Original Research ARTICLE
Association of IL23R Variants with Crohn's Disease in Korean Children
- 1Kangwon National University Hospital, South Korea
- 2Kangwon National University, South Korea
- 3Seoul National University Bundang Hospital, South Korea
- 4Seoul National University, South Korea
- 5Seoul National University Children's Hospital, South Korea
Background: The interleukin 23 receptor gene (IL23R) is strongly associated with Crohn's disease (CD). It is unknown whether genetic variations in IL23R determine susceptibility for pediatric CD in Asian populations. Here, we investigated the association between IL23R variants and CD in Korean children.
Methods: Four single nucleotide polymorphisms (SNPs) of IL23R (rs76418789, rs1004819, rs7517847, and rs1495965) were genotyped in 141 children with CD and 150 controls using DNA direct sequencing. The risk allele and genotype frequencies were compared between patients and controls. The association between clinical phenotypes and genotypes of patients was also analyzed.
Results: Two IL23R SNPs, rs76418789 and rs1495965, were associated with CD in Korean pediatric patients as defense and risk loci, respectively. The odds ratio (OR) for rs76418789 and rs1495965 was 0.409 (95% confidence interval [CI], 0.177–0.944; p = 0.031) and 1.484 (95% CI, 1.070–2.059; p = 0.018), respectively. Patients with the homozygous G allele of rs1495965 showed higher CD risk than those with other genotypes (GG vs. AA: OR, 2.256; 95% CI, 1.136–4.478; p = 0.019; GG vs. GA+AA: OR, 2.000; 95% CI, 1.175–3.404; p = 0.010). Additionally, they were more likely to have relatively invasive disease behavior of stenosis and/or penetration than simple inflammation (OR, 2.297; 95% CI, 1.065–4.950; p = 0.032).
Conclusions: This is the first study reporting IL23R variants in Asian pediatric patients with CD. IL23R was significantly associated with Korean pediatric CD, and the rs1495965 may influence the clinical features of CD in Korean children.
Keywords: Crohn’s Disease, Single nucleotide polymorphisms, Interleukin 23 receptor, Genetics, Children
Received: 19 Aug 2019;
Accepted: 28 Oct 2019.
Copyright: © 2019 Hong, Yang, Moon, Chang and Ko. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Prof. Jae Sung Ko, Seoul National University Children's Hospital, Seoul, South Korea, email@example.com