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Ciccarone Articles

Ciccarone Center Research

Topic

Genetics

Landmark Article

Associations between NOS1AP single nucleotide polymorphisms (SNPs) and QT interval duration in four racial/ethnic grops in the Multi-Ethnic Study of Atherosclerosis (MESA).
By: Shah SA, Herrington DM, Howard TD, Divers J, Arnett DK, Burke GL, Kao WH, Guo X, Siscovick DS, Chakravarti A, Lima JA, Psaty BM, Tomaselli GF, Rich SS, Bowden DW, Post W.

QT is a risk factor for sudden cardiac death. This study used the Multi-Ethnic Study of Atherosclerosis to examine association of QT with NOS1AP variants in an ethnically diverse cohort.

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Impact of ancestry and common genetic variants on QT interval in African Americans.
By: Smith JG, Avery CL, Evans DS, Nalls MA, Meng YA, Smith EN, Palmer C, Tanaka T, Mehra R, Butler AM, Young T, Buxbaum SG, Kerr KF, Berenson GS, Schnabel RB, Li G, Ellinor PT, Magnani JW, Chen W, Bis JC, Curb JD, Hsueh WC, Rotter JI, Liu Y, Newman AB, Limacher MC, North KE, Reiner AP, Quibrera PM, Schork NJ, Singleton AB, Psaty BM, Soliman EZ, Solomon AJ, Srinivasan SR, Alonso A, Wallace R, Redline S, Zhang ZM, Post WS, Zonderman AB, Taylor HA, Murray SS, Ferrucci L, Arking DE, Newton-Cheh C, et al.; CARe and COGENT consortia.
This study tested the hypotheses that African ancestry and common genetic variants are associated with prolonged duration of cardiac repolarization, a central pathophysiological determinant of arrhythmia. However, no difference in duration of cardiac repolarization with global genetic indices of African-American ancestry was noted.
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Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
By: Elbers CC, Guo Y, Tragante V, van Iperen EP, Lanktree MB, Castillo BA, Chen F, Yanek LR, Wojczynski MK, Li YR, Ferwerda B, Ballantyne CM, Buxbaum SG, Chen YD, Chen WM, Cupples LA, Cushman M, Duan Y, Duggan D, Evans MK, Fernandes JK, Fornage M, Garcia M, Garvey WT, Glazer N, Gomez F, Harris TB, Halder I, Howard VJ, Keller MF, Kamboh MI, Kooperberg C, Kritchevsky SB, LaCroix A, Liu K, Liu Y, Musunuru K, Newman AB, Onland-Moret NC, Ordovas J, Peter I, Post W, Redline S, Reis SE, Saxena R, Schreiner PJ, Volcik KA, Wang X, Yusuf S, Zonderland AB, Anand SS, Becker DM, Psaty B, Rader DJ, Reiner AP, Rich SS, Rotter JI, Wilson JG, Keating BJ, et al.
Meta-analyses of European populations has successfully identified genetic variants in over 100 loci associated with lipid levels. This study seeks to expand our knowledge in other ethnicities, which remains limited.
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Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
By: Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YD, Gaunt TR, Gong Y, Hopewell JC, Johnson T, Kleber ME, Langaee TY, Li M, Li YR, Liu K, McDonough CW, Meijs MF, Middelberg RP, Musunuru K, Post WS, et al.
This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple single nucleotide polymorphisms not previously described in established lipid genes and several previously unknown loci, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.
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Response to catecholamine stimulation of polymorphisms of the beta-1 and beta-2 adrenergic receptors.
By: McLean RC, Baird SW, Becker LC, Townsend SN, Gerstenblith G, Kass DA, Tomaselli GF, Schulman SP.
This study concludes that beta receptor gene variants significantly influence inotropic and chronotropic responses to beta-agonist exposure in patients on beta blocker therapy.
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Association of SRB1 variants with subclinical atherosclerosis and incident cardiovascular disease: The Multi-Ethnic Study of Atherosclerosis.
By: Manichaikul A, Naj AC, Herrington D, Post W, Rich SS, Rodriguez A.

We previously reported a statistically significant association of SCARB1 intronic single nucleotide polymorphism (SNP) rs10846744 with common carotid intimal-medial artery thickness in each of the 4 Multi-Ethnic Study of Atherosclerosis racial/ethnic groups (white, Chinese, black, and Hispanic). The SCARB1 SNP, rs10846744, exerts a major effect on subclinical atherosclerosis and incident cardiovascular disease in humans.

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Pharmacogenetics of antihypertensive response.
By: Campbell CY, Blumenthal RS.
We review the current status of the use of pharmacogenetic techniques to improve blood pressure control.
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Common genetic variation in the 3’-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.
By: Mitchell GF, Verwoert GC, Tarasov KV, Isaacs A, Smith AV, Yasmin, Rietzschel ER, Tanaka T, Liu Y, Parsa A, Najjar SS, O’Shaughnessy KM, Sigurdsson S, De Buyzere ML, Larson MG, Sie MP, Andrews JS, Post WS, et al.

Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events. Common genetic variation in a locus in the BCL11B gene desert that is thought to harbor 1 or more gene enhancers is associated with higher CFPWV and increased risk for cardiovascular disease. Elucidation of the role this novel locus plays in aortic stiffness may facilitate development of therapeutic interventions that limit aortic stiffening and related cardiovascular disease events.

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Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
By: O’Donnell CJ, Kavousi M, Smith AV, Kardia SL, Feitosa MF, Hwang SJ, Sun YV, Province MA, Aspelund T, Dehghan A, Hoffmann U, Bielak LF, Zhang Q, Eiriksdottir G, van Duijn CM, Fox CS, de Andrade M, Kraja AT, Sigurdsson S, Elias-Smale SE, Murabito JM, Launer LJ, van der Lugt A, Kathiresan S; CARDIoGRAM Consortium, Krestin GP, Herrington DM, Howard TD, Liu Y, Post W, et al.

Coronary artery calcification (CAC) detected by computed tomography is a noninvasive measure of coronary atherosclerosis, which underlies most cases of myocardial infarction (MI). We sought to identify common genetic variants associated with CAC and further investigate their associations with MI. SNPs in the 9p21 and PHACTR1 gene loci were strongly associated with CAC and MI, and there are suggestive associations with both CAC and MI of SNPs in additional loci. Multiple genetic loci are associated with development of both underlying coronary atherosclerosis and clinical events.

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Heat acclimation and exercise training interact when combined in an overriding and trade-off manner: physiologic-genomic linkage.
By: Kodesh E, Nesher N, Simaan A, Hochner B, Beeri R, Gilon D, Stern MD, Gerstenblith G, Horowitz M.
Combined heat acclimation (AC) and exercise training (EX) enhance exercise performance in the heat while meeting thermoregulatory demands. We suggest that concerted adjustments induced by AC and EX lead to enhanced metabolic and mechanical performance of the EXAC heart.
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