Kim Jason Yongha, Cheong Hyun Sub, Kim Ho Jin, Kim Lyoung Hyo, Namgoong Suhg, Shin Hyoung Doo
Department of Life Science, Sogang University, Seoul 121742, Republic of Korea.
Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121742, Republic of Korea.
Mol Med Rep. 2014 Feb;9(2):737-43. doi: 10.3892/mmr.2013.1863. Epub 2013 Dec 13.
Multiple sclerosis (MS) and neuromyelitis optica (NMO), which are referred to as inflammatory demyelinating diseases (IDDs), are autoimmune diseases affecting the central nervous system. Interleukin‑7 receptor (IL7R) encodes for a receptor protein that is important in the development of immune cells. Several studies have reported significant associations between IL7R polymorphisms and MS. The aim of the present study was to investigate a possible association between IL7R polymorphisms and IDDs such as MS and NMO. Thirteen single nucleotide polymorphisms (SNPs) were selected based on their linkage disequilibrium (LD), minor allele frequency (MAF) and location, and were genotyped in 178 IDD patients and 237 healthy controls. The association of SNPs with IDD risk was analyzed by logistic regression. A meta‑analysis on the association between rs6897932 and the risk of MS was also performed. Statistical analyses revealed that a common SNP, rs6897932, was marginally associated with IDD in a recessive model (P=0.003, Pcor.=0.03), which had shown significant associations with MS in previous studies. The results replicated the significant association found between rs6897932 and IDD. In addition, the meta‑analysis of rs6897932 clearly demonstrates a higher magnitude of risk in Asian populations than in Caucasian populations. Although there are certain limitations to our study, the results indicate that the genetic variation of IL7R may be associated with IDDs such as MS and NMO in the population studied.
多发性硬化症（MS）和视神经脊髓炎（NMO），被称为炎性脱髓鞘疾病（IDD），是影响中枢神经系统的自身免疫性疾病。白细胞介素-7受体（IL7R）编码一种在免疫细胞发育中起重要作用的受体蛋白。多项研究报告了IL7R基因多态性与MS之间的显著关联。本研究的目的是调查IL7R基因多态性与诸如MS和NMO等IDD之间可能存在的关联。基于连锁不平衡（LD）、次要等位基因频率（MAF）和位置选择了13个单核苷酸多态性（SNP），并在178例IDD患者和237例健康对照者中进行基因分型。通过逻辑回归分析SNP与IDD风险的关联。还对rs6897932与MS风险之间的关联进行了荟萃分析。统计分析显示，一个常见的SNP，rs6897932，在隐性模型中与IDD存在边缘关联（P = 0.003，校正P = 0.03），该SNP在先前的研究中已显示与MS存在显著关联。结果重复了rs6897932与IDD之间的显著关联。此外，rs6897932的荟萃分析清楚地表明，亚洲人群的风险程度高于白种人群。尽管我们的研究存在一定局限性，但结果表明，在所研究的人群中，IL7R的基因变异可能与诸如MS和NMO等IDD相关。
