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Combined effects of genetic and non‐genetic risk factors affect response to ranibizumab in exudative age‐related macular degeneration
Author(s) -
Piermarocchi Stefano,
Miotto Stefania,
Colavito Davide,
Leon Alberta,
Segato Tatiana
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.12587
Subject(s) - ranibizumab , medicine , macular degeneration , choroidal neovascularization , factor h , family history , allele , risk factor , single nucleotide polymorphism , regimen , cohort , ophthalmology , genotype , complement system , bevacizumab , genetics , immunology , gene , chemotherapy , biology , antibody
Purpose To investigate whether genetic and non‐genetic risk factors influence 12‐month response to ranibizumab treatment for exudative age‐related macular degeneration ( AMD ). Methods A cohort of 94 Caucasian patients with unilateral exudative AMD received intravitreal ranibizumab. After a three‐injection loading phase, a PRN regimen was followed. Patients were genotyped for three single‐nucleotide polymorphisms: CFH rs1061170, ARMS 2 rs10490924 and C3 rs2230199. Non‐genetic risk factors [choroidal neovascularization ( CNV ) phenotype, smoking habit, hypertension and body mass index] were considered. The selected end‐point was the 12‐month variation of number of ETDRS letters. Results Complement factor H ( CFH ) risk alleles, smoking history and arterial hypertension each independently influenced treatment response, with worse 12‐month BCVA outcomes (p = 0.036, 0.037, 0.043, respectively). A significant cumulative effect of these risk factors was also observed: patients homozygous for the CFH risk alleles and with a positive smoking history showed a mean loss of 8.0 ETDRS letters (p = 0.010). Patients with CFH risk alleles, smoking history and hypertension had a mean loss of 13.9 ETDRS letters (p = 0.013). CNV phenotypes did not influence visual outcomes, nor were they associated with other genetic/non‐genetic risk factors. Conclusions Complement factor H risk alleles, smoking history and hypertension affect the mid‐term response to ranibizumab in exudative AMD .