Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands.
Mult Scler. 2011 Aug;17(8):922-30. doi: 10.1177/1352458511402411. Epub 2011 May 4.
The interleukin 7 receptor (IL7R) has been recognized as a susceptibility gene for Multiple Sclerosis (MS). Analysis of rs6897932 (the most strongly MS-associated single nucleotide polymorphism (SNP)), showed effects of genotype on the relative expression of membrane-bound to total amount of IL7R mRNA.
We assessed the relevance of IL7R on MS phenotype (including clinical and magnetic resonance imaging (MRI) parameters) at DNA and mRNA level in Dutch patients with MS.
The genotype of rs6897932 was analyzed in 697 patients with MS and 174 healthy controls. The relevance of genotype and carriership of the C allele on MS phenotype (disease activity and severity, using clinical and MRI parameters) was assessed. In addition, relative gene expression of membrane-bound to total IL7R mRNA was analyzed with respect to disease phenotype in a subgroup of 95 patients with early relapsing MS.
In particular, homozygosity for the risk allele is a risk factor for MS in our population (OR(CC vs CT and TT) = 1.65 (95% CI: 1.18-2.30), two-sided p = 0.004). However, no effect of genotype or the relative expression of membrane-bound IL7R (presence of exon 6-7) to total amount of IL7R mRNA (presence of exon 4-5) was found on MS phenotype.
Homozygosity for the IL7R exon 6 rs6897932 C allele is associated with a higher risk for MS in our Dutch population. No effect was found of genotype or mRNA expression on disease phenotype.
白细胞介素 7 受体 (IL7R) 已被认为是多发性硬化症 (MS) 的易感基因。对 rs6897932（与 MS 关联最强的单核苷酸多态性 (SNP)）的分析表明，基因型对膜结合 IL7R mRNA 与总 IL7R mRNA 的相对表达量有影响。
我们评估了荷兰多发性硬化症患者 DNA 和 mRNA 水平上的 IL7R 对 MS 表型（包括临床和磁共振成像 (MRI) 参数）的相关性。
在 697 名 MS 患者和 174 名健康对照中分析了 rs6897932 的基因型。评估了基因型和 C 等位基因的携带与 MS 表型（使用临床和 MRI 参数评估疾病活动度和严重程度）的相关性。此外，在一个早期复发性 MS 患者亚组中，还分析了膜结合 IL7R 与总 IL7R mRNA 的相对基因表达与疾病表型的关系。
特别是，在我们的人群中，风险等位基因的纯合性是 MS 的一个危险因素（OR(CC 与 CT 和 TT) = 1.65 (95% CI：1.18-2.30)，双侧 p = 0.004）。然而，基因型或膜结合 IL7R（存在外显子 6-7）与总 IL7R mRNA（存在外显子 4-5）的相对表达对 MS 表型没有影响。
IL7R 外显子 6 rs6897932 C 等位基因的纯合性与我们荷兰人群中 MS 的风险增加有关。未发现基因型或 mRNA 表达对疾病表型的影响。
