白细胞介素-7受体α基因多态性对亚洲人多发性硬化易感性的影响

Relationship between interleukin-7 receptor alpha gene polymorphisms and susceptibility of mutiple sclerosis in Asian

目的探讨亚洲人群白细胞介素-7受体α（IL-7RA）基因rs6897932多态性位点与多发性硬化（MS）遗传易感性的关系。方法采用反转录聚合酶链反应（RT—PCR）技术，对78例MS和视神经脊髓炎（neuromyelitis optica，NMO）患者（NMO组），187非MS的视神经脊髓炎（non-NMOMS）患者（non—NMOMS组）及158例健康对照组筛查IL-7RA基因分布频率，并进行统计学分析。结果non-NMOMS组C等位基因频率89．3%（167例）明显高于对照组79．8％（126例），差异有统计学意义（OR=2．12，95％CI：1．38～3．25，P〈0．01）；CC等位基因型频率分别为78．6％（147例）与63．3％（100例），差异有统计学意义（OR=2．13，95％CI；1．32～3．43，P〈0．01）；而NMO组与对照组C、CC等位基因频率比较，差异无统计学意义。结论IL-7RA基因rs6897932多态性位点影响亚洲人群MS遗传易感性。C等位基因为MS的易感因子，T等位基因则可能为MS的保护因子。

Objective To study the relationship between the susceptibility of mutiple sclerosis （MS） and single nucleotide polymorphisms （SNP） rs6897932 of interleukin-7 receptor alpha （IL- 7RA） in Asian. Methods The SNP rs6897932 in the IL-TRA gene was genotyped by real time polymerase chain reaction （PCR） using TaqMan SNP Genotyping Assays. 78 cases with MS and neuromyelitis optica （NMO）, 187 patients with non-NMO MS and 158 healthy controls were enrolled. Results The frequencies of both the C allele and the CC genotype of SNP rs6897932 in the IL-7RA gene in non-NMO MS patients were higher than those of healthy controls（89.3% vs. 79.8%, OR= 2.12, 95%CI：1.38-3.25 P〈0.01; 78.6% vs. 63.3%, 0R=2.13,95%CI..1.32-3.43, P〈0.01）. However, there was no significant difference in the frequency of either the C allele or the CC genotype between control group and NMO patients. Conclusions IL-7RA gene is one of susceptibility gene for MS in Asian. C allele was presumed as a risk factor of MS while T allele might be a protective factor.