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ARIC Publications

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Morrison AC, Bray MS, Folsom AR, Boerwinkle E. "ADD1 460W allele associated with cardiovascular disease in hypertensive individuals." Hypertension. 2002;39(6):1053-7.
Tandon A, Chen CJ, Penman A, et al. "African Ancestry Analysis and Admixture Genetic Mapping for Proliferative Diabetic Retinopathy in African Americans." Invest Ophthalmol Vis Sci. 2015;56(6):3999-4005.
C Quarta C, Buxbaum JN, Shah AM, et al. "The amyloidogenic V122I transthyretin variant in elderly black Americans." N Engl J Med. 2015;372(1):21-9.
Carty CL, Bhattacharjee S, Haessler J, et al. "Analysis of metabolic syndrome components in >15 000 african americans identifies pleiotropic variants: results from the population architecture using genomics and epidemiology study." Circ Cardiovasc Genet. 2014;7(4):505-13.
Arnett DK, Borecki IB, Ludwig EH, et al. "Angiotensinogen and angiotensin converting enzyme genotypes and carotid atherosclerosis: the atherosclerosis risk in communities and the NHLBI family heart studies." Atherosclerosis. 1998;138(1):111-6.
Blair CK, Folsom AR, Knopman DS, Bray MS, Mosley TH, Boerwinkle E. "APOE genotype and cognitive decline in a middle-aged cohort." Neurology. 2005;64(2):268-76.
Klos K, Shimmin L, Ballantyne C, et al. "APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels." Hum Mol Genet. 2008;17(13):2039-46.
Hsu CC, Kao LWH, Coresh J, et al. "Apolipoprotein E and progression of chronic kidney disease." JAMA. 2005;293(23):2892-9.
Wong T Y, Shankar A, Klein R, et al. "Apolipoprotein E gene and early age-related maculopathy: the Atherosclerosis Risk in Communities Study." Ophthalmology. 2006;113(2):255-9.
Liew G, Shankar A, Wang J J, et al. "Apolipoprotein E gene polymorphisms and retinal vascular signs: the atherosclerosis risk in communities (ARIC) study." Arch Ophthalmol. 2007;125(6):813-8.
Boland LL, Folsom AR, Boerwinkle E. "Apolipoprotein E genotype and gallbladder disease risk in a large population-based cohort." Ann Epidemiol. 2006;16(10):763-9.
Sturgeon JD, Folsom AR, Bray MS, Boerwinkle E, Ballantyne CM. "Apolipoprotein E genotype and incident ischemic stroke: the Atherosclerosis Risk in Communities Study." Stroke. 2005;36(11):2484-6.
Surguchov AP, Boerwinkle E, Sharett AR, Patsch WP. "Apolipoprotein E genotype and lipid transport: insight into the role of the epsilon 4 allele." Atherosclerosis. 1994;106(1):119-21.
Boerwinkle E, Brown S, Sharrett AR, Heiss G, Patsch W. "Apolipoprotein E polymorphism influences postprandial retinyl palmitate but not triglyceride concentrations." Am J Hum Genet. 1994;54(2):341-60.
Marioni RE, Yang J, Dykiert D, et al. "Assessing the genetic overlap between BMI and cognitive function." Mol Psychiatry. 2016;21(10):1477-82.
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.
Holmes MV, Dale CE, Zuccolo L, et al. "Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data." BMJ. 2014;349:g4164.
Murabito JM, White CC, Kavousi M, et al. "Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies." Circ Cardiovasc Genet. 2012;5(1):100-12.
Lin H, Mares JA, Lamonte MJ, et al. "Association between Dietary Xanthophyll (Lutein and Zeaxanthin) Intake and Early Age-Related Macular Degeneration: The Atherosclerosis Risk in Communities Study." Ophthalmic Epidemiol. 2017;24(5):311-322.
Rasmussen-Torvik LJ, Li M, Kao WH, et al. "Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) study." Diabetes. 2011;60(1):331-5.
Rasmussen-Torvik LJ, Cushman M, Tsai MY, et al. "The association of alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism in the LITE study." Thromb Res. 2007;121(1):1-7.
Johnson AD, Newton-Cheh C, Chasman DI, et al. "Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals." Hypertension. 2011;57(5):903-10.
Kingah PL, Luu HN, Volcik KA, Morrison AC, Nettleton JA, Boerwinkle E. "Association of NOS3 Glu298Asp SNP with hypertension and possible effect modification of dietary fat intake in the ARIC study." Hypertens Res. 2010;33(2):165-9.
Bi M, Kao W H L, Boerwinkle E, et al. "Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study." PLoS One. 2010;5(7):e11690.
Park SLani, Cheng I, Pendergrass SA, et al. "Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in multiple racial/ethnic populations: the PAGE study." Am J Epidemiol. 2013;178(5):780-90.
Cakir B, Heiss G, Pankow JS, et al. "Association of the Lewis genotype with cardiovascular risk factors and subclinical carotid atherosclerosis: the Atherosclerosis Risk in Communities (ARIC) study." J Intern Med. 2004;255(1):40-51.
Dehghan A, Köttgen A, Yang Q, et al. "Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study." Lancet. 2008;372(9654):1953-61.
Nettleton JA, Steffen LM, Ballantyne CM, Boerwinkle E, Folsom AR. "Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults." Atherosclerosis. 2007;194(2):e131-40.
Takiar R, Lutsey PL, Zhao D, et al. "The associations of 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms, and race with risk of incident fracture-related hospitalization: Twenty-year follow-up in a bi-ethnic cohort (the ARIC Study)." Bone. 2015;78:94-101.
Patsch W, Sharrett AR, Chen IY, et al. "Associations of allelic differences at the A-I/C-III/A-IV gene cluster with carotid artery intima-media thickness and plasma lipid transport in hypercholesterolemic-hypertriglyceridemic humans." Arterioscler Thromb. 1994;14(6):874-83.
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.
Folsom AR, Aleksic N, Ahn C, Boerwinkle E, Wu KK. "Beta-fibrinogen gene -455G/A polymorphism and coronary heart disease incidence: the Atherosclerosis Risk in Communities (ARIC) Study." Ann Epidemiol. 2001;11(3):166-70.
Teslovich TM, Musunuru K, Smith AV, et al. "Biological, clinical and population relevance of 95 loci for blood lipids." Nature. 2010;466(7307):707-13.
Kraja AT, Vaidya D, Pankow JS, et al. "A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium." Diabetes. 2011;60(4):1329-39.
Nettleton JA, Volcik KA, Hoogeveen RC, Boerwinkle E. "Carbohydrate intake modifies associations between ANGPTL4[E40K] genotype and HDL-cholesterol concentrations in White men from the Atherosclerosis Risk in Communities (ARIC) study." Atherosclerosis. 2009;203(1):214-20.
"Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis." Lancet Diabetes Endocrinol. 2015;3(4):243-53.
Natarajan P, Pampana A, Graham SE, et al. "Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices." Nat Commun. 2021;12(1):2182.
Wirka RC, Gore S, Van Wagoner DR, et al. "A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation." Circ Arrhythm Electrophysiol. 2011;4(1):87-93.
Deo R, Nalls MA, Avery CL, et al. "Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants." Heart Rhythm. 2013;10(3):401-8.
Lemaitre RN, Johnson CO, Hesselson S, et al. "Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest." Heart Rhythm. 2014;11(3):471-7.
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.
Ghaddar HM, Folsom AR, Aleksic N, et al. "Correlation of factor VIIa values with factor VII gene polymorphism, fasting and postprandial triglyceride levels, and subclinical carotid atherosclerosis." Circulation. 1998;98(25):2815-21.
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.
van der Laan SW, Fall T, Soumaré A, et al. "Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study." J Am Coll Cardiol. 2016;68(9):934-45.
Surguchov AP, Boerwinkle E, Sharrett AR, Patsch W. "Effect of apolipoprotein E polymorphism on fasting retinyl palmitate level." Biochem Mol Med. 1995;55(2):156-7.
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.
Kapoor A, Sekar RB, Hansen NF, et al. "An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval." Am J Hum Genet. 2014;94(6):854-69.
Joehanes R, Just AC, Marioni RE, et al. "Epigenetic Signatures of Cigarette Smoking." Circ Cardiovasc Genet. 2016;9(5):436-447.
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.
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.
Liu DJ, Peloso GM, Yu H, et al. "Exome-wide association study of plasma lipids in >300,000 individuals." Nat Genet. 2017;49(12):1758-1766.
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.
Folsom AR, Cushman M, Heckbert SR, Ohira T, Rasmussen-Torvik L, Tsai MY. "Factor VII coagulant activity, factor VII -670A/C and -402G/A polymorphisms, and risk of venous thromboembolism." J Thromb Haemost. 2007;5(8):1674-8.
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.
Knowles JW, Assimes TL, Boerwinkle E, et al. "Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD." BMC Med Genet. 2008;9:23.
Howson JMM, Zhao W, Barnes DR, et al. "Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms." Nat Genet. 2017;49(7):1113-1119.
Gong J, Schumacher F, Lim U, et al. "Fine Mapping and Identification of BMI Loci in African Americans." Am J Hum Genet. 2013;93(4):661-71.
Evans DS, Avery CL, Nalls MA, et al. "Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans." Hum Mol Genet. 2016;25(19):4350-4368.
Huang J, Wang K, Wei P, et al. "FLAGS: A Flexible and Adaptive Association Test for Gene Sets Using Summary Statistics." Genetics. 2016;202(3):919-29.
Knopman DS, Mosley TH, Catellier DJ, Coker LH. "Fourteen-year longitudinal study of vascular risk factors, APOE genotype, and cognition: the ARIC MRI Study." Alzheimers Dement. 2009;5(3):207-14.
Bien SA, Wojcik GL, Hodonsky CJ, et al. "The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE." Annu Rev Genomics Hum Genet. 2019;20:181-200.
Huang H, Chanda P, Alonso A, Bader JS, Arking DE. "Gene-based tests of association." PLoS Genet. 2011;7(7):e1002177.
Tragante V, Barnes MR, Ganesh SK, et al. "Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci." Am J Hum Genet. 2014;94(3):349-60.
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.
Lin H, Mueller-Nurasyid M, Smith AV, et al. "Gene-gene Interaction Analyses for Atrial Fibrillation." Sci Rep. 2016;6:35371.
Lin D-Y, Zeng D, Couper D. "A general framework for integrative analysis of incomplete multiomics data." Genet Epidemiol. 2020;44(7):646-664.
Yoneyama S, Yao J, Guo X, et al. "Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations." Int J Obes (Lond). 2017;41(2):324-331.
Yazdani A, Yazdani A, Samiei A. "Generating a robust statistical causal structure over 13 cardiovascular disease risk factors using genomics data." J Biomed Inform. 2016;60:114-9.
Weng L-C, Tang W, Rich SS, et al. "A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups." Thromb Res. 2014;134(2):462-7.
Arking DE, Pulit SL, Crotti L, et al. "Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization." Nat Genet. 2014;46(8):826-36.
Pattaro C, Teumer A, Gorski M, et al. "Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function." Nat Commun. 2016;7:10023.