Ann Rheum Dis:幼年特发性关节炎及其亚型的基因组风险评分

2020-09-20 xiangting MedSci原创

GRS可以帮助JIA的临床诊断,有利于高危个体优先进行随访和治疗。

幼年特发性关节炎(JIA)是一种自身免疫性疾病,是导致儿童残疾的常见病因。目前JIA的诊断是完全基于临床症状的,但其症状多变,从而经常有诊断和治疗的延误。尽管JIA具有明显的遗传性,但还没有基因组风险评分(GRSs)可用于JIA诊断。这项研究为JIA及其亚型构建了一种GRS。

研究分析了3个病例/对照队列(英国、美国和澳大利亚)的全基因组单核苷酸多态性(SNP)基因型。在英国队列的交叉验证中训练了GRS对JIA及其亚型的识别能力,并在其他队列中进行了外部验证。

研究结果如下:英国队列中,仅对JIA,GRS的受试者工作特征曲线下面积(AUC)为0.670,而在美国和澳大利亚队列中,AUC分别为0.657和0.671。在病例/对照的logistic回归中,GRS每1标准差(SD)的对应比值比(OR)为1.831(1.685-1.991)和2.008(1.731-2.345),调整性别或前10位遗传主要成分后,OR并未减小。将分析扩展到JIA亚型后发现,附着点炎相关性JIA的转诊时间最长,并且GRS对该亚型的预测能力最强:英国队列AUC为0.82;澳大利亚为0.84;美国为0.70。GRS在尤为常见的少关节炎型JIA中的表现优于JIA总体,AUC分别为0.72、0.74和0.77。

由此可见,GRS可以帮助JIA的临床诊断,有利于高危个体优先进行随访和治疗。与JIA的异质性一致,GRS在附着点炎相关性JIA和少关节炎型JIA中的表现最佳。

原始出处:

Rodrigo Cánovas. Genomic risk scores for juvenile idiopathic arthritis and its subtypes. Ann Rheum Dis. September 2020.

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