<i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features
1. Introduction. Multiple cytokines have been studied for their role in the propagation of the inflammatory process related to inflammatory bowel diseases (IBD), but the role of interleukin-4 remains controversial. The aim of this study was to evaluate the role of two <i>IL-4</i> gene si...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-04-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/8/1465 |
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| author | Elena Mirela Ionescu Andrei Ovidiu Olteanu Cristian George Tieranu Luis Ovidiu Popa Silvia Ioana Andrei Carmen Monica Preda Monica Irina Dutescu Mihai Bojinca Ioana Tieranu Olivia Mihaela Popa |
| author_facet | Elena Mirela Ionescu Andrei Ovidiu Olteanu Cristian George Tieranu Luis Ovidiu Popa Silvia Ioana Andrei Carmen Monica Preda Monica Irina Dutescu Mihai Bojinca Ioana Tieranu Olivia Mihaela Popa |
| author_sort | Elena Mirela Ionescu |
| collection | DOAJ |
| description | 1. Introduction. Multiple cytokines have been studied for their role in the propagation of the inflammatory process related to inflammatory bowel diseases (IBD), but the role of interleukin-4 remains controversial. The aim of this study was to evaluate the role of two <i>IL-4</i> gene single nucleotide polymorphisms (SNPs) in disease susceptibility and phenotypic expression. 2. Materials and Methods. A group of 160 patients with IBD (86CD/74UC) and 160 healthy controls were genotyped for <i>IL-4</i> rs2243250/−590C/T and rs2070874/−34C/T using real-time polymerase chain reaction with TaqMan assay. 3. Results. The analysis of IBD patients and controls revealed a significantly reduced frequency of the minor allele T of both SNPs in CD patients (<i>p</i> = 0.03, OR 0.55 and <i>p</i> = 0.02, OR 0.52) and for the entire IBD group (<i>p</i> = 0.01, OR 0.57 and <i>p</i> = 0.01, OR 0.55). Haplotype analysis identified the most frequent haplotype (rs2243250/rs2070874 CC) associated with a high risk for developing IBD (either UC or CD) (<i>p</i> = 0.003). IBD patients with extraintestinal manifestations had significantly increased frequency of the minor alleles T. We also found an association between the presence of allele C of rs2070874 and response to antiTNF treatment. 4. Conclusions. This is the first study to investigate the <i>IL-4</i> gene’s relation to IBD susceptibility conducted in Romania. Both SNPs were found to be associated with disease susceptibility and phenotypic features, such as extraintestinal manifestations and response to antiTNF agents. |
| first_indexed | 2024-03-11T05:06:37Z |
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| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T05:06:37Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-f505efba88ff470682ec29ddc47109d52023-11-17T18:55:27ZengMDPI AGDiagnostics2075-44182023-04-01138146510.3390/diagnostics13081465<i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical FeaturesElena Mirela Ionescu0Andrei Ovidiu Olteanu1Cristian George Tieranu2Luis Ovidiu Popa3Silvia Ioana Andrei4Carmen Monica Preda5Monica Irina Dutescu6Mihai Bojinca7Ioana Tieranu8Olivia Mihaela Popa9Department of Gastroenterology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaDepartment of Gastroenterology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaDepartment of Gastroenterology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaMolecular Biology Department, “Grigore Antipa” National Museum of Natural History, 011341 Bucharest, RomaniaClinic of Internal Medicine II, Thüringen-Kliniken “Georgius Agricola“, 07318 Saalfeld, GermanyDepartment of Gastroenterology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania“Prof. Dr. C. T. Nicolau” National Institute of Blood Transfusion, 011155 Bucharest, RomaniaDepartment of Rheumatology and Internal Medicine, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaDepartment of Pediatrics, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaDepartment of Immunology and Pathophysiology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania1. Introduction. Multiple cytokines have been studied for their role in the propagation of the inflammatory process related to inflammatory bowel diseases (IBD), but the role of interleukin-4 remains controversial. The aim of this study was to evaluate the role of two <i>IL-4</i> gene single nucleotide polymorphisms (SNPs) in disease susceptibility and phenotypic expression. 2. Materials and Methods. A group of 160 patients with IBD (86CD/74UC) and 160 healthy controls were genotyped for <i>IL-4</i> rs2243250/−590C/T and rs2070874/−34C/T using real-time polymerase chain reaction with TaqMan assay. 3. Results. The analysis of IBD patients and controls revealed a significantly reduced frequency of the minor allele T of both SNPs in CD patients (<i>p</i> = 0.03, OR 0.55 and <i>p</i> = 0.02, OR 0.52) and for the entire IBD group (<i>p</i> = 0.01, OR 0.57 and <i>p</i> = 0.01, OR 0.55). Haplotype analysis identified the most frequent haplotype (rs2243250/rs2070874 CC) associated with a high risk for developing IBD (either UC or CD) (<i>p</i> = 0.003). IBD patients with extraintestinal manifestations had significantly increased frequency of the minor alleles T. We also found an association between the presence of allele C of rs2070874 and response to antiTNF treatment. 4. Conclusions. This is the first study to investigate the <i>IL-4</i> gene’s relation to IBD susceptibility conducted in Romania. Both SNPs were found to be associated with disease susceptibility and phenotypic features, such as extraintestinal manifestations and response to antiTNF agents.https://www.mdpi.com/2075-4418/13/8/1465inflammatory bowel diseasecrohn’s diseaseulcerative colitissingle nucleotide polymorphisminterleukin-4 |
| spellingShingle | Elena Mirela Ionescu Andrei Ovidiu Olteanu Cristian George Tieranu Luis Ovidiu Popa Silvia Ioana Andrei Carmen Monica Preda Monica Irina Dutescu Mihai Bojinca Ioana Tieranu Olivia Mihaela Popa <i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features Diagnostics inflammatory bowel disease crohn’s disease ulcerative colitis single nucleotide polymorphism interleukin-4 |
| title | <i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features |
| title_full | <i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features |
| title_fullStr | <i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features |
| title_full_unstemmed | <i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features |
| title_short | <i>Interleukin-4</i> Gene Polymorphisms in Romanian Patients with Inflammatory Bowel Diseases: Association with Disease Risk and Clinical Features |
| title_sort | i interleukin 4 i gene polymorphisms in romanian patients with inflammatory bowel diseases association with disease risk and clinical features |
| topic | inflammatory bowel disease crohn’s disease ulcerative colitis single nucleotide polymorphism interleukin-4 |
| url | https://www.mdpi.com/2075-4418/13/8/1465 |
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