Fig. 1: Conditional analysis of the CFH region reveals four major independent AMD signals. | Nature Communications

Fig. 1: Conditional analysis of the CFH region reveals four major independent AMD signals.

From: Loss of CFHR5 function reduces the risk for age-related macular degeneration

Fig. 1: Conditional analysis of the CFH region reveals four major independent AMD signals.The alternative text for this image may have been generated using AI.

Finemapping and conditional analyses of genome-wide significant lead signals (FG lead) within the CFH region (chr1:196,328,000–197,014,000; hg38) from a FinnGen (DF12) genome-wide association study (GWAS) for age-related macular degeneration (AMD) with 12,495 cases and 461,686 controls (see Supplementary Data 1 and https://r12.finngen.fi/pheno/H7_AMD). a Positions of coding genes, FG GWAS lead SNPs, and previously analyzed3,17 regional AMD GWAS signals (1.1–1.8). Conditionally independent signals (FGAMD1–4) in high linkage disequilibrium with presumably causal CFH and CFHR5 variants are highlighted in green. b Association p values from univariate and two rounds of conditional (cond) analyses. “True” associations representing the major conditionally independent signals are highlighted in green. For details, see Methods and Supplementary Data 3. “GWAS lead” is based on Fritsche et al.3, MAF minor allele frequency, n.a. not analyzed, n.i. not imputed.

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