Research Topics
Genomes and Genes | William K ScottSummaryAffiliation: Duke University Medical Center Country: USA Publications
| Collaborators
|
Detail Information
Publications
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...- 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)... - NOS2A and the modulating effect of cigarette smoking in Parkinson's diseaseDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 60:366-73. 2006..NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with cigarette smoking. We examined NOS2A for association with PD risk and age at onset (AAO) and for interaction with smoking... - Family-based case-control study of cigarette smoking and Parkinson diseaseW K Scott
Department of Medicine and Duke Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Neurology 64:442-7. 2005..To determine whether people with Parkinson disease (PD) are less likely to report a history of cigarette smoking than their unaffected siblings... 
Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22William K Scott
Department of Medicine, Duke University Medical Center, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA
Am J Hum Genet 73:1041-51. 2003..These results indicate that linkage to chromosome 9p is strongest in late-onset AD and that regions on chromosome 2q34 and 15q22 are linked to early-onset AD and very-late-onset AD, respectively...- Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotypeSofia A Oliveira
Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Neurogenetics 5:147-55. 2004..02). These results define the genes and regulatory regions included in this region of LD, containing an important susceptibility allele contributing to increased risk of neurodegeneration... - Analysis of European mitochondrial haplogroups with Alzheimer disease riskJoelle M van der Walt
Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 365:28-32. 2004..We suggest that variations within haplogroup U may be involved in AD expression in combination with environmental exposures or nuclear proteins other than APOE... - Association study of Parkin gene polymorphisms with idiopathic Parkinson diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC
Arch Neurol 60:975-80. 2003..CONCLUSIONS: These results suggest that these common variants of Parkin are not associated with PD in white patients, although Parkin mutations are known to cause early- and late-onset PD... - Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degenerationR Keith Shuler
Duke University Eye Center, Durham, North Carolina 27710, USA
Ophthalmology 115:520-4. 2008..To examine phenotypes of age-related macular degeneration (AMD) patients with the complement factor H (CFH) variant (Y402H, C allele at rs1061170)... - Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degenerationSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 78:852-64. 2006..We demonstrate, 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... - Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphismR Keith Shuler
Eye Center and Center for Human Genetics, Duke University, Durham, NC, USA
Arch Ophthalmol 125:63-7. 2007..To compare phenotypes of 2 age-related macular degeneration (AMD) susceptibility genes: LOC387715 and complement factor H (CFH)... - Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson diseaseSun J Kang
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Mov Disord 21:2175-80. 2006..02). No significant association was found in the male subset. Our results add to the evidence of involvement of MAOB in PD and suggest that the effect may be stronger in women... - Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degenerationR Keith Shuler
Duke University Eye Center, Durham, NC 27710, USA
Am J Ophthalmol 145:303-307. 2008..To examine phenotypes of age-related macular degeneration (AMD) patients with the LOC387715 variant (T allele at rs10490924, A69S)... - Complement factor H increases risk for atrophic age-related macular degenerationEric A Postel
Duke University Eye Center, Durham, North Carolina, USA
Ophthalmology 113:1504-7. 2006..To determine if the complement factor H gene (CFH) determines risk for development of geographic atrophy (GA)... - Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synucleinGaofeng Wang
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 82:283-9. 2008..We propose this is likely to be a common mechanism of genetic modulation of individual susceptibility to complex disease... - Age at onset in two common neurodegenerative diseases is genetically controlledYi-Ju Li
Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 70:985-93. 2002..62. These data suggest that a common gene affects AAO in these two common complex neurodegenerative diseases... - Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson diseaseYi Ju Li
Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Hum Mol Genet 12:3259-67. 2003..This is provocative given reports of the possible role of inflammation in these two neurodegenerative disorders... - The Q7R Saitohin gene polymorphism is not associated with Alzheimer diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 347:143-6. 2003..We found no evidence of significant association of this polymorphism with risk of AD using family-based and case-control tests of association... - Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12Silke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Genet 5:18. 2004..Chromosome-wide significance of increases in nonparametric multipoint lod scores in covariate-defined subsets relative to the overall sample was assessed by permutation... - Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathySilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Invest Ophthalmol Vis Sci 44:2868-75. 2003.... - Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson diseaseDana B Hancock
Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, NC, USA
Arch Neurol 64:576-80. 2007..To assess associations between Parkinson disease (PD) and putatively protective factors-smoking, caffeine (coffee, tea, and soft drinks), and nonsteroidal anti-inflammatory drugs (aspirin, ibuprofen, and naproxen)... - Joint effects of smoking history and APOE genotypes in age-related macular degenerationSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 11:941-9. 2005..Several studies have implicated the apolipoprotein E (APOE) gene as modulating AMD risk. The purpose of this study was to investigate whether APOE genotypes modify the smoking-associated risk of AMD... - Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's diseaseDana B Hancock
University Program in Genetics and Genomics, Duke University, Durham, NC 27710, USA
Neurogenetics 9:249-62. 2008..021) and rs1060826 (p = 0.013). These data implicate NOS1 and NOS2A as genetic risk factors for PD and demonstrate that their interactions with established environmental factors may modulate the environmental effects... - Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseasesYi Ju Li
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Neurobiol Aging 27:1087-93. 2006..These findings suggest the presence of genetic heterogeneity for GSTO1h's effect on AAO, and support GSTO1h's role in modifying AAO in these two disorders... - Parkin mutations and susceptibility alleles in late-onset Parkinson's diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 53:624-9. 2003..These findings suggest that mutations in Parkin contribute to the common form of PD and that heterozygous mutations, especially those lying in exon 7, act as susceptibility alleles for late-onset form of Parkinson disease... - Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missingAbee L Boyles
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Hered 59:220-7. 2005..Given the increasing popularity of high-density genome-wide SNP screens, inter-marker LD should be a concern in future linkage studies... - Pesticide exposure and risk of Parkinson's disease: a family-based case-control studyDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Neurol 8:6. 2008..Pesticides and correlated lifestyle factors (e.g., exposure to well-water and farming) are repeatedly reported risk factors for Parkinson's disease (PD), but few family-based studies have examined these relationships... - Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equationsDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Genet Epidemiol 31:883-93. 2007..g., population stratification) and the interpretation of its OR estimates... - Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 74:1121-7. 2004..0003), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (P=.0009). Our results strongly support FGF20 as a risk factor for PD... - Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) studyElizabeth R Hauser
Duke University Medical Center, Durham, NC 27710, USA
Am Heart J 145:602-13. 2003..CONCLUSIONS: Analyses such as these will have implications for stratifying populations for the statistical analysis of the genome scan and on the choice of covariates for the follow-up studies of the initial genome screen analysis... - Maternal lineages and Alzheimer disease risk in the Old Order AmishJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Genet 118:115-22. 2005..Therefore, we suggest that the genetic effect responsible for AD dementia in the affected Amish pedigrees is unlikely to be of mitochondrial origin and may be caused by nuclear genetic factors... - Comparing age-related macular degeneration phenotype in probands from singleton and multiplex familiesEric A Postel
Duke University Eye Center, Box 3802, Durham, NC 27710, USA
Am J Ophthalmol 139:820-5. 2005..To compare age-related macular degeneration (AMD) phenotype between probands in singleton and multiplex families to determine whether data from these two groups may be combined for consolidated genetic analyses... - Vitamin D receptor gene as a candidate gene for Parkinson diseaseMegan W Butler
Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC, USA
Ann Hum Genet 75:201-10. 2011..003) but not risk. The 3' end SNP has been associated with both MS and AD in previous studies. Our findings suggest VDR as a potential susceptibility gene and support an essential role of vitamin D in PD... - Searching for epistatic interactions in nuclear families using conditional linkage analysisSvati H Shah
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Genet 6:S148. 2005..Ordered subsets analysis (OSA) is a method for conditional linkage analysis using continuous covariates... - Mitochondrial polymorphisms significantly reduce the risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 72:804-11. 2003..45; 95% CI 0.22-0.93; P=.03). Our results suggest that ND3 is an important factor in PD susceptibility among white individuals and could help explain the role of complex I in PD expression... - Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analysesSun Hee Ahn
Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
PLoS Pathog 6:e1001088. 2010..These findings suggest that two genes, Tnfaip8 and Seh1l, may contribute to susceptibility to S. aureus in A/J mice, and represent promising candidates for human genetic susceptibility studies... - Population-based case-control association studiesDana B Hancock
Duke University Medical Center, Durham, North Carolina, USA
Curr Protoc Hum Genet . 2007..Readers are referred to basic texts on epidemiology for more details on general conduct of case-control studies... - A new locus for familial FSGS on chromosome 2pRasheed Gbadegesin
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
J Am Soc Nephrol 21:1390-7. 2010..These data support a new gene locus for familial FSGS on chromosome 2p15. Identification of the mutated gene at this locus may provide further insight into the disease mechanisms of FSGS... - Cytokine gene polymorphisms and the outcome of invasive candidiasis: a prospective cohort studyMelissa D Johnson
Duke University Medical Center, Durham, North Carolina, USA
Clin Infect Dis 54:502-10. 2012..Although clinical and microbiological factors affecting prognosis have been identified, the impact of genetic variation in the innate immune responses mediated by cytokines on outcomes of infection remains to be studied... - 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... - A genome-wide linkage analysis of dementia in the AmishDaniel W Hahs
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Am J Med Genet B Neuropsychiatr Genet 141:160-6. 2006..Our results identify regions of the genome that may harbor genes involved in a subset of dementia patients, in particular the North American Amish community... - 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... - 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... - Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the AmishJacob L McCauley
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
BMC Med Genet 7:19. 2006..The Amish communities located in Indiana and Ohio are relatively isolated populations that may have increased power to detect disease susceptibility genes... - Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6Jonathan L Haines
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Invest Ophthalmol Vis Sci 47:329-35. 2006..Identification of the underlying genes has been difficult, with both genomic screen (locational) and candidate gene (functional) approaches being used. The present study tested candidate genes for association with AMD... - 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... - Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12William K Scott
Ann Neurol 52:524; author reply 524. 2002 - Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1John J Neary
Departments of Nephrology, Beaumont Hospital, Dublin, Ireland
J Am Soc Nephrol 13:2052-7. 2002..The data provide evidence for a gene for familial MPGN on chromosome 1q...