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Analysis of SERPING1 and its association with age‐related macular degeneration

Analysis of SERPING1 and its association with age‐related macular degeneration
Abstract Purpose The genetics of age‐related macular degeneration (AMD) pathogenesis is a growing area of interest. In the last year a new potential association locus has been reported; SERPING1, a C1 inhibitor of the compliment pathway. We present our own assessment of the SERPING1 AMD‐risk locus. Methods Patients with exudative AMD (n=94) and age‐matched controls (n=95) were selected for study. All subjects were genotyped for the SERPING1 polymorphism identified as a new risk locus for AMD; rs2511989, IVS6‐865 g>a. Genotyping was determined by direct sequencing. Statistical analysis was attained using SPSS v15 (SPSS Inc.). Results Carriage of the G allele was raised in AMD group vs. controls (61.2% vs. 57.6%), but was not statistically significant (p=0.48). No significant associations were seen in genotype carriage between AMD and control groups (e.g. GG genotype, 40.4% vs. 30.4%, p=0.22). Conclusion No significant associations were seen between SERPING1 and AMD in this study. Only two published analyses have examined this potential association, and these studies produced conflicting results. While it appears SERPING1 mRNA is produced in the eye, the functional effects of the rs2511989 locus have yet to be determined. More work is needed to identify the biological role, if any, SERPING1 plays in the development of AMD.
- University of Bristol United Kingdom
Aged, 80 and over, Male, Genotype, Angiogenesis Inhibitors, Complement C1 Inactivator Proteins, Middle Aged, Polymorphism, Single Nucleotide, Macular Degeneration, Photochemotherapy, Humans, Female, Fluorescein Angiography, Complement C1 Inhibitor Protein, Aged
Aged, 80 and over, Male, Genotype, Angiogenesis Inhibitors, Complement C1 Inactivator Proteins, Middle Aged, Polymorphism, Single Nucleotide, Macular Degeneration, Photochemotherapy, Humans, Female, Fluorescein Angiography, Complement C1 Inhibitor Protein, Aged
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