Fig. 3: Four AMD risk variants at the CFH locus are strongly associated with FHR-4 levels. | Nature Communications

Fig. 3: Four AMD risk variants at the CFH locus are strongly associated with FHR-4 levels.

From: Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

Fig. 3

Schematic diagram of chromosome 1 showing the genes in the CFH locus and the genomic location of the eight established AMD risk variants from the large IAMDGC GWAS of AMD5 and rs6677604, a proxy for the previously reported AMD-protective CFHR1–3 deletion29 (a). Variant annotations are in red or blue depending on whether the corresponding minor allele is AMD deleterious or protective. The rare missense variant rs121913059 (1.3; R1210C) was only present heterozygously in a case individual from the Cambridge cohort, and therefore was not included in the genetic association analyses with the FHR-4/FH levels. b shows box plots (and corresponding data points) of FHR-4 levels by AMD status and SNP genotype for the four variants that showed significant associations (after Bonferroni correction) with FHR-4 levels (Table 2), in the Cambridge and EUGENDA cohorts combined. Each box plot depicts median value (central line), first quartile (lower bound line) and third quartile (upper bound line). Source data are provided as a Source Data file.

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