الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
ARMS2 and HTRA1 SNPS have shown increased risk to AMD in several ethnic groups and populations. Data from the Egyptian population has been relatively lacking. Furthermore association of ARMS2/HTRA1 and specific subtypes of AMD has been recently described. In our study we aimed to look at ARMS2/HTRA1 in the Egyptian population as well as its association with various subtypes of AMD.
Genomic DNA was extracted from 40 AMD patients and 40 controls. Genotyping was performed using real time PCR for the Single Nucleotide Polymorphisms rs10490924 in the ARMS2 gene and rs11200638 in the HTRA1 gene.
ARMS2 rs10490924 was found to be significantly associated with AMD with the frequency of the risk allele T being 0.41 in patients and 0.2 in controls (p 0.004*). The OR for the TT genotype was 14.706 (95% CI: 1.720 -125.74), for the TG genotype was 1.366 (95% CI: 0.515-3.618) and for combined TG/TT genotypes was 2.255 (95% CI: 0.92-5.524). HTRA1 rs11200638 also was significantly associated, with the risk allele A found at a frequency of 0.41 in patients and 0.22 in controls (p 0.011*). OR for the AA genotype was 4.902(95% CI: 1.173 – 20.479), for the GA genotype was 1.593 (95% CI: 0.587- 4.320) and for the combined GA/AA genotypes was 2.255 (95% CI: 0.920-5.524). In a subgroup analysis of patients with AMD there was no significant difference between the different haplotypes in patients with wet (n=24) and patients with dry (n=16) AMD.
Our study concluded that ARMS2 (rs10490924) is significantly associated with AMD in the Egyptian population. HTRA1 (rs11200638) although associated with increased risk did not achieve sufficient significance statistically ,however showed additive effect with ARMS2 . There was no predilection for any particular polymorphism and clinicopathologic subtype of AMD.