Case-control study of IL23R rs76418789 polymorphism, smoking, and ulcerative colitis in Japan

IF 3.7 3区 医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
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Abstract

Background

Interleukin (IL)-23 is involved in the pathogenesis of ulcerative colitis (UC). A genome-wide significant association between IL23R p.G149R (rs76418789) and UC was previously identified in Japan and Korea. This case-control study aims to examine this association within the Japanese population.

Methods

The study included 384 cases diagnosed with UC within the past 4 years and 661 control subjects. Adjustment was made for sex, age, and smoking.

Results

The frequency of the AA genotype of rs76418789 was 0.0 % in cases and 0.5 % in control subjects. In comparison to study subjects with the GG genotype of rs76418789, those with the GA or AA genotype had a significantly reduced risk of UC, with an adjusted odds ratio of 0.67 (95 % confidence interval: 0.44–0.999). A significant multiplicative interaction was observed between rs76418789 and having ever smoked influencing UC (p for interaction = 0.03). A significant positive association was found between having ever smoked and UC in individuals with at least one A allele, while no such positive relationship was observed in those with the GG genotype.

Conclusion

IL23R SNP rs76418789 showed a significant association with UC. This study provides new evidence regarding the interaction between rs76418789 and smoking in relation to UC.

日本 IL23R rs76418789 多态性、吸烟与溃疡性结肠炎的病例对照研究
背景白细胞介素(IL)-23 与溃疡性结肠炎(UC)的发病机制有关。之前在日本和韩国发现了 IL23R p.G149R (rs76418789) 与 UC 之间的全基因组显著关联。本病例对照研究旨在探讨日本人群中的这种关联。结果rs76418789的AA基因型在病例中的频率为0.0%,在对照组中的频率为0.5%。与 rs76418789 基因型为 GG 的研究对象相比,基因型为 GA 或 AA 的研究对象罹患 UC 的风险显著降低,调整后的几率比为 0.67(95% 置信区间:0.44-0.999)。在 rs76418789 与曾经吸烟对 UC 的影响之间观察到了明显的乘法交互作用(交互作用的 p = 0.03)。在至少具有一个 A 等位基因的个体中,发现曾经吸烟与 UC 之间存在明显的正相关,而在具有 GG 基因型的个体中则未观察到这种正相关。这项研究为 rs76418789 与吸烟在 UC 关系中的相互作用提供了新的证据。
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来源期刊
Cytokine
Cytokine 医学-免疫学
CiteScore
7.60
自引率
2.60%
发文量
262
审稿时长
48 days
期刊介绍: The journal Cytokine has an open access mirror journal Cytokine: X, sharing the same aims and scope, editorial team, submission system and rigorous peer review. * Devoted exclusively to the study of the molecular biology, genetics, biochemistry, immunology, genome-wide association studies, pathobiology, diagnostic and clinical applications of all known interleukins, hematopoietic factors, growth factors, cytotoxins, interferons, new cytokines, and chemokines, Cytokine provides comprehensive coverage of cytokines and their mechanisms of actions, 12 times a year by publishing original high quality refereed scientific papers from prominent investigators in both the academic and industrial sectors. We will publish 3 major types of manuscripts: 1) Original manuscripts describing research results. 2) Basic and clinical reviews describing cytokine actions and regulation. 3) Short commentaries/perspectives on recently published aspects of cytokines, pathogenesis and clinical results.
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