scholarly journals Age-related macular degeneration: genome-wide association studies to translation

2015 ◽  
Vol 18 (4) ◽  
pp. 283-289 ◽  
Author(s):  
James R. M. Black ◽  
Simon J. Clark
Keyword(s):  
Macular Degeneration ◽  
Association Studies ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Age Related ◽  
Genome Wide

scholarly journals Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration

Cells ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 2267
Author(s):  
Tobias Strunz ◽  
Christina Kiel ◽  
Bastian L. Sauerbeck ◽  
Bernhard H. F. Weber
Keyword(s):  
Macular Degeneration ◽  
Association Studies ◽  
Age Related Macular Degeneration ◽  
Gwas Data ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Age Related ◽  
Genome Wide ◽  
Follow Up Studies

Over the last 15 years, genome-wide association studies (GWAS) have greatly advanced our understanding of the genetic landscape of complex phenotypes. Nevertheless, causal interpretations of GWAS data are challenging but crucial to understand underlying mechanisms and pathologies. In this review, we explore to what extend the research community follows up on GWAS data. We have traced the scientific activities responding to the two largest GWAS conducted on age-related macular degeneration (AMD) so far. Altogether 703 articles were manually categorized according to their study type. This demonstrates that follow-up studies mainly involve “Review articles” (33%) or “Genetic association studies” (33%), while 19% of publications report on findings from experimental work. It is striking to note that only three of 16 AMD-associated loci described de novo in 2016 were examined in the four-year follow-up period after publication. A comparative analysis of five studies on gene expression regulation in AMD-associated loci revealed consistent gene candidates for 15 of these loci. Our random survey highlights the fact that functional follow-up studies on GWAS results are still in its early stages hampering a significant refinement of the vast association data and thus a more accurate insight into mechanisms and pathways.

scholarly journals Genetic Basis of Age-related Macular Degeneration

2011 ◽  
Vol 04 (02) ◽  
pp. 119
Author(s):  
Mohammad Othman ◽  
Kari Branham ◽  
John R Heckenlively ◽  
◽  
◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Complex Disease ◽  
Vision Loss ◽  
Association Studies ◽  
Developed Countries ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association Studies ◽  
Factors Affecting ◽  
Age Related ◽  
Genome Wide

Age-related macular degeneration (AMD) is the main cause of vision loss and impairment in the aging population in developed countries. It is clinically and genetically a complex disease with both environmental and genetic factors affecting the outcome of the disease. Other than the wet type of AMD, there is no treatment for the other forms of AMD. It is estimated that the number of AMD patients will double in the next decade, which will have a significant financial impact on the health system and will compete for health dollars. Understanding the role of genetics in the development of AMD is paramount to help with diagnosis and future treatment. Over the past few years, we have studied the genetics of AMD and reported modest to significant association between AMD and several genes including CFH, ARMS2, TLR4 and ApoE. Our recent genome-wide association studies confirmed these AMD susceptibility loci in addition to other genes in the complement system (C2, C3, CFB and CFI). Recent studies identified new loci near TIMP3 and HDL influencing susceptibility to AMD.

scholarly journals Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Thomas W. Winkler ◽  
Felix Grassmann ◽  
Caroline Brandl ◽  
Christina Kiel ◽  
Felix Günther ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Advanced Disease ◽  
Meta Analysis ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association ◽  
Early Age ◽  
Age Related ◽  
Genome Wide

scholarly journals Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

2020 ◽  
Vol 29 (12) ◽  
pp. 2022-2034 ◽  
Author(s):  
Rinki Ratnapriya ◽  
İlhan E Acar ◽  
Maartje J Geerlings ◽  
Kari Branham ◽  
Alan Kwong ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Exome Sequencing ◽  
Target Genes ◽  
Rare Variants ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association Studies ◽  
Age Related ◽  
Genome Wide ◽  
Candidate Target ◽  
Coding Variants

Abstract Genome-wide association studies (GWAS) have identified 52 independent variants at 34 genetic loci that are associated with age-related macular degeneration (AMD), the most common cause of incurable vision loss in the elderly worldwide. However, causal genes at the majority of these loci remain unknown. In this study, we performed whole exome sequencing of 264 individuals from 63 multiplex families with AMD and analyzed the data for rare protein-altering variants in candidate target genes at AMD-associated loci. Rare coding variants were identified in the CFH, PUS7, RXFP2, PHF12 and TACC2 genes in three or more families. In addition, we detected rare coding variants in the C9, SPEF2 and BCAR1 genes, which were previously suggested as likely causative genes at respective AMD susceptibility loci. Identification of rare variants in the CFH and C9 genes in our study validated previous reports of rare variants in complement pathway genes in AMD. We then extended our exome-wide analysis and identified rare protein-altering variants in 13 genes outside the AMD-GWAS loci in three or more families. Two of these genes, SCN10A and KIR2DL4, are of interest because variants in these genes also showed association with AMD in case-control cohorts, albeit not at the level of genome-wide significance. Our study presents the first large-scale, exome-wide analysis of rare variants in AMD. Further independent replications and molecular investigation of candidate target genes, reported here, would assist in gaining novel insights into mechanisms underlying AMD pathogenesis.

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