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Xiao Ying Liang, Li jia Chen, Pancy O. Tam, Chi Chao Chan, Chi Pui Pang; Association of FPR1 with Exudative Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5253.
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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.
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.
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).
This study revealed that the FPR1 gene is associated exudative AMD, further supporting the involvement of inflammation in AMD pathogenesis.
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