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. 2024 Mar 4;15:1972. doi: 10.1038/s41467-024-46063-8

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© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024

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Fig. 5 — a Schematic representation of colocalization analysis of AMD GWAS with retina mQTL or eQTL. b Schematic representation of multiple trait colocalization analysis of AMD GWAS, retina mQTL and eQTL. c Lolliplot depicting the target genes identified in the multiple trait colocalization analysis (moloc) of AMD GWAS, retina mQTL and eQTL. The colors correspond to genes on different chromosomes. d LocusZoom plots of AMD GWAS (genotype and GWAS association), CpG cg05475770 mQTLs (genotype and cg05475770 methylation association), and TMEM259 eQTLs (genotype and TMEM259 expression association). The y axis shows −log₁₀(P-value) of association tests from GWAS, mQTLs and eQTLs. Points are color coded based on LD (r²) relative to the variant with highest colocalization posterior probability in the locus, rs67538026, identified in moloc analysis of AMD GWAS, mQTLs and eQTLs (GEM). e LocusZoom plots of AMD GWAS (genotype and GWAS association), CpG cg21565421 mQTLs (genotype and cg21565421 methylation association), and MPI eQTLs (genotype and MPI expression association). The y axis shows −log₁₀(P value) of association tests from GWAS, mQTLs and eQTLs. Points are color coded based on LD (r²) relative to the variant with highest colocalization posterior probability in the locus, rs11072507, identified in moloc analysis of AMD GWAS, mQTLs and eQTLs (GEM). f Venn-diagram representing common and unique CpGs identified in associations between retina eQTLs and mQTLs using moloc (EM_coloc), CpGs identified in associations between retina eQTLs and mQTLs using SMR (E2M_SMR), and CpGs identified in associations between retina mQTLs and eQTLs using SMR (M2E_SMR). g Venn-diagram representing common and unique target genes identified in associations between retina eQTLs and mQTLs using coloc (EM_coloc), genes identified in associations between retina eQTLs and mQTLs using SMR (E2M_SMR), and genes identified in associations between retina mQTLs and eQTLs using SMR (M2E_SMR).