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ARIC Publications

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Journal Article
Gorski M, van der Most PJ, Teumer A, et al. "1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function." Sci Rep. 2017;7:45040.
Michos ED, Misialek JR, Selvin E, Folsom AR, Pankow JS, Post WS. "25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms and incident coronary heart disease among whites and blacks: The ARIC study." Atherosclerosis. 2015;241(1):12-7.
Amendola LM, Dorschner MO, Robertson PD, et al. "Actionable exomic incidental findings in 6503 participants: challenges of variant classification." Genome Res. 2015;25(3):305-15.
Morrison AC, Bray MS, Folsom AR, Boerwinkle E. "ADD1 460W allele associated with cardiovascular disease in hypertensive individuals." Hypertension. 2002;39(6):1053-7.
Cheng C-Y, Reich D, Coresh J, et al. "Admixture mapping of obesity-related traits in African Americans: the Atherosclerosis Risk in Communities (ARIC) Study." Obesity (Silver Spring). 2010;18(3):563-72.
Raffield LM, Iyengar AK, Wang B, et al. "Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts." Am J Hum Genet. 2020;106(1):112-120.
Li AH, Morrison AC, Kovar C, et al. "Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease." Nat Genet. 2015;47(6):640-2.
Rosenthal EA, Makaryan V, Burt AA, et al. "Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project." Genet Epidemiol. 2016;40(6):470-4.
Patel RS, Schmidt AF, Tragante V, et al. "Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events." Circ Genom Precis Med. 2019;12(4):e002471.
Peloso GM, Lange LA, Varga TV, et al. "Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study." Circ Cardiovasc Genet. 2016;9(4):368-74.
Schick UM, Auer PL, Bis JC, et al. "Association of exome sequences with plasma C-reactive protein levels in >9000 participants." Hum Mol Genet. 2015;24(2):559-71.
Cornes BK, Brody JA, Nikpoor N, et al. "Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):374-382.
Peloso GM, Auer PL, Bis JC, et al. "Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks." Am J Hum Genet. 2014;94(2):223-32.
Volcik KA, Ballantyne CM, Braun MC, Coresh J, Mosley TH, Boerwinkle E. "Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study." Am J Hypertens. 2008;21(5):533-8.
Kucharska-Newton AM, Monda KL, Campbell S, et al. "Association of the platelet GPIIb/IIIa polymorphism with atherosclerotic plaque morphology: the Atherosclerosis Risk in Communities (ARIC) Study." Atherosclerosis. 2011;216(1):151-6.
Cushman M, Cornell A, Folsom AR, et al. "Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis." Thromb Res. 2007;121(3):339-45.
Grove ML, Yu B, Cochran BJ, et al. "Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium." PLoS One. 2013;8(7):e68095.
Sotoodehnia N, Siscovick DS, Vatta M, et al. "Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death." Circulation. 2006;113(15):1842-8.
Morrison AC, Brancati FL, Folsom AR, Smith L, Boerwinkle E. "Beta3-adrenergic receptor Trp64Arg polymorphism does not predict incident CHD or carotid intima-media thickness in a community-based sample of whites: the ARIC study. Atherosclerosis Risk in Communities." Hum Genet. 1999;105(4):314-9.
Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF. "Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes." J Thromb Haemost. 2013;11(2):261-9.
Wang H, Nandakumar P, Tekola-Ayele F, et al. "Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31." Eur J Hum Genet. 2019;27(2):269-277.
McPherson R, Pertsemlidis A, Kavaslar N, et al. "A common allele on chromosome 9 associated with coronary heart disease." Science. 2007;316(5830):1488-91.
Johnsen JM, Auer PL, Morrison AC, et al. "Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project." Blood. 2013;122(4):590-7.
Assimes TL, Knowles JW, Priest JR, et al. "Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease." Hum Genet. 2008;123(4):399-408.
Parsa A, Fuchsberger C, Köttgen A, et al. "Common variants in Mendelian kidney disease genes and their association with renal function." J Am Soc Nephrol. 2013;24(12):2105-17.
Sanna S, Jackson AU, Nagaraja R, et al. "Common variants in the GDF5-UQCC region are associated with variation in human height." Nat Genet. 2008;40(2):198-203.
Chanda P, Yuhki N, Li M, et al. "Comprehensive evaluation of imputation performance in African Americans." J Hum Genet. 2012;57(7):411-21.
Scharpf RB, Mireles L, Yang Q, et al. "Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations." BMC Genet. 2014;15:81.
Lee CR, North KE, Bray MS, Couper DJ, Heiss G, Zeldin DC. "Cyclooxygenase polymorphisms and risk of cardiovascular events: the Atherosclerosis Risk in Communities (ARIC) study." Clin Pharmacol Ther. 2008;83(1):52-60.
Thyagarajan B, Brott M, Mink P, et al. "CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study." Cancer Lett. 2004;207(2):183-9.
Liu X, Wu C, Li C. "dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs." Hum Mutat. 2016;37(3):235-41.
Natarajan P, Peloso GM, Zekavat SMaryam, et al. "Deep-coverage whole genome sequences and blood lipids among 16,324 individuals." Nat Commun. 2018;9(1):3391.
Salfati E, Morrison AC, Boerwinkle E. "Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)." PLoS One. 2015;10(7):e0133031.
C Y Ng M, Graff M, Lu Y, et al. "Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium." PLoS Genet. 2017;13(4):e1006719.
van den Berg ME, Warren HR, Cabrera CP, et al. "Discovery of novel heart rate-associated loci using the Exome Chip." Hum Mol Genet. 2017;26(12):2346-2363.
Cakir B, Pankow JS, Salomaa V, et al. "Distribution of Lewis (FUT3)genotype and allele: frequencies in a biethnic United States population." Ann Hematol. 2002;81(10):558-65.
Folsom AR, Nambi V, Pankow JS, Tang W, Farbakhsh K, Yamagishi K. "Effect of 9p21 genetic variation on coronary heart disease is not modified by other risk markers. The Atherosclerosis Risk in Communities (ARIC) Study." Atherosclerosis. 2012;224(2):435-9.
Sung YJu, Winkler TW, Manning AK, et al. "An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group." Genet Epidemiol. 2016;40(5):404-15.
Buyske S, Wu Y, Carty CL, et al. "Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study." PLoS One. 2012;7(4):e35651.
Hinney A, Kesselmeier M, Jall S, et al. "Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index." Mol Psychiatry. 2017;22(2):192-201.
Tennessen JA, Bigham AW, O'Connor TD, et al. "Evolution and functional impact of rare coding variation from deep sequencing of human exomes." Science. 2012;337(6090):64-9.
Rhee EP, Yang Q, Yu B, et al. "An exome array study of the plasma metabolome." Nat Commun. 2016;7:12360.
Chami N, Chen M-H, Slater AJ, et al. "Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits." Am J Hum Genet. 2016;99(1):8-21.
Flannick J, Mercader JM, Fuchsberger C, et al. "Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls." Nature. 2019;570(7759):71-76.
Divaris K, Monda KL, North KE, et al. "Exploring the genetic basis of chronic periodontitis: a genome-wide association study." Hum Mol Genet. 2013;22(11):2312-24.
Aleksic N, Ahn C, Wang Y-W, et al. "Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) Study." Arterioscler Thromb Vasc Biol. 2002;22(2):348-52.
Qi Q, Kilpeläinen TO, Downer MK, et al. "FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals." Hum Mol Genet. 2014;23(25):6961-72.
Grove ML, Morrison A, Folsom AR, Boerwinkle E, Hoelscher DM, Bray MS. "Gene-environment interaction and the GNB3 gene in the Atherosclerosis Risk in Communities study." Int J Obes (Lond). 2007;31(6):919-26.
Carlson CS, Matise TC, North KE, et al. "Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study." PLoS Biol. 2013;11(9):e1001661.
Fesinmeyer MD, North KE, Ritchie MD, et al. "Genetic risk factors for BMI and obesity in an ethnically diverse population: results from the population architecture using genomics and epidemiology (PAGE) study." Obesity (Silver Spring). 2013;21(4):835-46.
Fesinmeyer MD, Meigs JB, North KE, et al. "Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study." BMC Med Genet. 2013;14:98.
Jansen H, Loley C, Lieb W, et al. "Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk." Atherosclerosis. 2015;241(2):419-26.
Maruthur NM, Li M, Halushka MK, et al. "Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study." PLoS One. 2015;10(6):e0128452.
Köttgen A, Albrecht E, Teumer A, et al. "Genome-wide association analyses identify 18 new loci associated with serum urate concentrations." Nat Genet. 2013;45(2):145-54.
Fornage M, Debette S, Bis JC, et al. "Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium." Ann Neurol. 2011;69(6):928-39.
Huang J, Sabater-Lleal M, Asselbergs FW, et al. "Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation." Blood. 2012;120(24):4873-81.
Köttgen A, Kao W HL, Hwang S-J, et al. "Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies." BMC Med Genet. 2008;9:49.
Smith CE, Follis JL, Dashti HS, et al. "Genome-Wide Interactions with Dairy Intake for Body Mass Index in Adults of European Descent." Mol Nutr Food Res. 2018;62(3).
Boraska V, Jerončić A, Colonna V, et al. "Genome-wide meta-analysis of common variant differences between men and women." Hum Mol Genet. 2012;21(21):4805-15.
Morrison AC, Doris PA, Folsom AR, Nieto FJ, Boerwinkle E. "G-protein beta3 subunit and alpha-adducin polymorphisms and risk of subclinical and clinical stroke." Stroke. 2001;32(4):822-9.
Pankow JS, Boerwinkle E, Adams PC, et al. "HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study." Transl Res. 2008;152(1):3-10.
Hoed Mden, Eijgelsheim M, Esko T, et al. "Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders." Nat Genet. 2013;45(6):621-31.
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.
Auer PL, Johnsen JM, Johnson AD, et al. "Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project." Am J Hum Genet. 2012;91(5):794-808.
Campos M, Buchanan A, Yu F, et al. "Influence of single nucleotide polymorphisms in factor VIII and von Willebrand factor genes on plasma factor VIII activity: the ARIC Study." Blood. 2012;119(8):1929-34.
Li R, Folsom AR, Sharrett AR, Couper D, Bray M, Tyroler HA. "Interaction of the glutathione S-transferase genes and cigarette smoking on risk of lower extremity arterial disease: the Atherosclerosis Risk in Communities (ARIC) study." Atherosclerosis. 2001;154(3):729-38.
Larson N, Hutchinson R, Boerwinkle E. "Lack of association of 3 functional gene variants with hypertension in African Americans." Hypertension. 2000;35(6):1297-300.
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.
Scott RA, Lagou V, Welch RP, et al. "Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways." Nat Genet. 2012;44(9):991-1005.
Lindström S, Brody JA, Turman C, et al. "A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
Holmes MV, Asselbergs FW, Palmer TM, et al. "Mendelian randomization of blood lipids for coronary heart disease." Eur Heart J. 2015;36(9):539-50.
Monda KL, Chen GK, Taylor KC, et al. "A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry." Nat Genet. 2013;45(6):690-6.
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.
Natarajan P, Bis JC, Bielak LF, et al. "Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis." Circ Cardiovasc Genet. 2016;9(6):511-520.
O'Seaghdha CM, Parekh RS, Hwang S-J, et al. "The MYH9/APOL1 region and chronic kidney disease in European-Americans." Hum Mol Genet. 2011;20(12):2450-6.
Carrejo MH, Sharrett R, Patsch W, Boerwinkle E. "No association of apolipoprotein A-IV codon 347 and 360 variation with atherosclerosis and lipid transport in a sample of mixed hyperlipidemics." Genet Epidemiol. 1995;12(4):371-80.
Dumitrescu L, Carty CL, Franceschini N, et al. "No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population." Hum Genet. 2013;132(12):1427-31.
Jensen RA, Sim X, Smith A V, et al. "Novel Genetic Loci Associated With Retinal Microvascular Diameter." Circ Cardiovasc Genet. 2016;9(1):45-54.
Fedorowski A, Franceschini N, Brody J, et al. "Orthostatic hypotension and novel blood pressure-associated gene variants: Genetics of Postural Hemodynamics (GPH) Consortium." Eur Heart J. 2012;33(18):2331-41.
Zhao J, Zhu Y, Boerwinkle E. "Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.