Research Topics
Genomes and Genes
| Kathryn L LunettaSummaryAffiliation: Boston University Country: USA Publications
| Collaborators
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Detail Information
Publications
Two-stage approach for identifying single-nucleotide polymorphisms associated with rheumatoid arthritis using random forests and Bayesian networksYan Meng
Genetics Program, Department of Medicine, School of Medicine, Boston University, 715 Albany Street, Boston, Massachusetts 02118 USA
BMC Proc 1:S56. 2007..We evaluated the performance of this method using independent test data sets for up to 100 replicates...- Screening large-scale association study data: exploiting interactions using random forestsKathryn L Lunetta
Oscient Pharmaceuticals, Inc, formerly Genome Therapeutics Corporation, Waltham, Massachusetts, USA
BMC Genet 5:32. 2004.... - Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham StudyKathryn L Lunetta
The National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
BMC Med Genet 8:S13. 2007..Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span... 
Genetic association studiesKathryn L Lunetta
Department of Biostatistics, Boston University School of Public Health, 715 Albany St, Crosstown Center, 3rd Floor, Boston, MA 02118, USA
Circulation 118:96-101. 2008- Heritability of magnetic resonance imaging (MRI) traits in Alzheimer disease cases and their siblings in the MIRAGE studyKathryn L Lunetta
Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
Alzheimer Dis Assoc Disord 21:85-91. 2007..In the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study of AD-discordant siblings, MRI traits are heritable and are potential endophenotypes for genetic association studies... - The relation of genetic and environmental factors to systemic inflammatory biomarker concentrationsRenate B Schnabel
NHLBIs Framingham Heart Study, Framingham, MA 01702 5827, USA
Circ Cardiovasc Genet 2:229-37. 2009..In the family-based Framingham Heart Study, we investigated heritability and candidate gene associations of systemic inflammatory biomarkers... - Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspringChao Yu Guo
Department of Mathematics and Statistics, Boston University, Boston, MA 02215, USA
Genet Epidemiol 31:115-33. 2007..Applying the i-TDT to the Framingham Heart Study data, we found that the apolipoprotein E (APOE) gene is significantly linked and associated with cross-sectional measures and longitudinal changes in total cholesterol... - Clinical and genetic factors associated with lipoprotein-associated phospholipase A2 in the Framingham Heart StudyRenate Schnabel
The NHLBI s Framingham Heart Study, Framingham, MA 01702 5827, USA
Atherosclerosis 204:601-7. 2009..Higher circulating Lp-PLA(2) predicts cardiovascular disease risk, but sources of inter-individual variability are incompletely understood... - Comprehensive search for Alzheimer disease susceptibility loci in the APOE regionGyungah Jun
Department of Medicine Biomedical Genetics, Boston University Schools of Medicine and Public Health, Boston, MA, USA
Arch Neurol 69:1270-9. 2012.... - Serum paraoxonase activity is associated with variants in the PON gene cluster and risk of Alzheimer diseasePorat M Erlich
Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
Neurobiol Aging 33:1015.e7-23. 2012..Our results suggest that low serum paraoxonase activity is a risk factor for AD. Furthermore, multiple variants in PON influence serum paraoxonase activity and their effects may be synergistic... - Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease familiesKaren T Cuenco
Department of Medicine, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA
Neurobiol Aging 32:249-56. 2011..Results for the other MRI traits were unremarkable. This study highlights the potential value of neuroimaging endophenotypes as a tool for finding genes influencing AD pathogenesis... - Meta-analysis identifies six new susceptibility loci for atrial fibrillationPatrick T Ellinor
Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, Massachusetts, USA
Nat Genet 44:670-5. 2012..The identified loci implicate candidate genes that encode transcription factors related to cardiopulmonary development, cardiac-expressed ion channels and cell signaling molecules... - Genome-wide association with bone mass and geometry in the Framingham Heart StudyDouglas P Kiel
Hebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA, USA
BMC Med Genet 8:S14. 2007..There have been no genome-wide association and linkage studies for these traits using high-density genotyping platforms... - Assessment of cortical and striatal involvement in 523 Huntington disease brainsTiffany C Hadzi
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
Neurology 79:1708-15. 2012..To evaluate the relationship of striatal involvement in Huntington disease (HD) to involvement in other brain regions, CAG repeat size, onset age, and other factors... - Performance of random forest when SNPs are in linkage disequilibriumYan A Meng
Department of Medicine, Boston University, MA, USA
BMC Bioinformatics 10:78. 2009.... - The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reportsL Adrienne Cupples
National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
BMC Med Genet 8:S1. 2007.... - Relations of inflammatory biomarkers and common genetic variants with arterial stiffness and wave reflectionRenate Schnabel
National Heart Lung and Blood Institute Framingham Study, Framingham, Mass, USA
Hypertension 51:1651-7. 2008..Additional studies are needed to determine whether variation in inflammatory marker genes is associated with tonometry measures... - Polymorphisms in the PON gene cluster are associated with Alzheimer diseasePorat M Erlich
Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
Hum Mol Genet 15:77-85. 2006..The most significantly associated haplotype comprised SNPs in the region spanning the -161[C/T] SNP (P=0.00009). Our results demonstrate association between AD and variants in the PON gene cluster in Caucasians and African Americans... - Genome-wide association with select biomarker traits in the Framingham Heart StudyEmelia J Benjamin
The National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
BMC Med Genet 8:S11. 2007..Genome-wide association studies (GWAS) provide mechanisms to investigate the genetic contributions to biomarker variability unconstrained by current knowledge of physiological relations... 
Evaluation of methods accounting for population structure with pedigree data and continuous outcomesGina M Peloso
Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA
Genet Epidemiol 35:427-36. 2011..efficient score test performs very well. When computational time is not an issue, a linear mixed effects model adjusting for genetic principal components tends to have slightly better power than the score test and may be preferred...- Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer diseaseKaren T Cuenco
Genetics Program, Department of Medicine, Room L320, Boston University School of Medicine, 715 Albany St, Boston, MA 02118, USA
Arch Neurol 65:1640-8. 2008.... - A comparison of gene region simulation methodsAudrey E Hendricks
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America
PLoS ONE 7:e40925. 2012..Here we compare the ability of three approaches to accurately simulate the LD within a gene region: HapSim (2005), Hapgen (2009), and a minor extension to simple haplotype resampling... - Multiple loci influencing hippocampal degeneration identified by genome scanScott A Melville
Department of Medicine, Boston University School of Medicine, MA, USA
Ann Neurol 72:65-75. 2012..We conducted a 2-stage GWAS for AD-related quantitative measures of hippocampal volume (HV), total cerebral volume (TCV), and white matter hyperintensities (WMH)... - Large-scale candidate gene analysis in whites and African Americans identifies IL6R polymorphism in relation to atrial fibrillation: the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe) projectRenate B Schnabel
National Heart, Lung, and Blood Institute s Framingham Heart Study, Framingham, MA, USA
Circ Cardiovasc Genet 4:557-64. 2011..The genetic background of atrial fibrillation (AF) in whites and African Americans is largely unknown. Genes in cardiovascular pathways have not been systematically investigated... - Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controlsChao Yu Guo
Clinical Research Program, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Genet Epidemiol 33:54-62. 2009..J. Hum. Genet. 64:1186-1193). In addition, simulation results suggest that the combined haplotype relative risk is more powerful than Epstein et al.'s method regardless of the disease prevalence in a homogeneous population... - Identifying SNPs predictive of phenotype using random forestsAlexandre Bureau
Department of Human Genetics, Oscient Pharmaceuticals, Waltham, Massachusetts, USA
Genet Epidemiol 28:171-82. 2005..SNPs and SNP pairs highly associated with asthma tend to have the highest importance index value, but predictive importance and association do not always coincide... - Common variants in KCNN3 are associated with lone atrial fibrillationPatrick T Ellinor
1 Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA 2 Cardiac Arrhythmia Service, Massachusetts General Hospital, Boston, Massachusetts, USA 3 Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA 4 These authors contributed equally to this work
Nat Genet 42:240-4. 2010..52, 95% CI 1.40-1.64; P = 1.83 x 10(-21)). rs13376333 is intronic to KCNN3, which encodes a potassium channel protein involved in atrial repolarization... - A comprehensive genetic association study of Alzheimer disease in African AmericansMark W Logue
Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
Arch Neurol 68:1569-79. 2011..To evaluate the association of genetic variation with late-onset Alzheimer disease (AD) in African Americans, including genes implicated in recent genome-wide association studies of whites... - The search for longevity and healthy aging genes: insights from epidemiological studies and samples of long-lived individualsJoanne M Murabito
Framingham Heart Study, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA
J Gerontol A Biol Sci Med Sci 67:470-9. 2012..We expect these ongoing collaborations and the translational work with basic scientists to accelerate the identification of genes that delay aging and promote a healthy life span... - Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents triosChao Yu Guo
Department of Mathematics and Statistics, Boston University, Boston, Mass 02215, USA
Hum Hered 59:125-35. 2005..We illustrate the proposed method with an application to the Framingham Heart Study... - Choice of population structure informative principal components for adjustment in a case-control studyGina M Peloso
Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston MA 02118, USA
BMC Genet 12:64. 2011..A thorough examination of selecting PCs for adjustment in a case-control study across the possible structure scenarios that could occur in a genome-wide association study has not been previously reported... - Common variants at 30 loci contribute to polygenic dyslipidemiaSekar Kathiresan
Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Nat Genet 41:56-65. 2009..These results suggest that the cumulative effect of multiple common variants contributes to polygenic dyslipidemia... - Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)Audrey E Hendricks
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA
Am J Med Genet A 149:1375-81. 2009..These estimates may be useful in genetic counseling for male high normal allele carriers... - Frailty models: Applications to biomedical and genetic studiesUsha S Govindarajulu
Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Stat Med 30:2754-64. 2011..Examples of analyses using multivariate frailty models in a non-parametric hazards setting on biomedical datasets are provided, and the implications of choosing to use frailty and relevance to genetic applications are discussed... - Demonstrating stratification in a European American populationCatarina D Campbell
Program in Genomics and Division of Endocrinology, Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
Nat Genet 37:868-72. 2005..The failure of standard methods to detect this stratification indicates that new methods may be required... - Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestryEmelia J Benjamin
National Heart, Lung, and Blood Institute s Framingham Heart Study, Framingham, Massachusetts, USA
Nat Genet 41:879-81. 2009..19; P = 2.3 x 10(-7)). We replicated this association in an independent cohort from the German AF Network (odds ratio = 1.44; P = 1.6 x 10(-11); combined RR = 1.25; combined P = 1.8 x 10(-15))... - A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulationAndrea D Coviello
Section of Preventive Medicine and Epidemiology, Boston University School of Medicine, Boston, Massachusetts, United States of America
PLoS Genet 8:e1002805. 2012..The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance... - Functional polymorphisms in UDP-glucuronosyl transferases and recurrence in tamoxifen-treated breast cancer survivorsThomas P Ahern
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Cancer Epidemiol Biomarkers Prev 20:1937-43. 2011..We measured the association between functional polymorphisms in key UGTs (UGT2B15*2, UGT2B7*2, and UGT1A8*3) and the recurrence rate among breast cancer survivors... - Principal-component-based population structure adjustment in the North American Rheumatoid Arthritis Consortium data: impact of single-nucleotide polymorphism set and analysis methodGina M Peloso
Department of Biostatistics, Boston University School of Public Heath, Crosstown Center, 801 Massachusetts Avenue, 3rd Floor, Boston, Massachusetts 02118 USA
BMC Proc 3:S108. 2009.... - Testing for population subdivision and association in four case-control studiesKristin G Ardlie
Genomics Collaborative, 99 Erie Street, Cambridge, MA, 02139, USA
Am J Hum Genet 71:304-11. 2002..We explore the role that extreme differences in power among studies, due to sample size and risk-allele frequency differences, may play in the replication problem... - The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer diseaseEkaterina Rogaeva
Centre for Research in Neurodegenerative Diseases, Department of Medicine, Department, University of Toronto, Toronto, Ontario, Canada
Nat Genet 39:168-77. 2007..These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease... - Estrogen receptor alpha gene variation is associated with risk of myocardial infarction in more than seven thousand men from five cohortsAmanda M Shearman
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
Circ Res 98:590-2. 2006..44; P<0.0001), after adjustment for established cardiovascular risk factors. After exclusion of younger subjects from 2 cohorts, because of age interaction, the odds ratio increased (to 1.63)...