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ARIC Publications

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Journal Article
de Vries PS, Yu B, Feofanova EV, et al. "Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study." Hum Mol Genet. 2017;26(17):3442-3450.
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.
Yu B, de Vries PS, Metcalf GA, et al. "Whole genome sequence analysis of serum amino acid levels." Genome Biol. 2016;17(1):237.
Lubitz SA, Brody JA, Bihlmeyer NA, et al. "Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
Simino J, Wang Z, Bressler J, et al. "Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study." PLoS One. 2017;12(7):e0180046.
Schneider ALC, Lutsey PL, Selvin E, et al. "Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study." Eur J Neurol. 2015;22(8):1220-7.
Folsom AR, Pankow JS, Peacock JM, Bielinski SJ, Heiss G, Boerwinkle E. "Variation in TCF7L2 and increased risk of colon cancer: the Atherosclerosis Risk in Communities (ARIC) Study." Diabetes Care. 2008;31(5):905-9.
Benjamin EJ, Rice KM, Arking DE, et al. "Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry." Nat Genet. 2009;41(8):879-81.
Shetty PB, Tang H, Feng T, et al. "Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families." Circ Cardiovasc Genet. 2015;8(1):106-13.
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.
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.
Shungin D, Cornelis MC, Divaris K, et al. "Using genetics to test the causal relationship of total adiposity and periodontitis: Mendelian randomization analyses in the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium." Int J Epidemiol. 2015;44(2):638-50.
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.
Ray D, Pankow JS. "USAT: A Unified Score-Based Association Test for Multiple Phenotype-Genotype Analysis." Genet Epidemiol. 2016;40(1):20-34.
Köttgen A, Hwang S-J, Larson MG, et al. "Uromodulin levels associate with a common UMOD variant and risk for incident CKD." J Am Soc Nephrol. 2010;21(2):337-44.
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.
McAdams-Demarco MA, Maynard JW, Baer AN, Kao LW, Köttgen A. "A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study." Ann Rheum Dis. 2013;72(5):701-6.
Yee SWah, Stecula A, Chien H-C, et al. "Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies." PLoS Genet. 2019;15(9):e1008208.
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.
Verweij N, Mateo Leach I, Isaacs A, et al. "Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram." Hum Mol Genet. 2016;25(10):2093-2103.
Voight BF, Scott LJ, Steinthorsdottir V, et al. "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet. 2010;42(7):579-89.
Liu C-T, C Y Ng M, Rybin D, et al. "Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource." Diabetologia. 2012;55(11):2970-84.
C Y Ng M, Saxena R, Li J, et al. "Transferability and fine mapping of type 2 diabetes loci in African Americans: the Candidate Gene Association Resource Plus Study." Diabetes. 2013;62(3):965-76.
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.
Liu C-T, Raghavan S, Maruthur N, et al. "Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin." Am J Hum Genet. 2016;99(1):56-75.
Morris AP, Le TH, Wu H, et al. "Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies." Nat Commun. 2019;10(1):29.
Bien SA, Pankow JS, Haessler J, et al. "Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium." Diabetologia. 2017;60(12):2384-2398.
Hong J, Hatchell KE, Bradfield JP, et al. "Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations." J Clin Endocrinol Metab. 2018;103(4):1380-1392.
Gong J, Nishimura KK, Fernández-Rhodes L, et al. "Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI." Int J Obes (Lond). 2018;42(3):384-390.
Kanoni S, Nettleton JA, Hivert M-F, et al. "Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis." Diabetes. 2011;60(9):2407-16.
Köttgen A, Hwang S-J, Rampersaud E, et al. "TCF7L2 variants associate with CKD progression and renal function in population-based cohorts." J Am Soc Nephrol. 2008;19(10):1989-99.
Bielinski SJ, Pankow JS, Folsom AR, North KE, Boerwinkle E. "TCF7L2 single nucleotide polymorphisms, cardiovascular disease and all-cause mortality: the Atherosclerosis Risk in Communities (ARIC) study." Diabetologia. 2008;51(6):968-70.
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.
Lin H, Sinner MF, Brody JA, et al. "Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study." Heart Rhythm. 2014;11(3):452-7.
Tin A, Marten J, Kuhns VLHalperin, et al. "Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels." Nat Genet. 2019;51(10):1459-1474.
Roetker NS, Armasu SM, Pankow JS, et al. "Taller height as a risk factor for venous thromboembolism: a Mendelian randomization meta-analysis." J Thromb Haemost. 2017;15(7):1334-1343.
Davies G, Lam M, Harris SE, et al. "Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function." Nat Commun. 2018;9(1):2098.
Perry JRB, Voight BF, Yengo L, et al. "Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases." PLoS Genet. 2012;8(5):e1002741.
Lin H, Wang M, Brody JA, et al. "Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):335-43.
Wu B. "Statistical methods for association tests of multiple continuous traits in genome-wide association studies." Ann Hum Genet. 2015;79(4):282-93.
Volcik KA, Ballantyne CM, Coresh J, Folsom AR, Boerwinkle E. "Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke: the Atherosclerosis Risk in Communities (ARIC) study." Atherosclerosis. 2007;195(1):e76-82.
Demirkan A, Lahti J, Direk N, et al. "Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies." Psychol Med. 2016;46(8):1613-23.
Liang J, Le TH, Edwards DRVelez, et al. "Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations." PLoS Genet. 2017;13(5):e1006728.
Deo RC, Wilson JG, Xing C, et al. "Single-nucleotide polymorphisms in LPA explain most of the ancestry-specific variation in Lp(a) levels in African Americans." PLoS One. 2011;6(1):e14581.
Morrison AC, Bare LA, Luke MM, et al. "Single nucleotide polymorphisms associated with coronary heart disease predict incident ischemic stroke in the atherosclerosis risk in communities study." Cerebrovasc Dis. 2008;26(4):420-4.
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.
Dastani Z, Johnson T, Kronenberg F, Nelson CP, Assimes TL, März W. "The shared allelic architecture of adiponectin levels and coronary artery disease." Atherosclerosis. 2013;229(1):145-8.
Prudente S, Copetti M, Morini E, et al. "The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry." Nutr Metab Cardiovasc Dis. 2013;23(11):1043-9.
Larsson SC, Traylor M, Burgess S, Boncoraglio GB, Jern C, Michaëlsson K. "Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study." Neurology. 2019;92(9):e944-e950.
Rooney MR, Pankow JS, Sibley SD, Selvin E, Reis JP, Michos ED. "Serum calcium and incident type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) study." Am J Clin Nutr. 2016;104(4):1023-1029.
Magnani JW, Brody JA, Prins BP, et al. "Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium." Circ Cardiovasc Genet. 2014;7(3):365-73.
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.
Bis JC, White CC, Franceschini N, et al. "Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):359-64.
Feofanova EV, Yu B, Metcalf GA, et al. "Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study." Genetics. 2018;209(2):607-616.
Liu C-T, Young KL, Brody JA, et al. "Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):344-9.
Bressler J, Franceschini N, Demerath EW, Mosley TH, Folsom AR. "Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study." BMC Med Genet. 2015;16:52.
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.
Bressler J, Kao LWH, Pankow JS, Boerwinkle E. "Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study." PLoS One. 2010;5(5):e10521.
Jansen H, Willenborg C, Lieb W, et al. "Rheumatoid Arthritis and Coronary Artery Disease: Genetic Analyses Do Not Support a Causal Relation." J Rheumatol. 2017;44(1):4-10.
He C, Chasman DI, Dreyfus J, et al. "Reproductive aging-associated common genetic variants and the risk of breast cancer." Breast Cancer Res. 2012;14(2):R54.
Tang W, Saratzis A, Pattee J, et al. "Replication of Newly Identified Genetic Associations Between Abdominal Aortic Aneurysm and SMYD2, LINC00540, PCIF1/MMP9/ZNF335, and ERG." Eur J Vasc Endovasc Surg. 2020;59(1):92-97.
Carty CL, Spencer KL, Setiawan VW, et al. "Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study." Hum Reprod. 2013;28(6):1695-706.
Folsom AR, Tang W, Weng L-C, Roetker NS, Cushman M, Basu S. "Replication of a genetic risk score for venous thromboembolism in whites but not in African Americans." J Thromb Haemost. 2016;14(1):83-8.
Kantor DB, Palmer CD, Young TR, et al. "Replication and fine mapping of asthma-associated loci in individuals of African ancestry." Hum Genet. 2013;132(9):1039-47.
Zewinger S, Kleber ME, Tragante V, et al. "Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study." Lancet Diabetes Endocrinol. 2017;5(7):534-543.
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.
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.
Loomis SJ, Köttgen A, Li M, et al. "Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study." Sci Rep. 2019;9(1):5941.
Sims R, van der Lee SJ, Naj AC, et al. "Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease." Nat Genet. 2017;49(9):1373-1384.
Kapoor A, Bakshy K, Xu L, et al. "Rare coding TTN variants are associated with electrocardiographic QT interval in the general population." Sci Rep. 2016;6:28356.
Huffman JE, de Vries PS, Morrison AC, et al. "Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF." Blood. 2015;126(11):e19-29.
Reis JP, Michos ED, Selvin E, Pankow JS. "Race, vitamin D-binding protein gene polymorphisms, 25-hydroxyvitamin D, and incident diabetes: the Atherosclerosis Risk in Communities (ARIC) Study." Am J Clin Nutr. 2015;101(6):1232-40.
Muallem H, North KE, Kakoki M, et al. "Quantitative effects of common genetic variations in the 3'UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study." Hum Genet. 2007;121(3-4):421-31.
Folsom AR, Tang W, George KM, Heckbert SR, Maclehose RF, Cushman M. "Prospective study of γ' fibrinogen and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE)." Thromb Res. 2016;139:44-9.
Folsom AR, Cushman M, Tsai MY, Heckbert SR, Aleksic N. "Prospective study of the G20210A polymorphism in the prothrombin gene, plasma prothrombin concentration, and incidence of venous thromboembolism." Am J Hematol. 2002;71(4):285-90.
Sun D, Tiedt S, Yu B, et al. "A prospective study of serum metabolites and risk of ischemic stroke." Neurology. 2019;92(16):e1890-e1898.
Folsom AR, Tang W, Roetker NS, Heckbert SR, Cushman M. "Prospective study of circulating factor XI and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE)." Am J Hematol. 2015;90(11):1047-51.
Franceschini N, Hu Y, Reiner AP, et al. "Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study." PLoS One. 2014;9(12):e113203.
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).
Morrison AC, Bare LA, Chambless LE, et al. "Prediction of coronary heart disease risk using a genetic risk score: the Atherosclerosis Risk in Communities Study." Am J Epidemiol. 2007;166(1):28-35.