Liu Meng, Hu Xueqiang, Wang Yuge, Chen Xiaohong, Wu Jian
1Department of Neurology, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Int J Neurosci. 2014 Dec;124(12):904-7. doi: 10.3109/00207454.2014.894044. Epub 2014 Mar 19.
The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide polymorphisms (SNPs) have been shown to be associated with several autoimmune diseases such as inflammatory bowel disease, psoriasis and ankylosing spondylitis. However, the association studies between multiple sclerosis (MS) and SNPs of IL12B or IL23R gene have been reported with inconsistent results in Caucasian population. These discrepancies prompted us to investigate whether IL12B and IL23R variants are associated with susceptibility to MS in Chinese southern population. In this study, we investigated four SNPs (rs2201841, rs10889677, rs7517847 in IL23R and rs3212227 in IL12B) in 178 MS patients and 221 health controls in southern China using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. There was no difference of genotype or allele distribution of these SNPs between MS patients and controls. No association was found between gene polymorphisms and clinical characteristics in MS patients. Furthermore, haplotypes analysis showed similar distribution of haplotype frequencies in MS patients and controls. Our study showed that the IL12B and IL23R gene SNPs does not seem to be associated with MS susceptibility in Chinese southern population.
白细胞介素23（IL12B）亚基及其受体（IL23R）基因单核苷酸多态性（SNP）已被证明与多种自身免疫性疾病相关，如炎症性肠病、银屑病和强直性脊柱炎。然而，关于白种人群中多发性硬化症（MS）与IL12B或IL23R基因SNP的关联研究报告结果并不一致。这些差异促使我们研究IL12B和IL23R变异体是否与中国南方人群患MS的易感性相关。在本研究中，我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对中国南方178例MS患者和221例健康对照者的4个SNP（IL23R中的rs2201841、rs10889677、rs7517847以及IL12B中的rs3212227）进行了研究。MS患者和对照者之间这些SNP的基因型或等位基因分布没有差异。在MS患者中未发现基因多态性与临床特征之间存在关联。此外，单倍型分析显示MS患者和对照者中，单倍型频率分布相似。我们的研究表明，在中国南方人群中，IL12B和IL23R基因SNP似乎与MS易感性无关。
