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ARIC Publications

Filters: Keyword is Genetic Variation  [Clear All Filters]
2021
Seplyarskiy VB, Soldatov RA, Koch E, et al. "Population sequencing data reveal a compendium of mutational processes in the human germ line." Science. 2021;373(6558):1030-1035.
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.
2019
Liu Y, Chen S, Li Z, Morrison AC, Boerwinkle E. "ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies." Am J Hum Genet. 2019;104(3):410-421.
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.
Kraja AT, Liu C, Fetterman JL, et al. "Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits." Am J Hum Genet. 2019;104(1):112-138.
Li Z, Li X, Liu Y, et al. "Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies." Am J Hum Genet. 2019;104(5):802-814.
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.
Satizabal CL, Adams HHH, Hibar DP, et al. "Genetic architecture of subcortical brain structures in 38,851 individuals." Nat Genet. 2019;51(11):1624-1636.
Sarnowski C, Leong A, Raffield LM, et al. "Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program." Am J Hum Genet. 2019;105(4):706-718.
Grams ME, Surapaneni A, Ballew SH, et al. " Kidney Risk Variants and Cardiovascular Disease: An Individual Participant Data Meta-Analysis." J Am Soc Nephrol. 2019;30(10):2027-2036.
He KY, Li X, Kelly TN, et al. "Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data." Hum Genet. 2019;138(2):199-210.
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.
Justice AE, Karaderi T, Highland HM, et al. "Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution." Nat Genet. 2019;51(3):452-469.
Wang A, Barber JR, Tin A, De Marzo AM, Köttgen A, Joshu CE. "Serum Urate, Genetic Variation, and Prostate Cancer Risk: Atherosclerosis Risk in Communities (ARIC) Study." Cancer Epidemiol Biomarkers Prev. 2019;28(7):1259-1261.
2018
Lin H, van Setten J, Smith AV, et al. "Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval." Circ Genom Precis Med. 2018;11(5):e002037.
Nandakumar P, Morrison AC, Grove ML, Boerwinkle E. "Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation." Medicine (Baltimore). 2018;97(33):e11865.
Jian X, Satizabal CL, Smith AV, et al. "Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging." Stroke. 2018;49(8):1812-1819.
Seidelmann SB, Feofanova E, Yu B, et al. "Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk." J Am Coll Cardiol. 2018;72(15):1763-1773.
Blue EE, Bis JC, Dorschner MO, et al. "Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project." Dement Geriatr Cogn Disord. 2018;45(1-2):1-17.
Klimentidis YC, Raichlen DA, Bea J, et al. "Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE." Int J Obes (Lond). 2018;42(6):1161-1176.
Loomis SJ, Li M, Maruthur NM, et al. "Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study." Diabetes. 2018;67(8):1684-1696.
Offenbacher S, Jiao Y, Kim SJ, et al. "GWAS for Interleukin-1β levels in gingival crevicular fluid identifies IL37 variants in periodontal inflammation." Nat Commun. 2018;9(1):3686.
Chatterjee R, Davenport CA, Raffield LM, et al. "KCNJ11 variants and their effect on the association between serum potassium and diabetes risk in the Atherosclerosis Risk in Communities (ARIC) Study and Jackson Heart Study (JHS) cohorts." PLoS One. 2018;13(8):e0203213.
Garg PK, Norby FL, Polfus LM, et al. "Lipoprotein-associated phospholipase A and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC)." Atherosclerosis. 2018;268:12-18.
Weng L-C, Guan W, Steffen LM, et al. "Pleiotropic effects of n-6 and n-3 fatty acid-related genetic variants on circulating hemostatic variables." Thromb Res. 2018;168:53-59.
Turcot V, Lu Y, Highland HM, et al. "Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity." Nat Genet. 2018;50(1):26-41.
Rosenthal EA, Shirts BH, Amendola LM, et al. "Rare loss of function variants in candidate genes and risk of colorectal cancer." Hum Genet. 2018;137(10):795-806.
Mahajan A, Wessel J, Willems SM, et al. "Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes." Nat Genet. 2018;50(4):559-571.
Sarnowski C, Satizabal CL, DeCarli C, et al. "Whole genome sequence analyses of brain imaging measures in the Framingham Study." Neurology. 2018;90(3):e188-e196.
2017
Richard MA, Huan T, Ligthart S, et al. "DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation." Am J Hum Genet. 2017;101(6):888-902.
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.
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.
Scott RA, Scott LJ, Mägi R, et al. "An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans." Diabetes. 2017;66(11):2888-2902.
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.
Robinson-Cohen C, Lutsey PL, Kleber ME, et al. "Genetic Variants Associated with Circulating Parathyroid Hormone." J Am Soc Nephrol. 2017;28(5):1553-1565.
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.
Traylor M, Malik R, Nalls MA, et al. "Genetic variation at 16q24.2 is associated with small vessel stroke." Ann Neurol. 2017;81(3):383-394.
Wheeler E, Leong A, Liu C-T, et al. "Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis." PLoS Med. 2017;14(9):e1002383.
Marouli E, Graff M, Medina-Gomez C, et al. "Rare and low-frequency coding variants alter human adult height." Nature. 2017;542(7640):186-190.
Nandakumar P, Lee D, Richard MA, et al. "Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry." J Hypertens. 2017;35(7):1381-1389.
2016
Marioni RE, Yang J, Dykiert D, et al. "Assessing the genetic overlap between BMI and cognitive function." Mol Psychiatry. 2016;21(10):1477-82.
Norby FL, Eryd SAdamsson, Niemeijer MN, et al. "Association of Lipid-Related Genetic Variants with the Incidence of Atrial Fibrillation: The AFGen Consortium." PLoS One. 2016;11(3):e0151932.
Khera AV, Won H-H, Peloso GM, et al. "Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia." J Am Coll Cardiol. 2016;67(22):2578-89.
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.
Ligthart S, Marzi C, Aslibekyan S, et al. "DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases." Genome Biol. 2016;17(1):255.
Wu B, Guan W. "On Efficient and Accurate Calculation of Significance P-Values for Sequence Kernel Association Testing of Variant Set." Ann Hum Genet. 2016;80(2):123-35.
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.
Guo D-C, Grove ML, Prakash SK, et al. "Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections." Am J Hum Genet. 2016;99(3):762-769.
Yazdani A, Yazdani A, Samiei A. "Identification, analysis, and interpretation of a human serum metabolomics causal network in an observational study." J Biomed Inform. 2016;63:337-343.
Yazdani A, Yazdani A, Liu X. "Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis." Genet Epidemiol. 2016;40(6):486-91.
Roberts JD, Dewland TA, Glidden DV, et al. "Impact of genetic variants on the upstream efficacy of renin-angiotensin system inhibitors for the prevention of atrial fibrillation." Am Heart J. 2016;175:9-17.
Yu B, Li AH, Metcalf GA, et al. "Loss-of-function variants influence the human serum metabolome." Sci Adv. 2016;2(8):e1600800.
Liu C, Kraja AT, Smith JA, et al. "Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci." Nat Genet. 2016;48(10):1162-70.
Hill WD, Davies G, Harris SE, et al. "Molecular genetic aetiology of general cognitive function is enriched in evolutionarily conserved regions." Transl Psychiatry. 2016;6(12):e980.
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.
Eicher JD, Chami N, Kacprowski T, et al. "Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals." Am J Hum Genet. 2016;99(1):40-55.
Olfson E, Saccone NL, Johnson EO, et al. "Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans." Mol Psychiatry. 2016;21(5):601-7.
Zanoni P, Khetarpal SA, Larach DB, et al. "Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease." Science. 2016;351(6278):1166-71.
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.
Farlow JL, Robak LA, Hetrick K, et al. "Whole-Exome Sequencing in Familial Parkinson Disease." JAMA Neurol. 2016;73(1):68-75.
2015
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.
Polfus LM, Gibbs RA. "Coronary heart disease and genetic variants with low phospholipase A2 activity." N Engl J Med. 2015;372(3):295-6.
Gonzaga-Jauregui C, Harel T, Gambin T, et al. "Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy." Cell Rep. 2015;12(7):1169-83.
Sitlani CM, Rice KM, Lumley T, et al. "Generalized estimating equations for genome-wide association studies using longitudinal phenotype data." Stat Med. 2015;34(1):118-30.
Karaca E, Harel T, Pehlivan D, et al. "Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease." Neuron. 2015;88(3):499-513.
Xu H, Zhang H, Yang W, et al. "Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children." Nat Commun. 2015;6:7553.
Day FR, Ruth KS, Thompson DJ, et al. "Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair." Nat Genet. 2015;47(11):1294-1303.
Wessel J, Chu AY, Willems SM, et al. "Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility." Nat Commun. 2015;6:5897.
van der Lee SJ, Holstege H, Wong THang, et al. "PLD3 variants in population studies." Nature. 2015;520(7545):E2-3.
Auer PL, Nalls M, Meschia JF, et al. "Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project." JAMA Neurol. 2015;72(7):781-8.
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.
Lunetta KL, Day FR, Sulem P, et al. "Rare coding variants and X-linked loci associated with age at menarche." Nat Commun. 2015;6:7756.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.

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