Research Topics
Genomes and Genes
| Sekar KathiresanSummaryAffiliation: Massachusetts General Hospital Country: USA Publications
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Detail Information
Publications
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variantsSekar Kathiresan
Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Nat Genet 41:334-41. 2009..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk...
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart StudyRamachandran S Vasan
The National Heart, Lung, and Blood Institute s Framingham Heart Study, Framingham, MA, USA
BMC Med Genet 8:S2. 2007..We conducted a genome-wide association study (GWAS) in the community-based Framingham Heart Study...
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...
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart StudyQiong Yang
The National Heart, Lung and Blood Institute s Framingham Heart Study, Framingham, MA, USA
BMC Med Genet 8:S12. 2007..We sought to confirm known putative loci and identify novel loci that may influence either trait in genome-wide association and linkage analyses using the Affymetrix GeneChip 100K single nucleotide polymorphism (SNP) set...
Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart StudyMary E Keebler
Massachusetts General Hospital, Boston, MA 02115, USA
Circ Cardiovasc Genet 3:358-64. 2010..Genome-wide association studies in cohorts of European descent have identified novel genomic regions as associated with lipids, but their relevance in African Americans remains unclear...
Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart StudyRahul C Deo
Department of Genetics, Harvard Medical School, Boston, MA, USA
PLoS Genet 5:e1000342. 2009....
Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey IIIMary E Keebler
Massachusetts General Hospital, Boston, MA 02115, USA
Circ Cardiovasc Genet 2:238-43. 2009..Whether these same SNPs associate with lipids in a broader range of ethnicities is unknown...
Pericardial fat volume correlates with inflammatory markers: the Framingham Heart StudyThomas M Tadros
National Heart, Lung, and Blood Institute s Framingham Heart Study, Boston, Massachusetts, USA
Obesity (Silver Spring) 18:1039-45. 2010..Multiple markers of inflammation and oxidative stress correlated with pericardial and intrathoracic fat volumes, extending the known association between regional adiposity and inflammation and oxidative stress...
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locusKiran Musunuru
Cardiovascular Research Center and Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
Nature 466:714-9. 2010..We also demonstrate that common noncoding DNA variants identified by GWASs can directly contribute to clinical phenotypes...
Polymorphisms associated with cholesterol and risk of cardiovascular eventsSekar Kathiresan
Cardiovascular Disease Prevention Center, Cardiology Division, Massachusetts General Hospital, MA 02114, USA
N Engl J Med 358:1240-9. 2008..We tested the hypothesis that a combination of such SNPs contributes to the risk of cardiovascular disease...
Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressureChristopher Newton-Cheh
Center for Human Genetic Research, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA
Nat Genet 41:348-53. 2009..85-0.95, P = 2 x 10(-4), respectively). Common genetic variants at the NPPA-NPPB locus found to be associated with circulating natriuretic peptide concentrations contribute to interindividual variation in blood pressure and hypertension...
Inflammation, kidney function and albuminuria in the Framingham Offspring cohortAshish Upadhyay
Division of Nephrology, Tufts Medical Center and Tufts University School of Medicine, Boston, MA, USA
Nephrol Dial Transplant 26:920-6. 2011..Whether inflammatory biomarkers are associated with kidney function and albuminuria after accounting for traditional CVD risk factors is not completely understood...
Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular riskKiran Musunuru
Center for Human Genetic Research, Cardiology Division, Massachusetts General Hospital, Boston, MA, USA
Arterioscler Thromb Vasc Biol 29:1975-80. 2009....
Vitamin K and vitamin D status: associations with inflammatory markers in the Framingham Offspring StudyM Kyla Shea
Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA
Am J Epidemiol 167:313-20. 2008..The observation that high vitamin K status was associated with lower concentrations of inflammatory markers suggests that a possible protective role for vitamin K in inflammation merits further investigation...
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...
Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated statesPablo Perez-Martinez
Nutrition and Genomics Laboratory, Jean Mayer US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA
Am J Clin Nutr 89:391-9. 2009..Hypertriglyceridemia is a risk factor for cardiovascular disease. Variation in the apolipoprotein A5 (APOA5) and glucokinase regulatory protein (GCKR) genes has been associated with fasting plasma triacylglycerol...
Genome-wide association study identifies eight loci associated with blood pressureChristopher Newton-Cheh
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
Nat Genet 41:666-76. 2009..These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease...
Genetics of coronary artery diseaseKiran Musunuru
Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02108, USA
Annu Rev Genomics Hum Genet 11:91-108. 2010..A key challenge now is to move from mapping loci to pinpointing causal genes and variants, and to develop a molecular understanding of how these genes lead to coronary disease...
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritisEli A Stahl
Division of Rheumatology Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 44:483-9. 2012..These analyses suggest that GWAS will continue to be highly productive for the discovery of additional susceptibility loci for common diseases...
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humansSekar Kathiresan
Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Nat Genet 40:189-97. 2008..Understanding the molecular, cellular and clinical consequences of the newly identified loci may inform therapy and clinical care...
HapMap and mapping genes for cardiovascular diseaseKiran Musunuru
Cardiovascular Research Center and Cardiology Division, and Center for Human Genetic Research, Massachusetts General Hospital, Boston and Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Mass
Circ Cardiovasc Genet 1:66-71. 2008..We review the following: (1) the concept of linkage disequilibrium orallelic association, (2) the HapMap project, and (3) several examples of the utility of HapMap data in genetic mapping for cardiovascular disease phenotypes...
Exome sequencing and complex disease: practical aspects of rare variant association studiesRon Do
Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA
Hum Mol Genet 21:R1-9. 2012..Here, we provide practical guidance in the design and analysis of complex trait association studies focused on rare, coding variants...
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohortsAlexander G Bick
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 91:513-9. 2012..3) in the FHS cohort, suggesting that cardiovascular risk assessment in the general population can benefit from rare variant analysis...
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemiaKiran Musunuru
Cardiovascular Research Center, Massachusetts General Hospital, and Department of Medicine, Boston University School of Public Health, Boston, MA 02114, USA
N Engl J Med 363:2220-7. 2010..Funded by the National Human Genome Research Institute and others.)...
Testing for an unusual distribution of rare variantsBenjamin M Neale
The Center for Human Genetic Research, Massachusetts General Hospital, Boston, United States of America
PLoS Genet 7:e1001322. 2011..Through simulations and analysis of case/control data, we demonstrate good power relative to existing methods that assess the burden of rare variants in individuals...
Glycated albumin and direct low density lipoprotein cholesterol levels in type 2 diabetes mellitusMasumi Ai
Lipid Metabolism Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA 02111, USA
Clin Chim Acta 406:71-4. 2009....
PAI-1 Gene 4G/5G polymorphism and risk of type 2 diabetes in a population-based sampleJames 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...
Genetics of lipid disordersJames Pirruccello
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Curr Opin Cardiol 25:238-42. 2010..In this review, we will highlight recent advances in identifying genes and gene regions responsible for the variation in serum lipid levels. We will also consider the next directions for research based on these advances...
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...
Genetics of human cardiovascular diseaseSekar Kathiresan
Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA
Cell 148:1242-57. 2012....
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Am J Hum Genet 89:551-63. 2011....
Defining the spectrum of alleles that contribute to blood lipid concentrations in humansSekar Kathiresan
Cardiovascular Disease Prevention Center, Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Curr Opin Lipidol 19:122-7. 2008..This review summarizes recent genome-wide association studies for lipid phenotypes, and evaluates the next steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings to inform clinical practice...
Visceral and subcutaneous adipose tissue volumes are cross-sectionally related to markers of inflammation and oxidative stress: the Framingham Heart StudyKarla M Pou
Division of Endocrinology, Metabolism, and Diabetes, Brigham and Women s Hospital and Harvard Medical School, Boston, Mass, USA
Circulation 116:1234-41. 2007..Excess adiposity is associated with greater systemic inflammation. Whether visceral adiposity is more proinflammatory than subcutaneous abdominal adiposity is unclear...
New opportunities for identification and reduction of coronary risk: treatment of vulnerable patients, arteries, and plaquesJames E Muller
Harvard Medical School, Boston, Massachusetts, USA
J Am Coll Cardiol 47:C2-6. 2006..If vulnerable plaques and patients can be successfully identified and treated, there will be immense clinical benefits, accompanied by cost savings...
Aging syndrome genes and premature coronary artery diseaseAdrian F Low
Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, and Harvard Medical School, Boston, MA, USA
BMC Med Genet 6:38. 2005..We evaluated whether common variants at the LMNA or KLOTHO genes are associated with rigorously defined premature CAD...
