Sayad A
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Int J Immunogenet. 2014 Aug;41(4):330-4. doi: 10.1111/iji.12132. Epub 2014 Jun 12.
The purpose of this case-control study was to evaluate the frequencies and potential genetic susceptibility of the -330 IL2 T and G alleles and HLA-DRB11501 allele in Iranian patients with multiple sclerosis (MS) compared to healthy controls. Two hundred and sixty Iranian patients with MS from medical genetics department of Sarem Women hospital were selected. Besides, 450 ethnically age- and sex-matched healthy individuals without personal or family backgrounds of autoimmune disorders were enrolled as a control group. All polymorphisms were analysed using RFLP-PCR technique. HLA-DRB1 genotyping was carried out by HISTO TYPE SSP high-resolution Kits according to the manufacturer's suggestions. The frequency of the T allele at the -330 IL2 polymorphism was significantly higher in patients with MS than controls (OR: 2.45, 95 CI: 1.9-3, P = 4 × 10(-14) ). Moreover, the T/T genotype was more frequent in patients than in controls (51% vs. 30%). This study indicated that the -330 T IL2 allele and the T/T genotype were related to increased plasma concentration of IL2 and a higher risk of developing MS among Iranian patients. Carrying both the -330 T IL2 and the HLA, DRB1 1501 alleles showed the most susceptibly effect to MS. Our data demonstrated -330 T IL2 allele provided major susceptibility to MS and HLA-DRB1* 1501 allele had an additive effect. In addition, it seems that studies with larger sample size are required to bring about more authentic results. Our findings suggest that IL2 gene polymorphisms influence the susceptibility to MS in Iranian patients.
本病例对照研究的目的是评估与健康对照相比，伊朗多发性硬化症（MS）患者中-330 IL2基因T和G等位基因以及HLA-DRB11501等位基因的频率和潜在遗传易感性。从萨雷姆妇女医院医学遗传学部门选取了260例伊朗MS患者。此外，招募了450名年龄和性别匹配、无自身免疫性疾病个人或家族背景的健康个体作为对照组。所有多态性均采用RFLP-PCR技术进行分析。HLA-DRB1基因分型根据制造商的建议，使用HISTO TYPE SSP高分辨率试剂盒进行。MS患者中-330 IL2多态性的T等位基因频率显著高于对照组（OR：2.45，95%CI：1.9 - 3，P = 4×10⁻¹⁴）。此外，患者中的T/T基因型比对照组更常见（51%对30%）。本研究表明，-330 T IL2等位基因和T/T基因型与伊朗患者中IL2血浆浓度升高以及患MS的较高风险相关。同时携带-330 T IL2和HLA-DRB11501等位基因对MS的易感性影响最大。我们的数据表明，-330 T IL2等位基因对MS提供主要易感性，而HLA-DRB1*1501等位基因具有累加效应。此外，似乎需要进行更大样本量的研究以获得更可靠的结果。我们的研究结果表明，IL2基因多态性影响伊朗患者对MS的易感性。
