Genomes and Genes
Anita L Destefano
Affiliation: Boston University
- Replication of association between ELAVL4 and Parkinson disease: the GenePD studyAnita L Destefano
Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Crosstown Center, 3rd Floor, Boston, MA 02118, USA
Hum Genet 124:95-9. 2008..This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene...
- Pathway analysis following association studyJulius S Ngwa
Department of Biostatistics, School of Public Health, Boston University, 715 Albany Street, Boston, MA 02118, USA
BMC Proc 5:S18. 2011..The empirical enrichment method had lower power and higher type I error. Thus pathway analysis approaches may be useful in identifying biological pathways that influence disease outcomes...
- Identifying rare variants from exome scans: the GAW17 experienceSaurabh Ghosh
Human Genetics Unit, Indian Statistical Institute, Kolkata 700018, India
BMC Proc 5:S1. 2011....
- 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....
- Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham StudySudha Seshadri
The National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
BMC Med Genet 8:S15. 2007..We conducted a genome-wide association (GWA) and linkage analysis exploring the genetic basis of these endophenotypes in a community-based sample...
- PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD studyAnita L Destefano
Department of Neurology, Boston University Schools of Medicine and of Public Health, Boston, MA 02118, USA
Am J Hum Genet 70:1089-95. 2002....
- Bivariate heritability of total and regional brain volumes: the Framingham StudyAnita L Destefano
Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA
Alzheimer Dis Assoc Disord 23:218-23. 2009..These data extend current knowledge by showing that these 2 different types of magnetic resonance imaging measures do not share underlying genetic or environmental influences...
- Genome-wide scan for white matter hyperintensity: the Framingham Heart StudyAnita L Destefano
Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
Stroke 37:77-81. 2006..We performed a genome-wide linkage analysis to identify chromosomal regions that may harbor genes influencing WMH in a family-based sample of the Framingham Heart Study...
- Genome-wide scan for pulse pressure in the National Heart, Lung and Blood Institute's Framingham Heart StudyAnita L Destefano
Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, T418E, Boston, Mass 02118, USA
Hypertension 44:152-5. 2004..58). In conclusion, we have demonstrated a substantial genetic component to PP and have identified 4 chromosomal regions that may harbor genes influencing vascular stiffness...
- Genomewide linkage analysis to presbycusis in the Framingham Heart StudyAnita L Destefano
Department of Biostatistics, Boston University School of Public Health, MA 02118, USA
Arch Otolaryngol Head Neck Surg 129:285-9. 2003..To identify chromosomal regions that show evidence of linkage to age-associated hearing impairment (presbycusis) in humans...
- Polymorphisms in the promoter region of catalase gene and essential hypertensionXiao Feng Zhou
Center for Human Genetics, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
Dis Markers 21:3-7. 2005..In addition, the genetic factors that contribute to hypertension maybe different between ethnic groups...
- 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...
- Association of NEDD4L ubiquitin ligase with essential hypertensionChristopher J Russo
Center for Human Genetics, Boston University School of Medicine, 715 Albany St, Boston, MA 02118, USA
Hypertension 46:488-91. 2005..Thus, genetic variation in NEDD4L may play a role in the development or progression of some forms of abnormal blood pressure...
- Genomewide linkage study of modifiers of LRRK2-related Parkinson's diseaseJeanne C Latourelle
Boston University School of Medicine, Boston, Massachusetts, USA
Mov Disord 26:2039-44. 2011....
- Sequence variation of bradykinin receptors B1 and B2 and association with hypertensionJing Cui
Hypertension Section, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
J Hypertens 23:55-62. 2005..To identify variants in the complete genomic sequence of the two subtypes of bradykinin receptors: B1 (BDKRB1) and B2 (BDKRB2) and to examine the association of these variants with essential hypertension...
- The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD studyJeanne C Latourelle
Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
BMC Med 6:32. 2008..Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD...
- Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD studyChristopher F McNicoll
Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA
Mov Disord 23:1596-601. 2008..No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD...
- Genome-wide analysis of genetic loci associated with Alzheimer diseaseSudha Seshadri
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA
JAMA 303:1832-40. 2010..Genome-wide association studies (GWAS) have recently identified CLU, PICALM, and CR1 as novel genes for late-onset Alzheimer disease (AD)...
- Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whitesJing Cui
Department of Medicine, Hypertension Section, Boston, Massachusetts 02118, USA
Am J Hypertens 16:859-63. 2003..In this study, we further investigated this result by examining the phenylethanolamine N-methyltransferase (PNMT) gene, which is located at 17q21 within the region where we found linkage...
- Parental occurrence of stroke and risk of stroke in their children: the Framingham studySudha Seshadri
Department of Neurology, Boston University School of Medicine, 72 E Concord St, B602, Boston, MA 02118, USA
Circulation 121:1304-12. 2010..Data relating parental history of stroke to stroke risk in offspring remain surprisingly inconsistent, largely because of heterogeneity of study design and the absence of verified, as opposed to historical, data on parental stroke status...
- Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart StudyJemma B Wilk
Neurology Department, Boston University School of Medicine, Boston, MA 02118, USA
Hum Mol Genet 12:2745-51. 2003..This study supports the presence of a gene influencing pulmonary function on the q-terminus of chromosome 6 in the region of 184 cM (D6S503) to 190 cM (D6S281)...
- HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studiesJason M Laramie
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
Bioinformatics 23:2190-2. 2007..This strategy permits HaploBuild to construct more biologically relevant haplotypes that are not constrained by arbitrary length and contiguous orientation...
- Serum brain-derived neurotrophic factor and the risk for dementia: the Framingham Heart StudyGalit Weinstein
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts2The Framingham Heart Study, Boston, Massachusetts
JAMA Neurol 71:55-61. 2014..Some prior studies showed lower circulating BDNF in persons with Alzheimer disease (AD) compared with control participants; however, it remains uncertain whether reduced levels precede dementia onset...
- Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approachQiong Yang
Departments of Biostatistics, Boston University, Boston, Massachusetts, USA
BMC Genet 4:S29. 2003..A variance components model (SOLAR) was employed in the univariate approaches. A mixed regression model with polynomials was employed in the multivariate approach and implemented in SAS/IML...
- Sepiapterin reductase expression is increased in Parkinson's disease brain tissueJennifer E Tobin
Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118, USA
Brain Res 1139:42-7. 2007..While the association of SPR to PD is not strong enough to support that this is the PARK3 gene, this study further implicates a role for SPR in idiopathic PD...
- Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE ConsortiumStephanie Debette
Department of Neurology, Boston University School of Medicine, Boston, Mass, USA
Stroke 41:210-7. 2010..We performed meta-analysis of genome-wide association studies of white participants in 6 studies comprising the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium...
- 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...
- Genomewide association study for onset age in Parkinson diseaseJeanne C Latourelle
Boston University School of Medicine, Boston, MA, USA
BMC Med Genet 10:98. 2009..There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age...
- 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...
- Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseasesChuanhua Xing
Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
Eur J Hum Genet 24:1029-34. 2016..Comparison with imputed data with higher density also suggests that imputation helps but cannot replace genotyping, especially when imputation quality is low. ..
- Postmortem Interval Influences α-Synuclein Expression in Parkinson Disease BrainAlexandra Dumitriu
Department of Neurology, Boston University School of Medicine, Boston, MA 02119, USA
Parkinsons Dis 2012:614212. 2012..For short PMI, SNCA expression was increased in PD relative to control samples, whereas for long PMI, SNCA expression in PD was decreased relative to control samples...
- Genetic variants of WNK4 in whites and African Americans with hypertensionPorat M Erlich
Department of Medicine, Boston University School of Medicine, Boston, Mass, USA
Hypertension 41:1191-5. 2003..However, because the associated SNP does not appear to be a functional variant and the limitations of case/control association studies, confirmation of these results in additional cohorts is warranted...
- Risk of Parkinson's disease after tamoxifen treatmentJeanne C Latourelle
Department of Neurology, Boston University School of Medicine, 85 East Concord Street, Boston, MA 02118, USA
BMC Neurol 10:23. 2010..We compared the rate of PD in Danish breast cancer patients treated with tamoxifen to the rate among those not treated with tamoxifen...
- Estrogen-related and other disease diagnoses preceding Parkinson's diseaseJeanne C Latourelle
Department of Neurology, Boston University School of Medicine, Boston MA, USA
Clin Epidemiol 2:153-70. 2010..Indeed, the association between diseases need not be due only to estrogen-related factors, but due to similar disease processes from a variety of mechanisms...
- 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...
- A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart StudyJemma B Wilk
Boston University School of Medicine, B 601, 715 Albany Street, Boston, MA 02118, USA
Am J Respir Crit Care Med 167:1528-33. 2003..0. FEV1 and FVC were suggestively linked to regions on chromosome 18 with multipoint LOD scores of 2.4 for FEV1 and 1.5 for FVC at 31 cM (D18S843) and a LOD of 2.9 for FVC at 79 cM (D18S858)...
- Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritisJing Cui
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Mol Med 15:136-43. 2009..We identified a SNP in moderate linkage disequilibrium (LD) with HLA-DR3, which may influence anti-CCP titer independently of the HLA-SE...
- Novel microRNA discovery using small RNA sequencing in post-mortem human brainChristian Wake
Department of Neurology, Boston University School of Medicine, Boston, USA
BMC Genomics 17:776. 2016..More than 2700 human miRNAs have been identified and some are known to be associated with disease phenotypes and to display tissue-specific patterns of expression...
- Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortiumStephanie Debette
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts Institut National de la Santé et de la Recherche Médicale, Epidemiology, University of Bordeaux Department of Neurology, University Hospital of Bordeaux, Bordeaux, France Electronic address
Biol Psychiatry 77:749-63. 2015..Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting...
- Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's DiseaseVincent Chouraki
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
J Alzheimers Dis 53:921-32. 2016..Similar patterns were observed for IDI and NRI>0. In conclusion, a risk score incorporating common genetic variation outside the APOEɛ4 locus improved AD risk prediction and may facilitate risk stratification for prevention trials. ..
- Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart StudyGary F Mitchell
Cardiovascular Engineering, Inc, Holliston, Mass 01746, USA
Circulation 112:194-9. 2005..However, few prior community-based studies have evaluated the genetics of arterial stiffness and separate mean and pulsatile components of blood pressure...
- Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD studyMei Sun
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
Arch Neurol 63:826-32. 2006..The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD)...
- Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15Andreas Ziegler
Institut fur Medizinische Biometrie und Statistik, Universitatsklinikum Schleswig Holstein, Universitat zu Lubeck, Ratzeburger Allee 160, Lubeck, Germany
Genet Epidemiol 31:S51-60. 2007..However, improved implementations that are able to deal with hundreds of thousands of SNPs at a time are required...
- Is DFNA5 a susceptibility gene for age-related hearing impairment?Lut Van Laer
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Eur J Hum Genet 10:883-6. 2002..No significant differences in genotypes between good hearing and hearing impaired individuals could be detected in either study design. We conclude that there exists no strong association between DFNA5 and ARHI...
- Beowulf LINUX Cluster ComputerANITA DESTEFANO; Fiscal Year: 2003..abstract_text> ..