In a study of English and Scottish people with late-stage age-related macular degeneration, they found a significant positive association of this variant. With “a” designating this variant and “A” the reference allele, in the English cases: AA: 303, Aa: 242, aa: 45, controls: AA: 227, Aa: 109, aa: 14 — p = 5.9*10E-5 for the allele being associated. Replicating in Scottish subjects, cases: AA: 117, Aa: 100, aa: 22, controls: AA: 215, Aa: 103, aa: 14. p=5.0*10E-5 for allele being associated.
They estimate that the population attributable risk for this variant is 22%. Using combined data from both groups they find that the odds ratio for heterozygote carriers is 1.7 and for homozygotes is 2.6.