韩国人群中白细胞介素23受体基因多态性（rs7530511）与脑出血的关联
Association of IL23R polymorphism (rs7530511) with intracerebral hemorrhage in Korean population.
作者信息
Park Hae Jeong, Kim Su Kang, Park Hyun-Kyung, Chung Joo-Ho
机构信息
Kohwang Medical Research Institute, Kyung Hee University, 26 Kyunghee-daero, Dongdaemun-gu, Seoul, 130-701, South Korea.
Department of Emergency Medicine, School of Medicine, Kyung Hee University, Seoul, 130-701, South Korea.
出版信息
Neurol Sci. 2016 Jun;37(6):983-5. doi: 10.1007/s10072-016-2496-y. Epub 2016 Feb 5.
Cytokines and their receptors are involved in the development of intracerebral hemorrhage (ICH). Interleukin 23 receptor (IL23R) has been implicated in numerous inflammatory and immune diseases. In this study, we investigated whether single nucleotide polymorphisms (SNPs) of IL23R were associated with the susceptibility of ICH in Korean population. Two coding region SNPs (cSNPs) [rs1884444 (Gln3His), and rs7530511 (Leu310Pro)] were selected, and genotyped in 167 ICH patients and 377 control subjects using direct sequencing. Of two cSNPs, only rs7530511 showed a significant association with ICH in codominant model (C/T vs. C/C, P = 0.017, odds ratio (OR) 4.15, 95 % confidential interval (CI) 1.27-13.58). Allele frequency analysis also revealed that rs7530511 was associated with ICH (P = 0.023, OR 3.68, 95 % CI 1.19-11.32). The frequency of the T allele was increased in the ICH patients, compared to the control subjects. These results suggest that IL23R may contribute to the development of ICH.
细胞因子及其受体参与脑出血（ICH）的发生发展。白细胞介素23受体（IL23R）与多种炎症和免疫疾病有关。在本研究中，我们调查了韩国人群中IL23R单核苷酸多态性（SNP）是否与ICH易感性相关。选择了两个编码区SNP（cSNP）[rs1884444（Gln3His）和rs7530511（Leu310Pro）]，并采用直接测序法对167例ICH患者和377例对照者进行基因分型。在两个cSNP中，只有rs7530511在共显性模型中显示出与ICH有显著关联（C/T与C/C相比，P = 0.017，比值比（OR）4.15，95%可信区间（CI）1.27 - 13.58）。等位基因频率分析也显示rs7530511与ICH相关（P = 0.023，OR 3.68，95% CI 1.19 - 11.32）。与对照者相比，ICH患者中T等位基因的频率增加。这些结果表明IL23R可能参与ICH的发生发展。
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