Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

Peer reviewedPublisher PD

Additional file 5: Table S4. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

Sensitivity analysis for C4A copy number association. (DOCX 17 kb

Additional file 6: Figure S2. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

Subgroup/sensitivity analysis in the pooled study of C4A copy number. Odds ratios and corresponding 95 % confidence intervals are given with the size of each rectangle representing the respective relative number of cases and controls in each subgroup. The protective effect of increasing C4A copy number is stronger in females and increases with age. Both effects can also be observed when conditioning on known AMD associated risk variants at the C2/CFB locus (rs429608, rs114190211, rs204993 and rs142511358 [9]) and are present in each of the individual studies. 95 % confidence intervals are indicated; N stands for the total number of individuals included in the analysis. (TIF 1946 kb

Additional file 9: Figure S4. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

AMD associated haplotypes at the C2/CFB locus on chromosome 6. The phase at C2/CFB was assessed with SHAPEIT2 for each individual. In total, we found six haplotypes (H1-H6) with an allele frequency ≥ 1 % in the study. The haplotypes are characterized by the presence or absence of AMD associated alleles from four inpendent variations at this locus (rs429608, rs114190211, rs204993 and rs142511358 [9]). C4A CNVs are predominantly present on the adverse haplotype H2 (carrying the G allele of rs204993) and the protective haplotype H3 (carrying the A allele of rs429608). OR = Odds ratio, [95 % CI] = 95 % confidence intervals, SD = standard deviation. The haplotypes were numbered according to their frequency. (TIF 2488 kb

Additional file 7: Figure S3. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

Sensitivity analysis for protective haplotype H3 at the C2/CFB locus. Phase at C2/CFB was assessed with SHAPEIT2 for each individual. Haplotypes are characterized by the presence or absence of AMD associated alleles from four inpendent variations at this locus (rs429608, rs114190211, rs204993 and rs142511358 [9]). Odds ratios and corresponding 95 % confidence intervals [95 % CI] are given with the size of each rectangle representing the respective relative number of cases and controls for each subgroup. The protective effect of haplotype H3 decreases with age (becomes less protective). (TIF 1225 kb