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Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms

机译:台湾川崎病冠状动脉瘤患儿谷氨酸受体基因家族的遗传变异

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Background Patients with Kawasaki disease (KD), a pediatric systemic vasculitis, may develop coronary artery aneurysm (CAA) as a complication. To investigate the role of glutamate receptors in KD and its CAA development, we performed genetic association studies. Methods and results We examined the whole family of glutamate receptors by genetic association studies in a Taiwanese cohort of 262 KD patients. We identified glutamate receptor ionotropic, kainate 1 (GRIK1) as a novel susceptibility locus associated with CAA formation in KD. Statistically significant differences were noted for factors like fever duration, 1st Intravenous immunoglobulin (IVIG) used time (number of days after the first day of fever) and the GRIK1 (rs466013, rs425507, and rs38700) genetic variants. This significant association persisted even after using multivariate regression analysis (Full model: for rs466013: odds ratio =2.12; 95% CI =1.22-3.65; for rs425507: odds ratio =2.16; 95% CI =1.26-3.76; for rs388700: odds ratio =2.16; 95% CI =1.26-3.76). Conclusions We demonstrated that GRIK1 polymorphisms are associated CAA formation in KD, even when adjusted for fever duration and IVIG used time, and may also serve as a genetic marker for the CAA formation in KD.
机译:背景技术患有川崎病(KD)的小儿全身性血管炎患者可能会发展为冠状动脉瘤(CAA)。为了研究谷氨酸受体在KD及其CAA发育中的作用,我们进行了遗传关联研究。方法和结果我们通过遗传关联研究在台湾的262名KD患者队列中检查了整个谷氨酸受体家族。我们确定了谷氨酸受体离子型,kainate 1(GRIK1)是与KD中的CAA形成相关的新型易感性基因座。注意到诸如发热持续时间,第一静脉使用免疫球蛋白(IVIG)使用时间(发热第一天后的天数)和GRIK1(rs466013,rs425507和rs38700)遗传变异等因素在统计学上有显着差异。即使使用多元回归分析后,这种显着关联仍然持续存在(完整模型:对于rs466013:优势比= 2.12; 95%CI = 1.22-3.65;对于rs425507:优势比= 2.16; 95%CI = 1.26-3.76;对于rs388700:优势比率= 2.16; 95%CI = 1.26-3.76)。结论我们证明了GRIK1多态性与KD中的CAA形成有关,即使在调整发烧时间和IVIG使用时间的情况下,也可以作为KD中CAA形成的遗传标记。

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