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ARIC Publications

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Journal Article
Morrison AC, Bray MS, Folsom AR, Boerwinkle E. "ADD1 460W allele associated with cardiovascular disease in hypertensive individuals." Hypertension. 2002;39(6):1053-7.
Fu W, O'Connor TD, Jun G, et al. "Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants." Nature. 2013;493(7431):216-20.
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.
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.
Maxwell TJ, Ballantyne CM, Cheverud JM, Guild CS, Ndumele CE. "APOE modulates the correlation between triglycerides, cholesterol, and CHD through pleiotropy, and gene-by-gene interactions." Genetics. 2013;195(4):1397-405.
Foster MC, Coresh JJ, Fornage M, et al. "APOL1 variants associate with increased risk of CKD among African Americans." J Am Soc Nephrol. 2013;24(9):1484-91.
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.
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.
Shachter NS. "Apolipoproteins C-I and C-III as important modulators of lipoprotein metabolism." Curr Opin Lipidol. 2001;12(3):297-304.
Gottesman RF, Schneider ALC, Zhou Y, et al. "The ARIC-PET amyloid imaging study: Brain amyloid differences by age, race, sex, and APOE." Neurology. 2016;87(5):473-80.
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.
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.
Gottesman RF, Schneider ALC, Zhou Y, et al. "Association Between Midlife Vascular Risk Factors and Estimated Brain Amyloid Deposition." JAMA. 2017;317(14):1443-1450.
Chauhan G, Adams HHH, Bis JC, et al. "Association of Alzheimer's disease GWAS loci with MRI markers of brain aging." Neurobiol Aging. 2015;36(4):1765.e7-1765.e16.
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.
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.
Yu B, Li AH, Muzny D, et al. "Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease." Circ Cardiovasc Genet. 2015;8(2):351-5.
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.
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.
Clark DW, Okada Y, Moore KHS, et al. "Associations of autozygosity with a broad range of human phenotypes." Nat Commun. 2019;10(1):4957.
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.
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.
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.
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.
de Larriva APArenas, Alonso A, Norby FL, Roetker NS. "Circulating ceruloplasmin, ceruloplasmin-associated genes and the incidence of venous thromboembolism in the Atherosclerosis Risk in Communities study." J Thromb Haemost. 2019;17(5):818-826.
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.
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.
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.
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.
Shiffman D, Chasman DI, Ballantyne CM, Nambi V, Devlin JJ, Boerwinkle E. "Coronary heart disease risk, aspirin use, and apolipoprotein(a) 4399Met allele in the Atherosclerosis Risk in Communities (ARIC) study." Thromb Haemost. 2009;102(1):179-80.
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.
Franceschini N, van Rooij FJA, Prins BP, et al. "Discovery and fine mapping of serum protein loci through transethnic meta-analysis." Am J Hum Genet. 2012;91(4):744-53.
J Smith G, Felix JF, Morrison AC, et al. "Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure." PLoS Genet. 2016;12(5):e1006034.
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.
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.
Do R, Stitziel NO, Won H-H, et al. "Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction." Nature. 2015;518(7537):102-6.
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.
Folsom AR, Roetker NS, Kelley ST, Tang W. "Failure to replicate thrombomodulin genetic variant predictors of venous thromboembolism in African Americans." Blood. 2017;130(5):688-690.
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.
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.
Tin A, Balakrishnan P, Beaty TH, Boerwinkle E, Hoogeveen RC, Young JH. "GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study." Diabet Med. 2016;33(7):968-75.
Yu B, Zheng Y, Alexander D, Morrison AC, Coresh JJ. "Genetic determinants influencing human serum metabolome among African Americans." PLoS Genet. 2014;10(3):e1004212.
Gregson JM, Freitag DF, Surendran P, et al. "Genetic invalidation of Lp-PLA as a therapeutic target: Large-scale study of five functional Lp-PLA-lowering alleles." Eur J Prev Cardiol. 2017;24(5):492-504.
Hobbs BD, de Jong K, Lamontagne M, et al. "Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis." Nat Genet. 2017;49(3):426-432.
Lemaitre RN, Tanaka T, Tang W, et al. "Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium." PLoS Genet. 2011;7(7):e1002193.
Chatterjee NA, Giulianini F, Geelhoed B, et al. "Genetic Obesity and the Risk of Atrial Fibrillation: Causal Estimates from Mendelian Randomization." Circulation. 2017;135(8):741-754.
Holliday EG, Traylor M, Malik R, et al. "Genetic overlap between diagnostic subtypes of ischemic stroke." Stroke. 2015;46(3):615-9.
Lieb W, Jansen H, Loley C, et al. "Genetic predisposition to higher blood pressure increases coronary artery disease risk." Hypertension. 2013;61(5):995-1001.
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.
Fernández-Rhodes L, Malinowski JR, Wang Y, et al. "The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis." PLoS One. 2018;13(7):e0200486.
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.
Bressler J, Mosley TH, Penman A, et al. "Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study." Am J Med Genet B Neuropsychiatr Genet. 2017;174(3):269-282.
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, 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.
Arking DE, Reinier K, Post W, et al. "Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest." PLoS One. 2010;5(3):e9879.
Yu B, Zheng Y, Alexander D, Manolio TA, Alonso A, Nettleton JA. "Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study." Genet Epidemiol. 2013;37(8):840-5.
Joshi PK, Pirastu N, Kentistou KA, et al. "Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity." Nat Commun. 2017;8(1):910.
Mahajan A, Go MJin, Zhang W, et al. "Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility." Nat Genet. 2014;46(3):234-44.
van Rooij FJA, Qayyum R, Smith AV, et al. "Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis." Am J Hum Genet. 2017;100(1):51-63.
Scott RA, Freitag DF, Li L, et al. "A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease." Sci Transl Med. 2016;8(341):341ra76.
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.
Tin A, Grams ME, Maruthur NM, et al. "Hemostatic Factors, APOL1 Risk Variants, and the Risk of ESRD in the Atherosclerosis Risk in Communities Study." Clin J Am Soc Nephrol. 2015;10(5):784-90.
Arking DE, M Junttila J, Goyette P, et al. "Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals." PLoS Genet. 2011;7(6):e1002158.
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.
Bressler J, Fornage M, Hanis CL, et al. "The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts." BMC Med Genet. 2009;10:56.
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.
Lindström S, Brody JA, Turman C, et al. "A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
Pokharel Y, Sun W, Polfus LM, et al. "Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study." Atherosclerosis. 2015;241(2):641-8.
Chamberlain AM, Folsom AR, Schreiner PJ, Boerwinkle E, Ballantyne CM. "Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study." Atherosclerosis. 2008;200(2):322-8.
Hardy DS, Racette SB. "Macronutrient intake as a mediator with FTO to increase body mass index." J Am Coll Nutr. 2014;33(4):256-66.
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.
Harel T, Yesil G, Bayram Y, et al. "Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy." Am J Hum Genet. 2016;98(3):562-570.
Kapoor A, Lee D, Zhu L, et al. "Multiple variant enhancers modulate its cardiac gene expression and the QT interval." Proc Natl Acad Sci U S A. 2019;116(22):10636-10645.
Lee CR, North KE, Bray MS, et al. "NOS3 polymorphisms, cigarette smoking, and cardiovascular disease risk: the Atherosclerosis Risk in Communities study." Pharmacogenet Genomics. 2006;16(12):891-9.
Holmes MV, Exeter HJ, Folkersen L, et al. "Novel genetic approach to investigate the role of plasma secretory phospholipase A2 (sPLA2)-V isoenzyme in coronary heart disease: modified Mendelian randomization analysis using PLA2G5 expression levels." Circ Cardiovasc Genet. 2014;7(2):144-50.

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