Fig. 7: Application of polygenic risk scores to Japanese SSc. | Nature Communications

Fig. 7: Application of polygenic risk scores to Japanese SSc.

From: GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

Fig. 7

Set 2 Japanese samples (734 cases and 110,504 controls) are stratified into 20 quantiles based on the individual polygenic risk scores (PRSs) calculated without prioritizing SNPs with the use of effect sizes of the European GWAS (a), without prioritizing SNPs with the use of effect sizes of the meta-analysis of the European (9095 cases and 17,584 controls) and Set 1 Japanese (694 cases and 2095 controls) dataset (b), or by prioritizing the top 5% of SNPs for IRF8-binding in RAMOS cells identified by IMPACT (see Methods for detail) and the lead SNPs of the meta-analysis with the use of the effect sizes of the meta-analysis (c). The odds ratio, the 95% confidence intervals, and the p-value of the top 5% quantile relative to those of median quantiles (the 10th and 11th quantile) are presented. The significant threshold is determined by Bonferroni correction (0.05/18). Source data are provided as a Source Data file.

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