Fellow, Laboratory of Reconstructive Surgery, Scientific Department of Clinical Surgery

1 Bortsov Revolyutsii ul., Irkutsk, 664003

Russian Federation

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