scholarly journals Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

2019 ◽  
Vol 60 (12) ◽  
pp. 4041 ◽  
Author(s):  
Andrea R. Waksmunski ◽  
Michelle Grunin ◽  
Tyler G. Kinzy ◽  
Robert P. Igo ◽  
Jonathan L. Haines ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Candidate Gene ◽  
Pathway Analysis ◽  
Functional Data ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Genome Wide

scholarly journals Genome-wide analysis of disease progression in age-related macular degeneration

2018 ◽  
Vol 27 (5) ◽  
pp. 929-940 ◽  
Author(s):  
Qi Yan ◽  
Ying Ding ◽  
Yi Liu ◽  
Tao Sun ◽  
Lars G Fritsche ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Disease Progression ◽  
Age Related Macular Degeneration ◽  
Genome Wide Analysis ◽  
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.

scholarly journals A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

2015 ◽  
Vol 48 (2) ◽  
pp. 134-143 ◽  
Author(s):  
Lars G Fritsche ◽  
Wilmar Igl ◽  
Jessica N Cooke Bailey ◽  
Felix Grassmann ◽  
Sebanti Sengupta ◽  
...  
Keyword(s):  
Association Study ◽  
Macular Degeneration ◽  
Genome Wide Association Study ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association ◽  
Common Variants ◽  
Large Genome ◽  
Age Related ◽  
Genome Wide

scholarly journals Genome-wide analysis of copy number variants in age-related macular degeneration

2010 ◽  
Vol 129 (1) ◽  
pp. 91-100 ◽  
Author(s):  
Kacie J. Meyer ◽  
Lea K. Davis ◽  
Emily I. Schindler ◽  
John S. Beck ◽  
Danielle S. Rudd ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Copy Number ◽  
Copy Number Variants ◽  
Age Related Macular Degeneration ◽  
Genome Wide Analysis ◽  
Age Related ◽  
Genome Wide

Identification of Genome-Wide SNP–SNP and SNP–Clinical Boolean Interactions in Age-Related Macular Degeneration

2014 ◽  
pp. 217-255 ◽  
Author(s):  
Carlos Riveros ◽  
Renato Vimieiro ◽  
Elizabeth G. Holliday ◽  
Christopher Oldmeadow ◽  
Jie Jin Wang ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Genome Wide
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