scholarly journals Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism

BMC Genomics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Hyung Jun Woo ◽  
Chenggang Yu ◽  
Kamal Kumar ◽  
Bert Gold ◽  
Jaques Reifman
Keyword(s):  
Macular Degeneration ◽  
Association Studies ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association ◽  
Collective Effects ◽  
Genome Wide Association Studies ◽  
Genotype Distribution ◽  
Disease Mechanism ◽  
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 Evaluation of Clustering and Genotype Distribution for Replication in Genome Wide Association Studies: The Age-Related Eye Disease Study

PLoS ONE ◽  
2008 ◽  
Vol 3 (11) ◽  
pp. e3813 ◽  
Author(s):  
Albert O. Edwards ◽  
Brooke L. Fridley ◽  
Katherine M. James ◽  
Anil S. Sharma ◽  
Julie M. Cunningham ◽  
...  
Keyword(s):  
Association Studies ◽  
Genome Wide Association ◽  
Eye Disease ◽  
Genome Wide Association Studies ◽  
Genotype Distribution ◽  
Age Related ◽  
Genome Wide ◽  
Disease Study
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