Fig. 6: CFHR5fs is associated with thickness of retinal photoreceptor layers.
From: Loss of CFHR5 function reduces the risk for age-related macular degeneration
Shown are median effect sizes (dots) ± 95% CI (whiskers) of associations between indicated haplotype groups with thickness of the inner (ELM-ISOS, left) and outer (ISOS-RPE, right) segments of the retinal photoreceptor layer measured from optical coherence tomography (OCT) scans in UK Biobank (UKB) participants (see also Zekavat et al.32). AMD cases (n = 1083 out of 56,359 individuals with OCT data meeting quality control criteria and data available for analysis) were defined by the ICD-10 code H35.3 (see Supplementary Data 19). CFH protective haplotype carriers (n = 25,364) were defined as UKB participants carrying at least one of the protective alleles at rs1410996 and CFH p.Tyr402His (n-n-0-0) (see Supplementary Data 20). CFHR5fs carriers (n = 265) are designated as either n-n-0-1 or 2-2-0-1 (see Supplementary Data 21). No individuals in the analyzed UKB cohort carried CFHR5fs in a homozygous state.
