Extended Data Fig. 1: Comparison of the effect sizes for genome-wide significant independent SNPs by known loci and previously unknown loci. | Nature Genetics

Extended Data Fig. 1: Comparison of the effect sizes for genome-wide significant independent SNPs by known loci and previously unknown loci.

From: Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

Extended Data Fig. 1

a, Plot showing effect sizes for known genome-wide significant independent SNPs identified from the POAG multi-trait GWAS in European ancestry versus glaucoma GWAS in 23andMe. b, Plot showing 81 previously unknown genome-wide significant independent SNPs identified from the POAG multi-trait GWAS in European ancestry versus glaucoma GWAS in 23andMe. The Pearson’s coefficient is 0.94 (P = 1.42 × 10−38). c, Plot showing effect sizes for known genome-wide significant independent SNPs identified from the POAG multi-ancestry meta-analysis versus glaucoma GWAS in 23andMe. d, Plot showing 109 previously unknown genome-wide significant independent SNPs identified from POAG multi-ancestry meta-analysis versus glaucoma GWAS in 23andMe. The Pearson’s coefficient is 0.939 (P = 1.57 × 10−48). For the 81 previously unknown genome-wide significant independent SNPs identified from the POAG multi-trait GWAS in European ancestry, the replication rates in an independent cohort using 23andMe were: 38% SNPs (n = 31) passed the genome-wide significance level (P < 5 × 10−8) in the 23andMe study, 73% SNPs (n = 59) were significant after Bonferroni correction (P < 0.00062), and 96% SNPs (n = 78) reached a nominal significance level (P < 0.05). For the 109 previously unknown genome-wide significant independent SNPs identified from POAG multi-ancestry meta-analysis, the replication rates in an independent cohort using 23andMe were: 38% SNPs (n = 39) passed the genome-wide significance level (P < 5 × 10−8) in the 23andMe study, 66% SNPs (n = 68) were significant after Bonferroni correction (P < 0.0005), and 96% SNPs (n = 99) reached a nominal significance level (P < 0.05). The dots show the effect sizes of SNPs, and the error bars show the 95% confidence interval of the estimations of SNP effect sizes.

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