scholarly journals Genetic risk factors for late age-related macular degeneration in India

2017 ◽  
Vol 102 (9) ◽  
pp. 1213-1217 ◽  
Author(s):  
Anand Rajendran ◽  
Pankaja Dhoble ◽  
Periasamy Sundaresan ◽  
Vijayan Saravanan ◽  
Praveen Vashist ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Population Based ◽  
Geographic Atrophy ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Limited Data ◽  
Genetic Determinants ◽  
Single Nucleotide ◽  
Age Related ◽  
Disease Study

Background/AimsThere are limited data from India on genetic variants influencing late age-related macular degeneration (AMD). We have previously reported associations from a population-based study in India (the India age-related eye disease study (INDEYE)) of early AMD and single nucleotide polymorphisms (SNPs) in ARMS2/HTRA1 and no association with CFH, C2 or CFB. Late AMD cases were too few for meaningful analyses. We aimed to investigate SNPs for late AMD through case enrichment and extend the loci for early AMD.MethodsFundus images of late AMD hospital cases were independently graded by the modified Wisconsin AMD grading scheme. In total 510 cases with late AMD (14 geographic atrophy and 496 neovascular AMD (nvAMD)), 1876 with early AMD and 1176 with no signs of AMD underwent genotyping for selected SNPs. We investigated genotype and per-allele additive associations (OR and 95% CIs) with nvAMD or early AMD. Bonferroni adjusted P values are presented.ResultsWe found associations with nvAMD for CFHY402H variant (rs1061170) (OR=1.99, 95% CI 1.67 to 2.37, P=10−6), ARMS2 (rs10490924) (OR=2.94, 95% CI 2.45 to 3.52, P=10−9), C2 (rs547154) (OR=0.67, 95% CI 0.53 to 0.85, P=0.01), ABCA1 (rs1883025) (OR=0.77, 95% CI 0.65 to 0.92, P=0.04) and an SNP near VEGFA (rs4711751) (OR=0.64, 95% CI 0.54 to 0.77, P=10−3). We found no associations of TLR3 (rs3775291), CFD (rs3826945), FRK (rs1999930) or LIPC (rs10468017) or APOE ε4 alleles with nvAMD or early AMD, nor between early AMD and rs1883025 or rs4711751.ConclusionsThe major genetic determinants of nvAMD risk in India are similar to those in other ancestries, while findings for early AMD suggest potential differences in the pathophysiology of AMD development.

scholarly journals Pleckstrin-Homology-Domain-Containing Protein (PLEKHA1) gene and their association with age related macular degeneration (AMD) in Indian patients

2021 ◽  
Author(s):  
Divya Gupta ◽  
Shobhit Chawla ◽  
Shubha R Phadke
Keyword(s):  
Macular Degeneration ◽  
Indian Population ◽  
Population Based ◽  
Age Related Macular Degeneration ◽  
Pleckstrin Homology Domain ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Indian Patients ◽  
Age Related ◽  
Sequencing Method

Background: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly people. AMD is a multifactorial disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been found to be associated with AMD. Aim: This study was aimed to investigate the association of polymorphisms in PLEKHA1 rs4146894 (G>A) gene with age related macular degeneration (AMD) in Indian patients. Method: Genotyping for the PLEKHA1 rs4146894 (G>A) polymorphism performed in 121 AMD patients and 100 controls by polymerase chain reaction (PCR) and sequencing method. Results: This is the first study from India on PLEKHA1 rs4146894 (G>A) polymorphism. In this study, we did not get any change in DNA sequence by sequencing method. So, we can say that the risk allele of PLEKHA1 rs4146894 (G>A) polymorphism is not find in Indian population. On the other hand in Indian population the risk of A allele is not present, and this gene is not playing any significant contribution with AMD in Indian population. Conclusion: Very limited literatures are available for PLEKHA1 polymorphism in AMD patients, though, it is quite possible that the variation in the data shows population based differences. So, the present study raises the possibility that PLEKHA1 rs4146894 (G>A) polymorphism may not have a significant association with AMD in Indian patients.

Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population

2021 ◽  
pp. 112067212110026
Author(s):  
Pablo Gili ◽  
Leyre Lloreda Martín ◽  
José-Carlos Martín-Rodrigo ◽  
Naon Kim-Yeon ◽  
Laura Modamio-Gardeta ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Gene Polymorphisms ◽  
Age Related Macular Degeneration ◽  
Spanish Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exudative Amd ◽  
Age Related ◽  
Increased Risk

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

scholarly journals Single Nucleotide Polymorphisms in MCP-1 and Its Receptor Are Associated with the Risk of Age Related Macular Degeneration

PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49905 ◽  
Author(s):  
Akshay Anand ◽  
Neel Kamal Sharma ◽  
Amod Gupta ◽  
Sudesh Prabhakar ◽  
Suresh Kumar Sharma ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related

scholarly journals Analysis of Single Nucleotide Polymorphisms in theNOS2AGene and Interaction with Smoking in Age-Related Macular Degeneration

2010 ◽  
Vol 74 (3) ◽  
pp. 195-201 ◽  
Author(s):  
Juan A. Ayala-Haedo ◽  
Paul J. Gallins ◽  
Patrice L. Whitehead ◽  
Stephen G. Schwartz ◽  
Jaclyn L. Kovach ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related

scholarly journals Modern view on the etiopathogenesis of age-related macular degeneration and the role of molecular genetic determinants in it

2021 ◽  
Vol 9 (3) ◽  
pp. 21-27
Author(s):  
N.V. Malachkova ◽  
Mohammad Mashhour Mohammad Masa’deh ◽  
Osama Mohammad Miteb Al-Jarrah ◽  
H.P. Liudkevych ◽  
D.S. Sukhan
Keyword(s):  
Macular Degeneration ◽  
Vision Loss ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
High Specificity ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Genetic Determinants ◽  
Age Related

Age-related macular degeneration mainly affects the elderly and is one of the most common causes of rapidly progressive vision loss. Over more than 150 years of research, the scientific community has gone from understanding the macroscopic picture of the lesion, presumable identification of drusen as the main morphological manifestation of nosology, to detailed classifications and determine the role of genetic determinants in the etiopathogenesis of the disease — high specificity, the possibility of preventive analysis, and much unclear in the field of genetic diagnosis of eye diseases determine the accurate attention of specialized research groups to the early diagnosis using genetic analysis. The review article was aimed to systematize the information about possible links in the pathogenesis of age-related macular degeneration and identify potential polymorphisms that can initiate and modulate the activity of these links. During the study, we could find out five main mechanisms of damage to the vascular membrane of the eye itself, which are affected by single nucleotide polymorphisms. The hig­hest affinity was shown by genetic variants of separate sites of CFH (rs1061170), HTRA1 (rs11200638), TNF (rs1800629), VEGFA (rs2010963). Literature data obtained from foreign and national sources indexed by Scopus, Web of Science databases, in particular for the last 5 years, pay special attention to these areas as potential predictors or modifiers of pathological processes involved in the process of macular degeneration. Despite the large number of studies examining the predisposition, pathogenesis, diagnosis, and treatment of age-related macular degeneration to stop the spread of vision loss, only a few issues are understood thoroughly. Considering the successful cases of application of biological and gene therapy for the management of such patients, we see new horizons in the detailed study of molecular interactions that underlie the pathology. The review confirms the active role of polymorphisms in one of the most relevant pathological processes of the human eye.

Non-Nutritional Medical Treatments in Dry-Form (Non-Neovascular) Age-Related Macular Degeneration

2017 ◽  
pp. 145-148
Keyword(s):  
Macular Degeneration ◽  
Vision Loss ◽  
The Elderly ◽  
Geographic Atrophy ◽  
Age Related Macular Degeneration ◽  
Medical Treatments ◽  
Age Related ◽  
Dry Amd ◽  
Disease Study ◽  
Developed World

Age-related macular degeneration (AMD) is the major cause of blindness for the elderly population in the developed world. Although vision loss is mainly due to the neovascular form, dry AMD remains a challenge for ophthalmologists because of the lack of effective therapies. The Age-Related Eye Disease Study (AREDS) demonstrated the protective effect of dietary supplementation of antioxidants to slow down the progression of dry AMD. On the other hand, there has been no proven drug treatment for dry AMD to date. This review is aimed to discuss recent non-nutritional treatments for dry AMD and geographic atrophy.

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