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Early idlytized arthritis (JIA) is an autoimmune disease that is a common cause of disability in children.
current diagnosis of JIA is based entirely on clinical symptoms, but their symptoms are variable, resulting in frequent delays in diagnosis and treatment.
although JIA is obviously hereditary, there is no genome risk score (GRSs) available for JIA diagnosis.
study built a GRS for JIA and its subsypes.
study analyzed the whole genome-wide single nucleotide polymorphism (SNP) genotype in three case/control queues (UK, US and Australia).
GRS' ability to identify JIA and its subsypes in cross-validation of UK queues, and external validation was performed in other queues.
the results were as follows: in the UK queue alone, the area under the working characteristic curve (AUC) of the GRS subjects was 0.670, while in the US and Australia the AUC was 0.657 and 0.671, respectively.
in case/control logistic regression, the ratio of GRS to standard deviation (SD) per 1 standard deviation (SD) was 1.831 (1.685-1.991) and 2.008 (1.731-2.345), or OR did not decrease after adjusting the sex or the top 10 genetic primary components.
extending the analysis to the JIA subtype, the
found that the associated JIA had the longest referral time and that GRS had the strongest predictive capacity for the subtype: 0.82 in the UK, 0.84 in Australia and 0.70 in the US.
GRS outperformed JIA as a whole in the less arthritis-less-arthritis type, with AUC at 0.72, 0.74 and 0.77, respectively.
can be seen that GRS can help JIA clinical diagnosis, is conducive to high-risk individuals priority follow-up and treatment.
consistent with the heterogeneity of JIA, GRS performed best in the attachment point inflammation-associated JIA and arthritis-less-type JIA.
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