塞尔维亚患者中遗传变异 IL2RA rs2104286、IFI30 rs11554159 和 IKZF3 rs12946510 与多发性硬化症发病和严重程度的关联。
The association of genetic variants IL2RA rs2104286, IFI30 rs11554159 and IKZF3 rs12946510 with multiple sclerosis onset and severity in patients from Serbia.
机构信息
VINČA Institute of Nuclear Sciences, National Institute of the Republic of Serbia, Laboratory for Radiobiology and Molecular Genetics, University of Belgrade, Belgrade, Serbia.
Military Medical Academy, Clinic for Neurology, Belgrade, Serbia.
出版信息
J Neuroimmunol. 2020 Oct 15;347:577346. doi: 10.1016/j.jneuroim.2020.577346. Epub 2020 Jul 25.
An algorithm Probabilistic Identification of Causal SNPs, identified 434 causal variants for multiple sclerosis (MS) including IL2RA rs2104286, IFI30 rs11554159 and IKZF3 rs12946510. Analysis of individual and combined effects of these variants in the Serbian population identified that Il2RA rs2104286 G allele carriers had a lower risk for developing MS (gender adjusted OR = 0.63, p = .003). With regard to the IFI30 rs11554159 recessive genetic model, among HLA-DRB1*15:01 positive patients, the AA homozygote had a significantly higher MSSS compared to the G allele carriers (p = .003). This study confirms role of IL2RA rs2104286 in MS and suggest the role of IFI30 rs11554159 in disease severity, which needs validation.
一种名为“Probabilistic Identification of Causal SNPs”的算法确定了 434 个多发性硬化症（MS）的因果变异，包括 IL2RA rs2104286、IFI30 rs11554159 和 IKZF3 rs12946510。对塞尔维亚人群中这些变异的个体和联合作用的分析表明，携带 Il2RA rs2104286 G 等位基因的个体患 MS 的风险较低（性别调整后的 OR=0.63，p=0.003）。关于 IFI30 rs11554159 隐性遗传模型，在 HLA-DRB1*15:01 阳性患者中，AA 纯合子的 MSSS 明显高于 G 等位基因携带者（p=0.003）。本研究证实了 IL2RA rs2104286 在 MS 中的作用，并提示 IFI30 rs11554159 在疾病严重程度中的作用，这需要进一步验证。
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