Heterozygotes significantly differentiated from non-carriers for both CP (p = 0.0071) and AP (p = 0.0007) only in AMD cases, but not in unaffected controls (Supplementary Fig. 8), and in the overall cohort showed a tendency towards intermediate effects between homozygotes and non-carriers (Fig. 5b). This evidence concerns the gene DHCR7-DT and age-related macular degeneration.