Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57, which likely explains ∼43% of AMD in older adults.
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
It is demonstrated, for the first time, that a genetic susceptibility coupled with a modifiable lifestyle factor such as cigarette smoking confers a significantly higher risk of AMD than either factor alone.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.
- J. Haines, N. Schnetz-Boutaud, M. Pericak-Vance
- BiologyInvestigative Ophthalmology and Visual Science
PURPOSE Age-related macular degeneration (AMD) is a retinal degenerative disease that is the leading cause of blindness worldwide for individuals over the age of 60. Although the etiology of AMD…
Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration
In conclusion, a specific mitochondrial polymorphism previously implicated in other neurodegenerative phenotypes (4917G) appears to convey risk for AMD independent of recently discovered nuclear DNA polymorphisms.
Identification and Confirmation of an Exonic Splicing Enhancer Variation in Exon 5 of the Alzheimer Disease Associated PICALM Gene
- N. Schnetz-Boutaud, Joshua D Hoffman, Jared Coe, D. Murdock, M. Pericak-Vance, J. Haines
- BiologyAnnals of Human Genetics
- 1 November 2012
Examining the entire coding sequence of PICALM found no new variants, however, rs592297, a known coding synonymous SNP that is part of an exonic splice enhancer region in exon 5, is in strong linkage disequilibrium with rs3851179 and should be examined for functional significance in Alzheimer pathophysiology.
C3 R102G polymorphism increases risk of age-related macular degeneration.
While the strong LD between R102G and L314P makes it difficult to disentangle their individual effects on disease risk, the R 102G polymorphism acting alone provides the best model for disease in the authors' data.
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration.
Using Genetic Variation and Environmental Risk Factor Data to Identify Individuals at High Risk for Age-Related Macular Degeneration
This work rigorously designed and tested its models in three distinct datasets and sought to increase accuracy by using novel modeling strategies, including multifactor dimensionality reduction (MDR) and grammatical evolution of neural networks (GENN), in addition to the traditional logistic regression approach.
Examination of association of genes in the serotonin system to autism
Variation within genes on the serotonin pathway, particularly HTR3A, may have modest effects on autism risk, and genome-wide linkage scans in autism do not provide strong evidence for linkage to any specific gene within the pathway.