title: Pharmacogenetic aspects in therapeutic management of subfoveal choroidal neovascularisation: role of factor XIII-A 185 T-allele.
abstract: In Western Countries, the occurrence of choroidal neovascularization (CNV) secondary to different forms of macular degeneration represents a common cause of blindness. Particularly, age-related macular degeneration (AMD) and pathologic myopia (PM) are the most frequent diseases related to CNV development. At present, the combined employment of drugs acting against vascular endothelial growth factor (anti-VEGF) and photodynamic therapy with verteporfin (PDT-V) is a promising therapeutic strategy for neovascular macular degenerations. However, this approach inevitably leads to an increase in health-resource utilization. In several clusters of patients treated for CNV, correlations among common gene polymorphisms implicated in coagulation- or complement-cascade and different levels of, respectively, post-PDT-V or post-anti-VEGF benefit have been reported. Factor XIII-A G185T substitution (rs5985), a frequent anti-thrombophilic genetic variant of Caucasian ethnic groups, unequivocally influences a worsening of the CNV responsiveness to PDT-V in patients affected by either AMD- or PM-related CNV. These coherent pharmacogenetic findings point out the opportunities to: i. optimize the eligibility criteria of PDT-V and, ii. customize the interventional strategy against CNV, for finally minimizing the socio-economic burden of neovascular macular degenerations.
authors.affiliation: Department of Ophthalmology, University of Ferrara, Ferrara, Italy. francesco.parmeggiani@unife.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Parmeggiani
authors.forename: Ciro
authors.initials: C
authors.lastname: Costagliola
authors.forename: Carlo
authors.initials: C
authors.lastname: Incorvaia
authors.forename: Adolfo
authors.initials: A
authors.lastname: Sebastiani
authors.forename: Donato
authors.initials: D
authors.lastname: Gemmati
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D020256:Choroidal Neovascularization / Q000188:drug therapy* / Q000209:etiology; D026122:Factor XIIIa / Q000235:genetics*; D005584:Fovea Centralis; D006801:Humans; D047728:Myopia, Degenerative / Q000235:genetics / Q000503:physiopathology; D010597:Pharmacogenetics / Q000639:trends; D010778:Photochemotherapy / Q000639:trends; D017319:Photosensitizing Agents / Q000494:pharmacology / Q000627:therapeutic use; D011110:Polymorphism, Genetic; D011166:Porphyrins / Q000494:pharmacology / Q000627:therapeutic use; D057285:Precision Medicine; D013927:Thrombosis / Q000209:etiology / Q000235:genetics; D042442:Vascular Endothelial Growth Factors / Q000037:antagonists & inhibitors; D000077362:Verteporfin; D057135:Wet Macular Degeneration / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: D017319:Photosensitizing Agents; D011166:Porphyrins; D042442:Vascular Endothelial Growth Factors; D000077362:Verteporfin; D026122:Factor XIIIa