We explored the occurrence of seven rare variants independently associated with AMD (<i>CFH</i> rs121913059 (p.Arg1210Cys), <i>CFI</i> rs141853578 (p.Gly119Arg), <i>C3</i> rs147859257 (p.Lys155Gln), and <i>C9</i> rs34882957 (p.Pro167Ser)) and three non-coding variants in or near the <i>CFH</i> gene (rs148553336, rs35292876, and rs191281603) in 24 AMD case-control studies.
Common variants in the complement component 3 (C3) gene have been associated with AMD and recently a rare C3 variant (Lys155Gln) was identified which exerts a large effect on AMD susceptibility independent of the common variants.