Abstract
Purpose: :
The pathogenesis of age-related macular degeneration (AMD) is initiated by inflammation, in which formyl peptide receptor 1 (FPR1) is an important regulator. This study aims to explore the association of FPR1 gene with exudative AMD in a Hong Kong Chinese cohort.
Methods: :
A total of 155 exudative AMD patients and 220 age-matched control subjects from was recruited. All coding exons and exon-intron boundaries of the FPR1 gene were screened by polymerase chain reaction and direct sequencing.
Results: :
A total of 25 polymorphisms were identified. Eleven were novel. Three polymorphisms, c.289C>A (Leu97Met; p = 0.043), c.576T>G (Asn192Lys; p = 0.037) and c.1053+196C>T (p = 0.003), were associated with exudative AMD. However, the amino acid changes were not conserved across species in the multiple sequence alignment. In addition, 5 rare variants were found although their frequency in AMD patients was similar to that in control subjects (7/148 vs 17/203; p = 0.211).
Conclusions: :
This study revealed that the FPR1 gene is associated exudative AMD, further supporting the involvement of inflammation in AMD pathogenesis.
Keywords: age-related macular degeneration • inflammation • gene screening