title: Y402H polymorphism in complement factor H and age-related macular degeneration in the Tunisian population.
abstract: To evaluate a possible association between the complement factor H (CFH) Y402H polymorphism and susceptibility to age-related macular degeneration (AMD) in the Tunisian population, as well as the impact of the genotype distribution among different phenotypes and the response to treatment with intravitreal bevacizumab, exon 9 of CFH was analyzed for the Y402H polymorphism by direct sequencing in 135 healthy controls and 127 sporadic unrelated AMD patients classified into the following groups: 12 atrophic AMD (group G1), 115 exudative AMD (G2) and 10 AMD patients who had fibrovascular scarring (G3) that did not allow a precise grading of the phenotype. Seventy patients in G2 were treated with 1.25 mg intravitreal bevacizumab at 6-week intervals until choroidal neovascularization (CNV) was no longer active. The frequency of the CFH 402H allele was significantly higher in AMD patients than in controls (p = 2.62 × 10(-16)). However, subgroup analysis does not reveal any association between the variant allele H and phenotypes of AMD or CNV. Also, there was no significant difference in response to bevacizumab treatment according to Y402H CFH genotype (p = 0.59). A strong association of the 402H allele with susceptibility to AMD in the Tunisian population was confirmed; however, this variant does not appear to be involved in the clinical progression of this disease or in the postintravitreal bevacizumab response.
authors.affiliation: Immunology Research Laboratory of Kidney Transplantation and Immunopathology LR03SP01, University of Tunis El Manar, Charles Nicolle Hospital, Tunis 1006, Tunisia.
authors.forename: I
authors.initials: I
authors.lastname: Habibi
authors.forename: I
authors.initials: I
authors.lastname: Sfar
authors.forename: F
authors.initials: F
authors.lastname: Kort
authors.forename: H
authors.initials: H
authors.lastname: Aounallah-Skhiri
authors.forename: A
authors.initials: A
authors.lastname: Chebil
authors.forename: I
authors.initials: I
authors.lastname: Chouchene
authors.forename: R
authors.initials: R
authors.lastname: Bouraoui
authors.forename: R
authors.initials: R
authors.lastname: Limaiem
authors.forename: L
authors.initials: L
authors.lastname: Largheche
authors.forename: S
authors.initials: S
authors.lastname: Jendoubi-Ayed
authors.forename: M
authors.initials: M
authors.lastname: Makhlouf
authors.forename: T
authors.initials: T
authors.lastname: Ben Abdallah
authors.forename: K
authors.initials: K
authors.lastname: Ayed
authors.forename: L
authors.initials: L
authors.lastname: El Matri
authors.forename: Y
authors.initials: Y
authors.lastname: Gorgi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D020533:Angiogenesis Inhibitors / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D000068258:Bevacizumab; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D058449:Intravitreal Injections; D008268:Macular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014416:Tunisia; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D014792:Visual Acuity / Q000502:physiology
chemical_list: D020533:Angiogenesis Inhibitors; D061067:Antibodies, Monoclonal, Humanized; C493495:CFH protein, human; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000068258:Bevacizumab; D017242:Complement Factor H