The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration.

Abstract

PurposeTo study the association of the single nucleotide polymorphism (SNP) rs4073 in the interleukin‐8 (IL‐8) promoter region with the diagnosis and age of onset of exudative age‐related macular degeneration (AMD) in association with the known genetic risk factors for AMD and tobacco smoking.MethodsMedical records, smoking history and angiograms or fundus photographs of 301 patients with exudative AMD, 72 patients with dry AMD and 119 control subjects were analysed retrospectively. The associations of IL‐8 rs4073 A→T, CFH rs1061170 T→C, ARMS2 rs10490924 G→T and C3 rs2230199 C→G SNPs with the presence of AMD and with the age of onset of exudative AMD were analysed.ResultsYounger age of exudative AMD onset was associated with the homozygous AA genotype of IL‐8 rs4073 (p = 0.009, Mann–Whitney U‐test), CC genotype of CFH rs1061170 (p = 0.016), TT genotype of ARMS2 rs10490924 (p = 0.001) and with current smoking (p = 0.002). The risk alleles C in CFH rs1061170 (p < 0.0001, Pearson chi‐square) and T in ARMS2 rs10490924 (p < 0.0001), as well as smoking (p < 0.0001), were more prevalent in AMD patients compared with controls. No association was found between the IL‐8 rs4073 genotype and the presence of AMD.ConclusionOut of the factors associated with the earlier onset of exudative AMD, only the genotype of IL‐8 rs4073 did not appear as a risk factor for AMD in general. IL‐8 may have a role in accelerating the development of the choroidal neovascularization in exudative AMD.