白细胞介素 15 受体，α（IL15RA）多态性与韩国后纵韧带骨化患者的相关性。

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

机构信息

Department of Physical Medicine and Rehabilitation, School of Medicine, Kyung Hee University, Seoul 130-701, Republic of Korea.

出版信息

Cytokine. 2011 Sep;55(3):343-6. doi: 10.1016/j.cyto.2011.05.016.

DOI:10.1016/j.cyto.2011.05.016

PMID:21689944

Abstract

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.

摘要

目的

最近有许多证据表明，在后纵韧带骨化症（OPLL）的发展中存在遗传因素。本研究的目的是探讨白细胞介素 15 受体α（IL15RA）基因的单核苷酸多态性（SNP）是否为韩国 OPLL 患者的危险因素。

设计

为了探讨遗传相关性，在 166 例 OPLL 患者和 230 例对照中，对 IL15RA 的两个编码 SNP（rs2296139，Thr73Thr；rs2228059，Asn182Thr）进行了基因分型。使用 SNPStats、SNPAnalyzer 和 Helixtree 程序进行关联分析。

结果

在本研究中，我们发现错义 SNP（rs2228059）与 OPLL 的风险之间存在关联，在共显性（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）中均有统计学意义。rs2228059 等位基因的频率与 OPLL 的易感性显著相关（p=0.0043，OR=1.52，95%CI=1.14-2.02）。经过 Bonferroni 校正后，错义 SNP（rs2228059，Asn182Thr）仍具有显著相关性（共显性模型中 p=0.0056；显性模型中 p=0.0142；等位基因分析中 p=0.0086）。IL15RA 中的单倍型变异与 OPLL 相关（全局单倍型检验，p=0.025）。