Association between interleukin 15 receptor, alpha (IL15RA) polymorphism and Korean patients with ossification of the posterior longitudinal ligament

Association between interleukin 15 receptor, alpha (IL15RA) polymorphism and Korean patients with ossification of the posterior longitudinal ligament
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DOI:
10.1016/j.cyto.2011.05.016
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发表时间:
2011-09-01
期刊:
影响因子:
3.8
通讯作者:
Yun, Dong Hwan
Yun, Dong Hwan
中科院分区:
医学3区
文献类型:
--
作者:
Kim, Dong Hwan;Jeong, Yong Seol;Yun, Dong Hwan

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目的:近年来,关于后纵韧带骨化症(OPLL)的发生与遗传因素有关的研究报道较多。本研究的目的是调查白细胞介素15受体,α(IL 15 RA)基因的单核苷酸多态性(SNPs)作为一个危险因素,在韩国OPLL.Design患者:调查的遗传关联,两个编码SNPs(rs 2296139,Thr 73 Thr; rs 2228059,Asn 182 Thr)在IL 15 RA基因型在166 OPLL患者和230名对照组。用SNPStats、SNPAnalyzer和Helixtree程序进行关联分析。在目前的研究中,我们发现错义SNP(rs 2228059)和共显性OPLL风险(p = 0.0028,OR = 1.58,95% CI = 1.17-2.14),显性(p = 0.0071,OR = 1.82,95%CI = 1.17-2.82)和隐性模型(p = 0.036,OR = 1.79,95%CI = 1.04-3.09)。rs 2228059等位基因频率与OPLL的易感性显著相关(p = 0.0043,OR = 1.52,95%CI = 1.14-2.02)。经Bonferroni校正后,错义SNP(rs 2228059,Asn 182 Thr)仍具有显著相关性(共显性模型p = 0.0056;显性模型p = 0.0142;等位基因分析p = 0.0086)。IL 15 RA单倍型变异与OPLL相关(全局单倍型检验,p = 0.025)。结论:IL 15 RA基因多态性可能与韩国人群OPLL的易感性有关。皇冠版权所有(C)2011由爱思唯尔有限公司出版。保留所有权利。
Objectives: Recently, a number of evidences have been reported concerning the genetic factor involved in the development of ossification of the posterior longitudinal ligament (OPLL). The purpose of this study was to investigate single nucleotide polymorphisms (SNPs) of the interleukin 15 receptor, alpha (IL15RA) gene as a risk factor in Korean patients with OPLL.Design: To investigate the genetic association, two coding SNPs (rs2296139, Thr73Thr; rs2228059, Asn182Thr) in IL15RA were genotyped in 166 OPLL patients and 230 control subjects. SNPStats, SNPAnalyzer, and Helixtree programs were used for association analysis.Results: In the present study, we found the association between a missense SNP (rs2228059) and the risk of OPLL in codominant (p = 0.0028, OR = 1.58, 95% CI = 1.17-2.14), dominant (p = 0.0071, OR = 1.82, 95% CI = 1.17-2.82), and recessive models (p = 0.036, OR = 1.79, 95% CI = 1.04-3.09). The frequency of rs2228059 allele was significantly associated with the susceptibility of OPLL (p = 0.0043, OR = 1.52, 95% CI = 1.14-2.02). After Bonferroni correction, the missense SNP (rs2228059, Asn182Thr) still had significant correlations (p = 0.0056 in codominant model; p = 0.0142 in dominant model; p = 0.0086 in allele analysis). Haplotype variation in IL15RA was associated with OPLL (global haplotype test, p = 0.025).Conclusions: These results suggest that IL15RA polymorphism may be associated with the susceptibility of OPLL in Korean population. Crown Copyright (C) 2011 Published by Elsevier Ltd. All rights reserved.