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©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jan 21, 2017; 23(3): 447-454
Published online Jan 21, 2017. doi: 10.3748/wjg.v23.i3.447
IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis
Sarah Fischer, Erzsébet Kövesdi, Lili Magyari, Veronika Csöngei, Kinga Hadzsiev, Béla Melegh, Péter Hegyi, Patrícia Sarlós
Sarah Fischer, Patrícia Sarlós, Division of Gastroenterology, 1st Department of Internal Medicine, University of Pécs, 7624 Pécs, Hungary
Erzsébet Kövesdi, Lili Magyari, Veronika Csöngei, Kinga Hadzsiev, Béla Melegh, Department of Medical Genetics, University of Pécs, 7624 Pécs, Hungary
Erzsébet Kövesdi, Lili Magyari, Veronika Csöngei, Kinga Hadzsiev, Béla Melegh, Szentágothai Research Centre, 7624 Pécs, Hungary
Péter Hegyi, Institute for Translational Medicine, University of Pécs, 7624 Pécs, Hungary
Péter Hegyi, Patrícia Sarlós, Division of Translational Medicine, First Department of Medicine, University of Pécs, 7624 Pécs, Hungary
Author contributions: Hegyi P, Fischer S, Melegh B and Sarlós P designed the research; Fischer S, Kövesdi E, Magyari L, Csöngei V and Hadzsiev K performed the research; Fischer S, Magyari L and Csöngei V analyzed and interpreted the data; Magyari L, Fischer S, Kövesdi E and Sarlós P wrote the article and made critical revisions related to important intellectual content of the manuscript; Melegh B, Hegyi P and Sarlós P gave final approval of the version of the article to be published.
Supported by Hungarian Science Foundation (OTKA), No. K103983 and No. K119540.
Institutional review board statement: The governance, maintenance and management principles of the Biobank had been approved by the National Scientific Research Ethics Committee (ETT TUKEB). Clinical data guidelines and regulations of the local Ethics Committee and Helsinki Declaration in 1975 were followed during collection and use of DNA samples. At blood collection patients gave their informed consent for the future use of their anonymized DNA.
Conflict-of-interest statement: To the best of our knowledge, no conflict of interest exists.
Data sharing statement: No additional data are available for sharing.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Patrícia Sarlós, MD, PhD, Division of Gastroenterology, 1
st Department of Internal Medicine, University of Pécs, 12 Szigeti street, 7624 Pécs, Hungary.
sarlos.patricia@pte.hu
Telephone: +36-72-536145 Fax: +36-72-536146
Received: September 14, 2016
Peer-review started: September 19, 2016
First decision: October 10, 2016
Revised: October 29, 2016
Accepted: December 8, 2016
Article in press: December 8, 2016
Published online: January 21, 2017
Processing time: 121 Days and 14.7 Hours
AIM
To investigate the association of seven single nucleotide polymorphisms (SNPs) of the IL23R gene with the clinical picture of ulcerative colitis (UC).
METHODS
Genomic DNA samples of 131 patients (66 males, 65 females, mean age 55.4 ± 15.8 years) with Caucasian origin, diagnosed with UC were investigated. The diagnosis of UC was based on the established clinical, endoscopic, radiological, and histopathological guidelines. DNA was extracted from peripheral blood leukocytes by routine salting out method. Polymerase chain reaction and restriction fragment length polymorphism were used to identify the alleles of seven SNPs of IL23R gene (rs11209026, rs10889677, rs1004819, rs2201841, rs7517847, rs10489629, rs7530511).
RESULTS
Four out of seven analyzed SNPs had statistically significant influence on the clinical picture of UC. Two SNPs were associated with greater colonic extension (rs2201841 P = 0.0084; rs10489629 P = 0.0405). For two of the SNPs, there was more frequently need for operations (rs2201841 P = 0.0348, OR = 8.0; rs10889677 P = 0.0347, OR = 8.0). The rs2201841 showed to be a risk factor for the development of iron deficiency (P = 0.0388, OR = 6.1837). For patients with the rs10889677, a therapy with azathioprine was more frequently necessary (P = 0.0116, OR = 6.1707). Patients with rs10489629 SNP had a lower risk for weight loss (P = 0.0169, OR = 0.3394). Carriers of the heterozygous variant had a higher risk for an extended disease (P = 0.0284). The rs7517847 showed a protective character leading to mild bowel movements. Three SNPs demonstrated no statistically significant influence on any examined clinical features of UC.
CONCLUSION
We demonstrated susceptible or protective character of the investigated IL23R SNPs on the phenotype of UC, confirming the genetic association.
Core tip:IL23R gene plays important role in the development and influences the phenotype of inflammatory bowel diseases. We investigated the association of seven single nucleotide polymorphisms (SNPs) of IL23R gene with the clinical picture of ulcerative colitis (UC). Two SNPs were associated with greater colonic extension. At two SNPs, there was more frequently need for operations. Rs2201841 was found as a risk factor for the development of iron deficiency. Patients with rs10889677, therapy with azathioprine was more frequently necessary. Patients with rs10489629 SNP had lower risk for weight loss. This study demonstrated the influence of the investigated SNPs of IL23R on the phenotype of UC, confirming genetic association.
