Josee Dupuis

Summary

Affiliation: Boston University
Country: USA

Publications

  1. pmc Genome-wide association and linkage analysis of quantitative traits: comparison of likelihood-ratio test and conditional score statistic
    Audrey E Hendricks
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Talbot Building, Boston, Massachusetts 02118 USA
    BMC Proc 3:S100. 2009
  2. pmc The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports
    L Adrienne Cupples
    National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
    BMC Med Genet 8:S1. 2007
  3. pmc Genome-wide association with select biomarker traits in the Framingham Heart Study
    Emelia J Benjamin
    The National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
    BMC Med Genet 8:S11. 2007
  4. pmc Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
    Caroline S Fox
    The National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
    BMC Med Genet 8:S18. 2007
  5. pmc Mapping complex traits using Random Forests
    Alexandre Bureau
    Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA
    BMC Genet 4:S64. 2003
  6. pmc Handling linkage disequilibrium in qualitative trait linkage analysis using dense SNPs: a two-step strategy
    Kelly Cho
    Departments of Genetics and Biostatistics, Yale University Schools of Medicine and Public Health, New Haven, CT 06520 8034, USA
    BMC Genet 10:44. 2009
  7. pmc Mapping quantitative traits in unselected families: algorithms and examples
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Genet Epidemiol 33:617-27. 2009
  8. ncbi request reprint Genome scan of systemic biomarkers of vascular inflammation in the Framingham Heart Study: evidence for susceptibility loci on 1q
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
    Atherosclerosis 182:307-14. 2005
  9. ncbi request reprint Effect of linkage disequilibrium between markers in linkage and association analyses
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
    Genet Epidemiol 31:S139-48. 2007
  10. pmc A unified framework for linkage and association analysis of quantitative traits
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Proc Natl Acad Sci U S A 104:20210-5. 2007

Detail Information

Publications72

  1. pmc Genome-wide association and linkage analysis of quantitative traits: comparison of likelihood-ratio test and conditional score statistic
    Audrey E Hendricks
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Talbot Building, Boston, Massachusetts 02118 USA
    BMC Proc 3:S100. 2009
    ..In this paper we compare a linkage score and association score test as well as a newly proposed combination of these two scores with traditional linkage and association methods...
  2. pmc The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports
    L Adrienne Cupples
    National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
    BMC Med Genet 8:S1. 2007
    ....
  3. pmc Genome-wide association with select biomarker traits in the Framingham Heart Study
    Emelia 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...
  4. pmc Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
    Caroline S Fox
    The National Heart Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
    BMC Med Genet 8:S18. 2007
    ..We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study...
  5. pmc Mapping complex traits using Random Forests
    Alexandre Bureau
    Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA
    BMC Genet 4:S64. 2003
    ..Random Forest was able to identify a few of the major genes influencing the phenotypes, such as baseline HDL and triglycerides, but failed to identify the major genes regulating baseline glucose levels...
  6. pmc Handling linkage disequilibrium in qualitative trait linkage analysis using dense SNPs: a two-step strategy
    Kelly Cho
    Departments of Genetics and Biostatistics, Yale University Schools of Medicine and Public Health, New Haven, CT 06520 8034, USA
    BMC Genet 10:44. 2009
    ..We evaluate relative performance of each method through simulation...
  7. pmc Mapping quantitative traits in unselected families: algorithms and examples
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Genet Epidemiol 33:617-27. 2009
    ..We demonstrate our methods on simulated data and on fasting insulin, a quantitative trait measured in the Framingham Heart Study...
  8. ncbi request reprint Genome scan of systemic biomarkers of vascular inflammation in the Framingham Heart Study: evidence for susceptibility loci on 1q
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
    Atherosclerosis 182:307-14. 2005
    ..09) less than 5cM from the interleukin-10 (IL10) gene. Multiple genes on chromosome 1 may influence inflammatory biomarker levels and may have a potential role in development of CVD...
  9. ncbi request reprint Effect of linkage disequilibrium between markers in linkage and association analyses
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
    Genet Epidemiol 31:S139-48. 2007
    ....
  10. pmc A unified framework for linkage and association analysis of quantitative traits
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Proc Natl Acad Sci U S A 104:20210-5. 2007
    ..Issues to be studied in detail in the future development of this approach are discussed...
  11. pmc Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III)
    Jonna L Grimsby
    General Medicine Division, Massachusetts General Hospital, Boston, MA, USA
    BMC Med Genet 13:30. 2012
    ....
  12. pmc Variants at the endocannabinoid receptor CB1 gene (CNR1) and insulin sensitivity, type 2 diabetes, and coronary heart disease
    Jose M de Miguel-Yanes
    General Medicine Division, Massachusetts General Hospital, Boston, Massachusetts, USA
    Obesity (Silver Spring) 19:2031-7. 2011
    ..31), or with CHD in PROCARDIS (n = 13,614, nominal P = 0.37). Although supported by initial results, we found no reproducible statistical association of common variation at CNR1 with insulin resistance, T2D, or CHD...
  13. pmc Genome-wide association with diabetes-related traits in the Framingham Heart Study
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 8:S16. 2007
    ..Susceptibility to type 2 diabetes may be conferred by genetic variants having modest effects on risk. Genome-wide fixed marker arrays offer a novel approach to detect these variants...
  14. pmc Ordered stratification to reduce heterogeneity in linkage to diabetes-related quantitative traits
    James B Meigs
    Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Obesity (Silver Spring) 16:2314-22. 2008
    ..Such interactions might also influence trait-locus associations and may be useful to consider in diabetes genome-wide association studies...
  15. pmc Association of variants in RETN with plasma resistin levels and diabetes-related traits in the Framingham Offspring Study
    Marie France Hivert
    General Medicine Division, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 58:750-6. 2009
    ..Using comprehensive linkage disequilibrium mapping, we genotyped tag single nucleotide polymorphisms (SNPs) in RETN and tested associations with plasma resistin levels, risk of diabetes, and glycemic traits...
  16. pmc Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study
    Marie France Hivert
    General Medicine Division, Massachusetts General Hospital, Boston, MA, USA
    Diabetes 57:3353-9. 2008
    ..Using comprehensive linkage disequilibrium mapping, we genotyped single nucleotide polymorphisms (SNPs) in ADIPOQ to evaluate the association of common variants with adiponectin levels and risk of diabetes...
  17. pmc Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study
    Elliot S Stolerman
    Center for Human Genetic Research and Diabetes Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 57:1971-7. 2008
    ..We set out to confirm the association of ENPP1 K121Q with hyperglycemia, expand this association to insulin resistance traits, and determine whether the association stems from K121Q or another variant in linkage disequilibrium with it...
  18. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
    ..We tested the hypothesis that knowledge of these loci allows better prediction of risk than knowledge of common phenotypic risk factors alone...
  19. pmc Evaluation of a Two-Stage Approach in Trans-Ethnic Meta-Analysis in Genome-Wide Association Studies
    Jaeyoung Hong
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America
    Genet Epidemiol 40:284-92. 2016
    ..These results suggest that prior clustering in the two-stage approach can be an effective and efficient intermediate step in meta-analysis to account for the multiethnic heterogeneity. ..
  20. pmc New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
    Nat Genet 42:105-16. 2010
    ....
  21. pmc Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe
    David Karasik
    Hebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA 02131, USA
    Bone 46:1114-21. 2010
    ..Subsequent focus on the spectrum of genetic polymorphisms in these refined regions may contribute to finding variants predisposing to osteoporosis...
  22. pmc Sequence kernel association test for survival traits
    Han Chen
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, United States of America
    Genet Epidemiol 38:191-7. 2014
    ..We also present results in an application to time-to-obesity using genotypes from Framingham Heart Study SNP Health Association Resource. ..
  23. pmc Genome-wide association with bone mass and geometry in the Framingham Heart Study
    Douglas 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...
  24. ncbi request reprint PAI-1 Gene 4G/5G polymorphism and risk of type 2 diabetes in a population-based sample
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Obesity (Silver Spring) 14:753-8. 2006
    ..Elevated PAI-1 levels may be associated with an increased risk for diabetes as a marker for underlying endothelial dysfunction rather than by a direct effect of genetically mediated elevated levels...
  25. pmc General Framework for Meta-Analysis of Haplotype Association Tests
    Shuai Wang
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America
    Genet Epidemiol 40:244-52. 2016
    ....
  26. pmc Common variants in and near IRS1 and subclinical cardiovascular disease in the Framingham Heart Study
    Soo Lim
    General Medicine Division, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Atherosclerosis 229:149-54. 2013
    ..We tested the hypothesis that variants at this locus are associated with subclinical atherosclerosis traits...
  27. pmc Comparisons of case-selection approaches based on allele sharing and/or disease severity index: application to the GAW14 simulated data
    Chunyu Liu
    Department of Neurology, Boston University School of Public Health, Boston, Massachusetts, USA
    BMC Genet 6:S103. 2005
    ..Moreover, information on disease severity appears to be useful to improve the ability to detect associations between markers and disease loci...
  28. pmc Impact of common variation in bone-related genes on type 2 diabetes and related traits
    Liana K Billings
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 61:2176-86. 2012
    ..These findings further underscore the link between skeletal and glucose metabolism and highlight a locus to direct future investigations...
  29. pmc A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
    Alisa K Manning
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA
    Nat Genet 44:659-69. 2012
    ..The discovery of these loci will aid further characterization of the role of insulin resistance in T2D pathophysiology...
  30. pmc Poor performance of bootstrap confidence intervals for the location of a quantitative trait locus
    Ani Manichaikul
    Department of Biostatistics, Johns Hopkins University, Baltimore, Maryland 21205 2179, USA
    Genetics 174:481-9. 2006
    ..Likelihood support intervals and approximate Bayes credible intervals, on the other hand, are shown to behave appropriately...
  31. doi request reprint Evaluation of methods accounting for population structure with pedigree data and continuous outcomes
    Gina 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...
  32. ncbi request reprint A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets
    Jose C Florez
    Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 56:3063-74. 2007
    ..To use genome-wide fixed marker arrays and improved analytical tools to detect genetic associations with type 2 diabetes in a carefully phenotyped human sample...
  33. pmc A comparison of visual and quantitative methods to identify interstitial lung abnormalities
    CORRINE R KLIMENT
    From the Pulmonary and Critical Care Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
    BMC Pulm Med 15:134. 2015
    ..To investigate this relationship, we created lung density metrics and compared these to visual assessments of ILA...
  34. pmc Identification of polymorphisms explaining a linkage signal: application to the GAW14 simulated data
    Ming Huei Chen
    Department of Mathematics and Statistics, Boston University, Boston, MA, USA
    BMC Genet 6:S88. 2005
    ..However, Horikawa's method also had the most type I errors. These methods show potential as additional tools to complement family-based association tests for the identification of disease susceptibility variants...
  35. pmc Normal thymus in adults: appearance on CT and associations with age, sex, BMI and smoking
    Tetsuro Araki
    Department of Radiology, Center for Pulmonary Functional Imaging, Brigham and Women s Hospital, Harvard Medical School, 75 Francis St, Boston, MA, 02215, USA
    Eur Radiol 26:15-24. 2016
    ..To investigate CT appearance and size of the thymus in association with participant characteristics...
  36. pmc Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes
    Lu Qi
    Department of Nutrition, Harvard School of Public Health, and Brigham and Women s Hospital, Boston, MA, USA
    Hum Mol Genet 19:2706-15. 2010
    ..05). These data suggest that the 2q24 locus may influence the T2D risk by affecting glucose metabolism and insulin resistance...
  37. pmc Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms
    Jose M de Miguel-Yanes
    General Medicine Division, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes Care 34:121-5. 2011
    ..To test if knowledge of type 2 diabetes genetic variants improves disease prediction...
  38. pmc Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases
    Chuanhua 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. ..
  39. pmc Pulmonary cysts identified on chest CT: are they part of aging change or of clinical significance?
    Tetsuro Araki
    Department of Radiology, Center for Pulmonary Functional Imaging, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Thorax 70:1156-62. 2015
    ..To investigate the prevalence and natural course of pulmonary cysts in a population-based cohort and to describe the CT image characteristics in association with participant demographics and pulmonary functions...
  40. pmc Meta-analysis of gene-environment interaction: joint estimation of SNP and SNP × environment regression coefficients
    Alisa K Manning
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA
    Genet Epidemiol 35:11-8. 2011
    ..We describe a method of joint meta-analysis (JMA) of SNP and SNP by Environment (SNP × E) regression coefficients for use in gene-environment interaction studies...
  41. pmc Sequence kernel association test for quantitative traits in family samples
    Han Chen
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Genet Epidemiol 37:196-204. 2013
    ..We illustrate our approach to analyze the association of rare genetic variants using glycemic traits from the Framingham Heart Study...
  42. pmc A comparison of gene region simulation methods
    Audrey 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...
  43. pmc Common genetic determinants of vitamin D insufficiency: a genome-wide association study
    Thomas J Wang
    Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Lancet 376:180-8. 2010
    ..We aimed to identify common genetic variants affecting vitamin D concentrations and risk of insufficiency...
  44. pmc Clinical correlates, heritability, and genetic linkage of circulating CD40 ligand in the Framingham Offspring Study
    John F Keaney
    Evans Memorial Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Am Heart J 156:1003-1009.e1. 2008
    ..Circulating soluble CD40L (sCD40L) concentration predicts cardiovascular risk in selected patient samples. The purpose of this study was to determine the predictors of sCD40L in a large, community-based sample...
  45. pmc A method of moments estimator for random effect multivariate meta-analysis
    Han Chen
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Biometrics 68:1278-84. 2012
    ..In the simulation study, our method performs well when compared to existing random effect model multivariate meta-analysis approaches. We also apply our method in the analysis of a real data example...
  46. pmc Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States
    Jason L Vassy
    General Medicine Division, Massachusetts General Hospital, Boston, USA
    Metab Syndr Relat Disord 9:475-82. 2011
    ..S. race/ethnic groups in a nationally representative sample...
  47. pmc Evaluation of approaches to identify associated SNPs that explain the linkage evidence in nuclear families with affected siblings
    Ming Huei Chen
    Department of Neurology and Framingham Heart Study, Boston University, Boston, Mass, USA
    Hum Hered 69:104-19. 2010
    ..In conclusion, HST and HSTMLB provide simple and flexible tools to identify SNPs that explain the IBD sharing at the linkage peak...
  48. pmc Common variants at 30 loci contribute to polygenic dyslipidemia
    Sekar 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...
  49. pmc Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci
    Geoffrey A Walford
    Diabetes Research Center Diabetes Unit, Massachusetts General Hospital, Boston, MA Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA Department of Medicine, Harvard Medical School, Boston, MA
    Diabetes 65:3200-11. 2016
    ..In conclusion, we identified two novel loci and replicated known variants associated with insulin sensitivity. Further studies are needed to clarify the causal variant and function at the BCL2 and FAM19A2 loci. ..
  50. pmc Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin
    Ching Ti Liu
    Department of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA Electronic address
    Am J Hum Genet 99:56-75. 2016
    ....
  51. pmc Joint modeling of linkage and association using affected sib-pair data
    Ming Huei Chen
    Department of Mathematics and Statistics, Boston University, 111 Cummington Street, Boston, Massachusetts 02115, USA
    BMC Proc 1:S38. 2007
    ..When testing linkage or association, the conditional logistic regression method was more powerful than FBAT...
  52. pmc Incident Type 2 Diabetes Risk is Influenced by Obesity and Diabetes in Social Contacts: a Social Network Analysis
    Sridharan Raghavan
    Division of General Internal Medicine, Department of Medicine, Harvard Medical School and Massachusetts General Hospital, Boston, MA, USA
    J Gen Intern Med 31:1127-33. 2016
    ..Prior work shows that an individual's obesity risk is associated with obesity in social contacts, but whether T2D risk follows similar patterns is unknown...
  53. pmc Polygenic type 2 diabetes prediction at the limit of common variant detection
    Jason L Vassy
    Harvard Medical School, Boston, MASection of General Internal Medicine, VA Boston Healthcare System, Boston, MADivision of General Internal Medicine and Primary Care, Brigham and Women s Hospital, Boston, MA
    Diabetes 63:2172-82. 2014
    ..Further optimization of polygenic prediction may require novel analytic methods, including less common as well as functional variants...
  54. ncbi request reprint Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4
    Qiong Yang
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
    Genet Epidemiol 31:S34-42. 2007
    ..Finally, modeling the disease using association evidence conditional on linkage may improve understanding of the etiology of disease...
  55. pmc Type 2 Diabetes Genetic Predisposition, Obesity, and All-Cause Mortality Risk in the U.S.: A Multiethnic Analysis
    Aaron Leong
    Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA Harvard Medical School, Boston, MA
    Diabetes Care 39:539-46. 2016
    ..We sought to determine whether T2D-related genetic variants predicted all-cause mortality, even after accounting for BMI, in the Third National Health and Nutrition Examination Survey...
  56. pmc Meta-Analysis for Penalized Regression Methods with Multi-Cohort Genome-Wide Association Studies
    Chen Lu
    Department of Biostatistics, Boston University School of Public Health, Boston, Mass, USA
    Hum Hered 81:142-149. 2016
    ..While meta-analysis is often conducted to increase power and protect patients' confidentiality, methods for meta-analyzing results of penalized regression in multi-cohort setting are still under development...
  57. pmc Metabolic factors and genetic risk mediate familial type 2 diabetes risk in the Framingham Heart Study
    Sridharan Raghavan
    Division of General Internal Medicine, Department of Medicine, Harvard Medical School and Massachusetts General Hospital, 50 Staniford Street, 9th Floor, Boston, MA, 02114, USA
    Diabetologia 58:988-96. 2015
    ..Type 2 diabetes mellitus in parents is a strong determinant of diabetes risk in their offspring. We hypothesise that offspring diabetes risk associated with parental diabetes is mediated by metabolic risk factors...
  58. pmc Correction for multiple testing in a gene region
    Audrey E Hendricks
    Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
    Eur J Hum Genet 22:414-8. 2014
    ..We find Gao et al and extreme tail theory to be efficient alternatives to more computationally intensive approaches to control for multiple testing in gene regions. ..
  59. pmc Comparison of statistical approaches to rare variant analysis for quantitative traits
    Han Chen
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    BMC Proc 5:S113. 2011
    ....
  60. pmc The Lin28/let-7 axis regulates glucose metabolism
    Hao Zhu
    Stem Cell Transplantation Program, Division of Pediatric Hematology Oncology, Children s Hospital Boston and Dana Farber Cancer Institute, Boston, MA, USA
    Cell 147:81-94. 2011
    ..These data establish the Lin28/let-7 pathway as a central regulator of mammalian glucose metabolism...
  61. pmc Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men
    Douglas P Kiel
    Institute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA 02131, USA
    Bone 40:587-96. 2007
    ..These observations suggest that Wnt-LRP5 may play a role in the adaptation of bone to mechanical load in humans, and may explain some gender-related differences in bone mass...
  62. ncbi request reprint Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios
    Chao 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...
  63. ncbi request reprint The insulin gene variable number tandem repeat and risk of type 2 diabetes in a population-based sample of families and unrelated men and women
    James B Meigs
    General Medicine Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 90:1137-43. 2005
    ..These data support the hypothesis that the INS VNTR is a genetic risk factor for type 2 diabetes, with the TT genotype accounting for about 6.6% of cases in the FHS population...
  64. pmc Joint association analysis of a binary and a quantitative trait in family samples
    Shuai Wang
    Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
    Eur J Hum Genet 25:130-136. 2016
    ..Finally, we present a real application to uncover genetic variants associated with body mass index and type-2 diabetes in the Framingham Heart Study...
  65. pmc Handling linkage disequilibrium in linkage analysis using dense single-nucleotide polymorphisms
    Kelly Cho
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Talbot E 4th Floor, Boston, Massachusetts 02118, USA
    BMC Proc 1:S161. 2007
    ..Our findings reiterate the necessity of properly handling dense markers in linkage analysis, especially when parental genotypes are unavailable...
  66. pmc Incorporating gene-environment interaction in testing for association with rare genetic variants
    Han Chen
    Department of Biostatistics, Boston University School of Public Health, Boston, Mass, USA
    Hum Hered 78:81-90. 2014
    ..We aimed at developing powerful and computationally efficient tests for gene-environment interaction with rare variants...
  67. pmc Network-guided sparse regression modeling for detection of gene-by-gene interactions
    Chen Lu
    Department of Biostatistics, Boston University School of Public Health, Pulmonary Center, Department of Medicine and Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    Bioinformatics 29:1241-9. 2013
    ..We propose a novel approach to detect such interactions that uses penalized regression and sparse estimation principles, and incorporates outside biological knowledge through a network-based penalty...
  68. pmc Using linkage analysis of large pedigrees to guide association analyses
    Seung Hoan Choi
    Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA
    BMC Proc 5:S79. 2011
    ..5% of the exome. This result suggests that incorporating linkage results from large multiplex families might greatly increase the efficiency of sequencing to detect trait-associated alleles in complex disease...
  69. pmc MUC5B promoter polymorphism and interstitial lung abnormalities
    Gary M Hunninghake
    Pulmonary and Critical Care Division, Brigham and Women s Hospital, 75 Francis St, Boston, MA 02115, USA
    N Engl J Med 368:2192-200. 2013
    ..It is not known whether this polymorphism is associated with interstitial lung disease in the general population...
  70. pmc Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies
    Alisa K Manning
    School of Public Health, Boston University, 715 Albany Street, Boston, Massachusetts 02118, USA
    BMC Proc 3:S81. 2009
    ..012)...
  71. pmc Performance of statistical methods on CHARGE targeted sequencing data
    Chuanhua Xing
    Department of Biostatistics, Boston University, Boston, MA, USA
    BMC Genet 15:104. 2014
    ..Although statistical methods are available to investigate the role of rare variants, few have evaluated their performance in a case-cohort design...
  72. doi request reprint Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy
    Audrey Y Chu
    Center for Cardiovascular Disease Prevention, the Division of Preventive Medicine, Brigham and Women s Hospital, Boston, MA, USA
    Circ Cardiovasc Genet 5:676-85. 2012
    ..Data are sparse regarding genetic determinants of Lp-PLA(2) mass and activity, and no prior data are available addressing genetic determinants of statin-induced changes for this proinflammatory biomarker...