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ARIC Publications

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Journal Article
Chen L, Patsch W, Boerwinkle E. "HindIII DNA polymorphism in the lipoprotein lipase gene and plasma lipid phenotypes and carotid artery atherosclerosis." Hum Genet. 1996;98(5):551-6.
Allen HLango, Estrada K, Lettre G, et al. "Hundreds of variants clustered in genomic loci and biological pathways affect human height." Nature. 2010;467(7317):832-8.
Pankow JS, Tang W, Pankratz N, et al. "Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities)." Arterioscler Thromb Vasc Biol. 2017;37(3):589-597.
Coban-Akdemir Z, White JJ, Song X, et al. "Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles." Am J Hum Genet. 2018;103(2):171-187.
Wheeler E, Leong A, Liu C-T, et al. "Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis." PLoS Med. 2017;14(9):e1002383.
Duan Q, Liu EYi, Auer PL, et al. "Imputation of coding variants in African Americans: better performance using data from the exome sequencing project." Bioinformatics. 2013;29(21):2744-9.
Beck JD, Moss KL, Morelli T. "In search of appropriate measures of periodontal status: The Periodontal Profile Phenotype (P ) system." J Periodontol. 2018;89(2):166-175.
Bick AG, Weinstock JS, Nandakumar SK, et al. "Inherited causes of clonal haematopoiesis in 97,691 whole genomes." Nature. 2020;586(7831):763-768.
Gharib SA, Loth DW, Artigas MSoler, et al. "Integrative pathway genomics of lung function and airflow obstruction." Hum Mol Genet. 2015;24(23):6836-48.
Rosenthal EA, Ranchalis J, Crosslin DR, et al. "Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia." Am J Hum Genet. 2013;93(6):1035-45.
Zhang L, Bůžková P, Wassel CL, et al. "Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study." Atherosclerosis. 2013;228(2):390-9.
Asselbergs FW, Guo Y, van Iperen EPA, et al. "Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci." Am J Hum Genet. 2012;91(5):823-38.
Day FR, Ruth KS, Thompson DJ, et al. "Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair." Nat Genet. 2015;47(11):1294-1303.
Simino J, Kume R, Kraja AT, et al. "Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program." Atherosclerosis. 2014;235(1):84-93.
Rodriguez S, Gaunt TR, Guo Y, et al. "Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array." Eur J Hum Genet. 2016;24(1):106-12.
Hu Y-J, Berndt SI, Gustafsson S, et al. "Meta-analysis of gene-level associations for rare variants based on single-variant statistics." Am J Hum Genet. 2013;93(2):236-48.
Bis JC, Kavousi M, Franceschini N, et al. "Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque." Nat Genet. 2011;43(10):940-7.
Evans DM, Brion MJo A, Paternoster L, et al. "Mining the human phenome using allelic scores that index biological intermediates." PLoS Genet. 2013;9(10):e1003919.
Hill WD, Davies G, Harris SE, et al. "Molecular genetic aetiology of general cognitive function is enriched in evolutionarily conserved regions." Transl Psychiatry. 2016;6(12):e980.
de Vries PS, Brown MR, Bentley AR, et al. "Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions." Am J Epidemiol. 2019;188(6):1033-1054.
Natarajan P, Bis JC, Bielak LF, et al. "Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis." Circ Cardiovasc Genet. 2016;9(6):511-520.
Nalls MA, Couper DJ, Tanaka T, et al. "Multiple loci are associated with white blood cell phenotypes." PLoS Genet. 2011;7(6):e1002113.
Ganesh SK, Zakai NA, van Rooij FJA, et al. "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium." Nat Genet. 2009;41(11):1191-8.
Kraja AT, Cook JP, Warren HR, et al. "New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals." Circ Cardiovasc Genet. 2017;10(5).
Smith NL, Chen M-H, Dehghan A, et al. "Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium." Circulation. 2010;121(12):1382-92.
Adams HHH, Hibar DP, Chouraki V, et al. "Novel genetic loci underlying human intracranial volume identified through genome-wide association." Nat Neurosci. 2016;19(12):1569-1582.
Kucharska-Newton AMaria, Palta P, Burgard S, et al. "Operationalizing Frailty in the Atherosclerosis Risk in Communities Study Cohort." J Gerontol A Biol Sci Med Sci. 2017;72(3):382-388.
Pendergrass SA, Brown-Gentry K, Dudek S, et al. "Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network." PLoS Genet. 2013;9(1):e1003087.
Kraja AT, Chasman DI, North KE, et al. "Pleiotropic genes for metabolic syndrome and inflammation." Mol Genet Metab. 2014;112(4):317-38.
Gaubatz JW, Ghanem KI, Guevara J, Nava ML, Patsch W, Morrisett JD. "Polymorphic forms of human apolipoprotein[a]: inheritance and relationship of their molecular weights to plasma levels of lipoprotein[a]." J Lipid Res. 1990;31(4):603-13.
Seidelmann SB, Vardeny O, Claggett B, et al. "An Promoter Polymorphism Associated With Elevated N-Terminal pro-B-Type Natriuretic Peptide and Lower Blood Pressure, Hypertension, and Mortality." J Am Heart Assoc. 2017;6(4).
Magnani JW, Zhu L, Norby FL, et al. "P-wave indices and atrial fibrillation: cross-cohort assessments from the Framingham Heart Study (FHS) and Atherosclerosis Risk in Communities (ARIC) study." Am Heart J. 2015;169(1):53-61.e1.
Marouli E, Graff M, Medina-Gomez C, et al. "Rare and low-frequency coding variants alter human adult height." Nature. 2017;542(7640):186-190.
Lunetta KL, Day FR, Sulem P, et al. "Rare coding variants and X-linked loci associated with age at menarche." Nat Commun. 2015;6:7756.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.
Reich D, Nalls MA, Kao LWH, et al. "Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene." PLoS Genet. 2009;5(1):e1000360.
Lutsey PL, Rasmussen-Torvik LJ, Pankow JS, et al. "Relation of lipid gene scores to longitudinal trends in lipid levels and incidence of abnormal lipid levels among individuals of European ancestry: the Atherosclerosis Risk in Communities (ARIC) study." Circ Cardiovasc Genet. 2012;5(1):73-80.
Brown SA, Morrisett JD, Boerwinkle E, Hutchinson R, Patsch W. "The relation of lipoprotein[a] concentrations and apolipoprotein[a] phenotypes with asymptomatic atherosclerosis in subjects of the Atherosclerosis Risk in Communities (ARIC) Study." Arterioscler Thromb. 1993;13(11):1558-66.
Wei P, Cao Y, Zhang Y, Xu Z, Kwak I-Y, Boerwinkle E. "On Robust Association Testing for Quantitative Traits and Rare Variants." G3 (Bethesda). 2016;6(12):3941-3950.
Wu B. "Sequence Kernel Association Test of Multiple Continuous Phenotypes." Genet Epidemiol. 2016;40(2):91-100.
Taliun D, Harris DN, Kessler MD, et al. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program." Nature. 2021;590(7845):290-299.
Lagou V, Mägi R, Hottenga J-Jan, et al. "Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability." Nat Commun. 2021;12(1):24.
Dichgans M, Malik R, König IR, et al. "Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants." Stroke. 2014;45(1):24-36.
Hoogeveen RC, Gaubatz JW, Sun W, et al. "Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study." Arterioscler Thromb Vasc Biol. 2014;34(5):1069-77.
de Haan HG, A Vlieg vanHylckama, Lotta LA, et al. "Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes." J Thromb Haemost. 2018;16(12):2432-2441.
Keller MF, Reiner AP, Okada Y, et al. "Trans-ethnic meta-analysis of white blood cell phenotypes." Hum Mol Genet. 2014;23(25):6944-60.
Chiang CWK, Liu C-T, Lettre G, et al. "Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms." Genetics. 2012;192(1):253-66.
McMahon GM, Hwang S-J, Clish CB, et al. "Urinary metabolites along with common and rare genetic variations are associated with incident chronic kidney disease." Kidney Int. 2017;91(6):1426-1435.
Ray D, Pankow JS. "USAT: A Unified Score-Based Association Test for Multiple Phenotype-Genotype Analysis." Genet Epidemiol. 2016;40(1):20-34.
Pendergrass SA, Brown-Gentry K, Dudek SM, et al. "The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery." Genet Epidemiol. 2011;35(5):410-22.
Tin A, Colantuoni E, Boerwinkle E, et al. "Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate." J Hum Genet. 2013;58(7):461-6.
Lusk CM, Dyson G, Clark AG, et al. "Validated context-dependent associations of coronary heart disease risk with genotype variation in the chromosome 9p21 region: the Atherosclerosis Risk in Communities study." Hum Genet. 2014;133(9):1105-16.
Logsdon BA, Dai JY, Auer PL, et al. "A variational Bayes discrete mixture test for rare variant association." Genet Epidemiol. 2014;38(1):21-30.
Sarnowski C, Satizabal CL, DeCarli C, et al. "Whole genome sequence analyses of brain imaging measures in the Framingham Study." Neurology. 2018;90(3):e188-e196.
Lange LA, Hu Y, Zhang H, et al. "Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol." Am J Hum Genet. 2014;94(2):233-45.

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