Research Topics
Genomes and GenesSpecies | Kylee L SpencerSummaryAffiliation: Vanderbilt University Country: USA Publications
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Detail Information
Publications
C3 R102G polymorphism increases risk of age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA
Hum Mol Genet 17:1821-4. 2008..17]. Therefore, while the strong LD between R102G and L314P makes it difficult to disentangle their individual effects on disease risk, the R102G polymorphism acting alone provides the best model for disease in our data...
Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibilityKylee L Spencer
Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA
Invest Ophthalmol Vis Sci 52:1748-54. 2011..Multiple linkage studies have found evidence suggestive of another AMD locus on chromosome 16p12 but the gene responsible has yet to be identified...
Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America
PLoS ONE 6:e17784. 2011....
Protective effect of complement factor B and complement component 2 variants in age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
Hum Mol Genet 16:1986-92. 2007..21, 95% confidence interval 0.11-0.39; P < 10(-4)). Likelihood ratio testing and conditional analyses in the case-control data set suggest that a weaker, independent protective effect exists for CC2 E318D...
Haplotypes spanning the complement factor H gene are protective against age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Invest Ophthalmol Vis Sci 48:4277-83. 2007..Besides the well-known risk imparted by carrying the Y402H variant in the complement factor H (CFH) gene on chromosome 1, recent evidence of the existence of protective haplotypes spanning CFH has been reported...
Deletion of CFHR3 and CFHR1 genes in age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Hum Mol Genet 17:971-7. 2008..The presence of protective haplotypes in CFH that do not carry the deletion, suggests that other protective variants in this region have yet to be discovered...
Complement factor H variant increases the risk of age-related macular degenerationJonathan L Haines
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Science 308:419-21. 2005..45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults...
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degenerationWilliam K Scott
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Ophthalmology 114:1151-6. 2007..To examine the potential gene-environment interaction between cigarette smoking and the complement factor H (CFH) T1277C polymorphism, 2 strong risk factors for age-related macular degeneration (AMD)...
