N. Schnetz-Boutaud

Publications74
h-index23
Citations5,444
Highly Influential Citations153
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Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
TLDR
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.
TLDR
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
TLDR
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.
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
TLDR
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.
C3 R102G polymorphism increases risk of age-related macular degeneration.
TLDR
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.
Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10
TLDR
Genetic variations in PTPLA and SORCS1 may be associated and have modest effect to the risk of AD by affecting Aβ pathway, according to the concept of genomic convergence.
Duplex DNA catalyzes the chemical rearrangement of a malondialdehyde deoxyguanosine adduct.
TLDR
The results document the ability of duplex DNA to catalyze the transformation of one adduct into another, which may have important consequences for mutagenesis and repair.
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration.
TLDR
It is suggested that cigarette smoking and T1277C are independent risk factors for AMD and that both risk factors are associated more strongly with neovascular AMD than all forms of AMD combined.
Using Genetic Variation and Environmental Risk Factor Data to Identify Individuals at High Risk for Age-Related Macular Degeneration
TLDR
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.
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