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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.
Adib-Samii P, Rost N, Traylor M, et al. "17q25 Locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status." Stroke. 2013;44(6):1609-15.
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.
Nambi V, Boerwinkle E, Lawson K, et al. "The 9p21 genetic variant is additive to carotid intima media thickness and plaque in improving coronary heart disease risk prediction in white participants of the Atherosclerosis Risk in Communities (ARIC) Study." Atherosclerosis. 2012;222(1):135-7.
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.
London SJ, Gao W, Gharib SA, et al. "ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):350-8.
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.
Charles BA, Hsieh MM, Adeyemo AA, et al. "Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia." PLoS One. 2018;13(3):e0194400.
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.
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.
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.
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.
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.
Lindström S, Germain M, Crous-Bou M, et al. "Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study." Hum Genet. 2017;136(7):897-902.
Marioni RE, Yang J, Dykiert D, et al. "Assessing the genetic overlap between BMI and cognitive function." Mol Psychiatry. 2016;21(10):1477-82.
Ellervik C, Roselli C, Christophersen IE, et al. "Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation: A Mendelian Randomization Study." JAMA Cardiol. 2019;4(2):144-152.
Rannikmae K, Sivakumaran V, Millar H, et al. " is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls." Neurology. 2017;89(17):1829-1839.
Speliotes EK, Willer CJ, Berndt SI, et al. "Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index." Nat Genet. 2010;42(11):937-48.
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.
Haycock PC, Burgess S, Nounu A, et al. "Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study." JAMA Oncol. 2017;3(5):636-651.
O'Seaghdha CM, Tin A, Yang Q, et al. "Association of a cystatin C gene variant with cystatin C levels, CKD, and risk of incident cardiovascular disease and mortality." Am J Kidney Dis. 2014;63(1):16-22.
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.
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.
Huang T, Wang T, Zheng Y, et al. "Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study." JAMA Netw Open. 2019;2(9):e1910915.
Franceschini N, North KE, Arnett D, et al. "The association of cell cycle checkpoint 2 variants and kidney function: findings of the Family Blood Pressure Program and the Atherosclerosis Risk In Communities study." Am J Hypertens. 2009;22(5):552-8.
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.
Yu B, Barbalic M, Brautbar A, et al. "Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies." Circ Cardiovasc Genet. 2013;6(1):82-8.
Smith NL, Felix JF, Morrison AC, et al. "Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium." Circ Cardiovasc Genet. 2010;3(3):256-66.
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.
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.
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.
Dehghan A, Yang Q, Peters A, et al. "Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts." Circ Cardiovasc Genet. 2009;2(2):125-33.
Song J, Xue C, Preisser JS, et al. "Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity." PLoS One. 2016;11(9):e0160757.
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.
Willems SM, Cornes BK, Brody JA, et al. "Association of the IGF1 gene with fasting insulin levels." Eur J Hum Genet. 2016;24(9):1337-43.
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.
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.
Mishra A, Chauhan G, Violleau M-H, et al. "Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects." Brain. 2019;142(4):1009-1023.
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.
Carty CL, Bůžková P, Fornage M, et al. "Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study." Circ Cardiovasc Genet. 2012;5(2):210-6.
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.
Bis JC, Destefano A, Liu X, et al. "Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium." PLoS One. 2014;9(6):e99798.
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.
Ray D, Li X, Pan W, Pankow JS. "A Bayesian Partitioning Model for the Detection of Multilocus Effects in Case-Control Studies." Hum Hered. 2015;79(2):69-79.
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.
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.
Ma L, Keinan A. "Biological knowledge-driven analysis of epistasis in human GWAS with application to lipid traits." Methods Mol Biol. 2015;1253:35-45.
Kraja AT, Vaidya D, Pankow JS, et al. "A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium." Diabetes. 2011;60(4):1329-39.
Wuttke M, Li Y, Li M, et al. "A catalog of genetic loci associated with kidney function from analyses of a million individuals." Nat Genet. 2019;51(6):957-972.
Holmes MV, Lange LA, Palmer T, et al. "Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis." Am J Hum Genet. 2014;94(2):198-208.
Yazdani A, Yazdani A. "A Causal Network Analysis of the Fatty Acid Metabolome in African-Americans Reveals a Critical Role for Palmitoleate and Margarate." OMICS. 2016;20(8):480-4.
Guo L, Akahori H, Harari E, et al. "CD163+ macrophages promote angiogenesis and vascular permeability accompanied by inflammation in atherosclerosis." J Clin Invest. 2018;128(3):1106-1124.
Dadu RT, Dodge R, Nambi V, et al. "Ceruloplasmin and heart failure in the Atherosclerosis Risk in Communities study." Circ Heart Fail. 2013;6(5):936-43.
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.
Rhodin K, Divaris K, North KE, Barros SP, Moss K, Beck JD. "Chronic periodontitis genome-wide association studies: gene-centric and gene set enrichment analyses." J Dent Res. 2014;93(9):882-90.
Sanders AE, Sofer T, Wong Q, et al. "Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos." J Dent Res. 2017;96(1):64-72.
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.
Thorgeirsson TE, Gudbjartsson DF, Sulem P, et al. "A common biological basis of obesity and nicotine addiction." Transl Psychiatry. 2013;3:e308.
Macri V, Brody JA, Arking DE, et al. "Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction." Circ Genom Precis Med. 2018;11(5):e001663.
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.
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.
Do R, Willer CJ, Schmidt EM, et al. "Common variants associated with plasma triglycerides and risk for coronary artery disease." Nat Genet. 2013;45(11):1345-52.
Soranzo N, Sanna S, Wheeler E, et al. "Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways." Diabetes. 2010;59(12):3229-39.
Bis JC, DeCarli C, Smith A V, et al. "Common variants at 12q14 and 12q24 are associated with hippocampal volume." Nat Genet. 2012;44(5):545-51.
Holliday EG, Maguire JM, Evans T-J, et al. "Common variants at 6p21.1 are associated with large artery atherosclerotic stroke." Nat Genet. 2012;44(10):1147-51.
Sotoodehnia N, Isaacs A, de Bakker PIW, et al. "Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction." Nat Genet. 2010;42(12):1068-76.
Ellinor PT, Lunetta KL, Glazer NL, et al. "Common variants in KCNN3 are associated with lone atrial fibrillation." Nat Genet. 2010;42(3):240-4.
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.
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.
Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K. "Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies." Hum Mol Genet. 2015;24(8):2125-37.
Ben-Avraham D, Karasik D, Verghese J, et al. "The complex genetics of gait speed: genome-wide meta-analysis approach." Aging (Albany NY). 2017;9(1):209-246.

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