Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders.
Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders.
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DOI：
10.3390/life10120351
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发表时间：
2020-12-16
期刊：
影响因子：
--
通讯作者：
Cascella R
中科院分区：
文献类型：
--
作者：
Strafella C;Caputo V;Termine A;Barati S;Caltagirone C;Giardina E;Cascella R
在本研究中，我们研究了IL 6和IL 6 R基因的遗传变异分布，这些基因可用作COVID-19和神经退行性疾病的预后和药物遗传学生物标志物。该研究对代表意大利普通人群的271个样本进行了研究，并确定了7个变体（rs 140764737、rs 142164099、rs 2069849、rs 142759801、rs 190436077、rs 148171375、rs 13306435）和5种变体（rs2228144，rs2229237，rs2228145，rs28730735，rs143810642）。已经预测这些变体影响IL 6和IL 6 R的表达和结合能力。免疫途径分析（IPA）显示，IL 6和IL 6 R似乎与COVID-19严重程度和死亡率以及神经炎症介导的神经退行性疾病相关的几种发病机制有关。因此，针对COVID-19的IL 6-IL 6 R相关生物标志物的可用性可能有助于对抗有害的并发症并预防多器官衰竭。同时，IL 6-IL 6 R相关生物标志物也可用于评估神经炎性疾病的易感性和进展，并采取最合适的治疗策略以改善患者的预后和生活质量。总之，本研究表明如何利用IL 6的多效性活性来满足不同的临床需求，并实现慢性，年龄相关和现代公共卫生紧急事件的个性化医疗方案。
In the present study, we investigated the distribution of genetic variations in IL6 and IL6R genes, which may be employed as prognostic and pharmacogenetic biomarkers for COVID-19 and neurodegenerative diseases. The study was performed on 271 samples representative of the Italian general population and identified seven variants (rs140764737, rs142164099, rs2069849, rs142759801, rs190436077, rs148171375, rs13306435) in IL6 and five variants (rs2228144, rs2229237, rs2228145, rs28730735, rs143810642) within IL6R, respectively. These variants have been predicted to affect the expression and binding ability of IL6 and IL6R. Ingenuity Pathway Analysis (IPA) showed that IL6 and IL6R appeared to be implicated in several pathogenetic mechanisms associated with COVID-19 severity and mortality as well as with neurodegenerative diseases mediated by neuroinflammation. Thus, the availability of IL6-IL6R-related biomarkers for COVID-19 may be helpful to counteract harmful complications and prevent multiorgan failure. At the same time, IL6-IL6R-related biomarkers could also be useful for assessing the susceptibility and progression of neuroinflammatory disorders and undertake the most suitable treatment strategies to improve patients’ prognosis and quality of life. In conclusion, this study showed how IL6 pleiotropic activity could be exploited to meet different clinical needs and realize personalized medicine protocols for chronic, age-related and modern public health emergencies.
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影响因子：
1.9
作者：
Giardina, E;Capon, F;Novelli, G
通讯作者：
Novelli, G
影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
影响因子：
5.8
作者：
Neveu WA;Allard JL;Raymond DM;Bourassa LM;Burns SM;Bunn JY;Irvin CG;Kaminsky DA;Rincon M
通讯作者：
Rincon M
影响因子：
--
作者：
Docampo, Elisa;Giardina, Emiliano;Estivill, Xavier
通讯作者：
Estivill, Xavier