The association of genetic variants IL2RA rs2104286, IFI30 rs11554159 and IKZF3 rs12946510 with multiple sclerosis onset and severity in patients from Serbia,Journal of Neuroimmunology

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The association of genetic variants IL2RA rs2104286, IFI30 rs11554159 and IKZF3 rs12946510 with multiple sclerosis onset and severity in patients from Serbia
Journal of Neuroimmunology ( IF 2.9 ) Pub Date : 2020-10-01 , DOI: 10.1016/j.jneuroim.2020.577346
Milan Stefanović ₁ , Ivan Životić ₁ , Ljiljana Stojković ₁ , Evica Dinčić ₂ , Aleksandra Stanković ₁ , Maja Živković ₁

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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.

中文翻译：

遗传变异 IL2RA rs2104286、IFI30 rs11554159 和 IKZF3 rs12946510 与塞尔维亚患者多发性硬化症的发病和严重程度的关联

因果 SNP 的概率识别算法确定了多发性硬化症 (MS) 的 434 个因果变异，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组合效应的分析表明，Il2RA rs2104286 G 等位基因携带者患 MS 的风险较低（性别调整 OR = 0.63，p = .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 = .003)。该研究证实了 IL2RA rs2104286 在 MS 中的作用，并表明 IFI30 rs11554159 在疾病严重程度中的作用，这需要验证。

更新日期：2020-10-01

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