ARMS2 and HTRA1 gene polymorphisms in association with age-related macular degeneration in an Egyptian cohort. Issue 1 (January 2017)

• Record Type: Journal Article
• Authors: Elhamamsy, May; Souka, Ahmed; El Assi, Hoda H.; Ashraf, Mohammed; Kassem, Heba S.
• Is Part Of: Middle East journal of medical genetics. Volume 6:Issue 1(2017:Jan.)
• Publication Date: 2017-01
• Subjects: age-related macular degeneration -- ARMS2 -- HTRA1 -- polymorphism -- retina; Medical genetics -- Periodicals; Medical genetics -- Middle East -- Periodicals; Genetic disorders -- Periodicals; Genetic disorders -- Middle East -- Periodicals; Genetic Diseases, Inborn -- Middle East -- Periodicals; Genetics, Medical -- Middle East -- Periodicals; 616.042
• DOI: 10.1097/01.MXE.0000512347.39933.9c
• Languages: English
• ISSNs: 2090-8571

Abstract

Abstract : Introduction: Age-related macular degeneration (AMD) is a common polygenic disease in which multiple genetic variants, as well as environmental and lifestyle factors, contribute to disease risk synergistically, each adding a small to moderate amount of increased risk. ARMS2 and HTRA1 single-nucleotide polymorphisms (SNPs) (rs10490924 and rs11200638, respectively) have been reported to be strongly associated with an increased risk of AMD in several ethnic groups and different populations. There are not much data from the Egyptian population reporting such an association. Furthermore, the correlation between ARMS2 / HTRA1 SNPs and the specific subtypes of AMD has been recently described. We aimed in the present study to investigate ARMS2 / HTRA1 polymorphisms in a cohort of the Egyptian population residing in the northern governorates of Egypt as a pilot study to study the potential of existing association with various subtypes of AMD. Patients and methods: Genomic DNA was extracted from 40 sex-matched AMD patients and controls above 50 years. Genotyping was performed using real-time PCR by TaqMan assay for the detection of polymorphisms rs10490924 in the ARMS2 genes and rs11200638 in the HTRA1 gene. Results: The results of the study showed that ARMS2 rs10490924 was significantly associated with occurrence of AMD with the frequency of the risk allele T being 0.41 in patients and 0.2 in controls ( P =0.004); the odds ratio for the TT genotype was 14.706 [95% confidence interval (CI): 1.720–125.74] and for the TG genotype it was 1.366 (95% CI: 0.515–3.618). HTRA1 rs11200638 was also significantly associated with the disease risk. The risk allele A was found at a frequency of 0.41 in patients and 0.22 in controls, indicating potential risk of association ( P =0.011); odds ratio for the AA genotype was 4.902 (95% CI: 1.173–20.479) and for the GA genotype was 1.593 (95% CI: 0.587–4.320). In a subgroup analysis of patients with AMD, there was no significant difference observed between the different haplotypes in patients with wet ( n =24) and patients with dry ( n =16) AMD. Conclusion: The current study revealed that the ARMS2 SNP (rs10490924) (TT genotype) was significantly associated with AMD in the studied Egyptian population. The A allele frequency of HTRA1 (rs11200638) SNP was also significantly higher in the patient group. In the present study, there was no particular association between the studied SNPs and AMD subtypes.