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Article ; Online: Somatic Mutations in Cardiovascular Disease.

Heimlich, J Brett / Bick, Alexander G

2022 Volume 130, Issue 1, Page(s) 149–161

Abstract: Advances in population-scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA ... ...

Abstract	Advances in population-scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA mutations. In this review, we provide an overview of somatic mutations and their contributions to CVD. We focus on the most common and well-described manifestation, clonal hematopoiesis of indeterminate potential. We also review the currently available data regarding how somatic mutations lead to tissue mosaicism in various forms of CVD, including atrial fibrillation and aortic aneurism associated with Marfan Syndrome. Finally, we highlight future research directions given current knowledge gaps and consider how technological advances will enhance the discovery of somatic mutations in CVD and management of patients with somatic mutations.
MeSH term(s)	Animals ; Cardiovascular Diseases/genetics ; Cardiovascular Diseases/metabolism ; Clonal Hematopoiesis ; Humans ; Mosaicism ; Mutation
Language	English
Publishing date	2022-01-07
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80100-8
ISSN	1524-4571 ; 0009-7330 ; 0931-6876
ISSN (online)	1524-4571
ISSN	0009-7330 ; 0931-6876
DOI	10.1161/CIRCRESAHA.121.319809
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Article ; Online: Interleukin-6 Receptor Polymorphism Attenuates Clonal Hematopoiesis-Mediated Coronary Artery Disease Risk Among 451 180 Individuals in the UK Biobank.

Vlasschaert, Caitlyn / Heimlich, J Brett / Rauh, Michael J / Natarajan, Pradeep / Bick, Alexander G

Circulation

2023 Volume 147, Issue 4, Page(s) 358–360

MeSH term(s)	Humans ; Coronary Artery Disease ; Clonal Hematopoiesis ; Biological Specimen Banks ; Receptors, Interleukin-6/genetics ; United Kingdom ; Mutation
Chemical Substances	Receptors, Interleukin-6
Language	English
Publishing date	2023-01-23
Publishing country	United States
Document type	Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80099-5
ISSN	1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
ISSN (online)	1524-4539
ISSN	0009-7322 ; 0069-4193 ; 0065-8499
DOI	10.1161/CIRCULATIONAHA.122.062126
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Article ; Online: Reversible, regional ST-segment elevation due to chylothorax.

Brown, Sarah H / Neuss, Michael J / Heimlich, J Brett / Kronenberg, Marvin W

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc

2021 Volume 27, Issue 1, Page(s) e12907

Abstract: Chylothorax is an uncommon complication of thoracic surgery and, to our knowledge, has never been documented as a cause of dynamic ST-segment elevation (STE). A 63-year-old woman with history of right pneumonectomy presented with chest pain and regional ... ...

Abstract	Chylothorax is an uncommon complication of thoracic surgery and, to our knowledge, has never been documented as a cause of dynamic ST-segment elevation (STE). A 63-year-old woman with history of right pneumonectomy presented with chest pain and regional STE on 12-lead electrocardiogram (ECG). Normal troponin-I and a computed tomography (CT) scan showing a large right hemithoracic fluid collection indicated the unique cause of STE, which resolved after thoracentesis, was pericardial inflammation and cardiac compression from chylothorax. This case emphasizes nuances of ECG interpretation in the context of regional STE and explores the pathophysiology that links chylothorax with acute pericarditis.
MeSH term(s)	Arrhythmias, Cardiac ; Chest Pain ; Chylothorax/diagnostic imaging ; Chylothorax/etiology ; Electrocardiography ; Female ; Humans ; Middle Aged ; Retrospective Studies
Language	English
Publishing date	2021-11-07
Publishing country	United States
Document type	Case Reports
ZDB-ID	1325530-7
ISSN	1542-474X ; 1082-720X
ISSN (online)	1542-474X
ISSN	1082-720X
DOI	10.1111/anec.12907
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Article ; Online: Cost-Effective and Scalable Clonal Hematopoiesis Assay Provides Insight into Clonal Dynamics.

Mack, Taralynn / Vlasschaert, Caitlyn / von Beck, Kelly / Silver, Alexander J / Heimlich, J Brett / Poisner, Hannah / Condon, Henry R / Ulloa, Jessica / Sochacki, Andrew L / Spaulding, Travis P / Kishtagari, Ashwin / Bejan, Cosmin A / Xu, Yaomin / Savona, Michael R / Jones, Angela / Bick, Alexander G

The Journal of molecular diagnostics : JMD

2024

Abstract: Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related phenomenon in which hematopoietic stem cells acquire mutations in a select set of genes commonly mutated in myeloid neoplasia which then expand clonally. Current sequencing ... ...

Abstract	Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related phenomenon in which hematopoietic stem cells acquire mutations in a select set of genes commonly mutated in myeloid neoplasia which then expand clonally. Current sequencing assays to detect CHIP mutations are not optimized for the detection of these variants and can be cost-prohibitive when applied to large cohorts or to serial sequencing. In this study, an affordable (approximately US $8 per sample), accurate, and scalable sequencing assay for CHIP is introduced and validated. The efficacy of the assay was demonstrated by identifying CHIP mutations in a cohort of 456 individuals with DNA collected at multiple time points in Vanderbilt University's biobank and quantifying clonal expansion rates over time. A total of 101 individuals with CHIP/clonal cytopenia of undetermined significance were identified, and individual-level clonal expansion rate was calculated using the variant allele fraction at both time points. Differences in clonal expansion rate by driver gene were observed, but there was also significant individual-level heterogeneity, emphasizing the multifactorial nature of clonal expansion. Additionally, the study explores mutation co-occurrence and clonal competition between multiple driver mutations.
Language	English
Publishing date	2024-04-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	2000060-1
ISSN	1943-7811 ; 1525-1578
ISSN (online)	1943-7811
ISSN	1525-1578
DOI	10.1016/j.jmoldx.2024.03.007
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Article ; Online: Multiomic Profiling of Human Clonal Hematopoiesis Reveals Genotype and Cell-Specific Inflammatory Pathway Activation.

Heimlich, Jonathan Brett / Bhat, Pawan / Parker, Alyssa / Jenkins, Matthew T / Vlasschaert, Caitlyn / Ulloa, Jessica / Van Amburg, Joseph / Potts, Chad R / Olson, Sydney / Silver, Alexander J / Ahmad, Ayesha / Sharber, Brian / Brown, Donovan / Hu, Ningning / van Galen, Peter / Savona, Michael R / Bick, Alexander G / Ferrell, Paul Brent

Blood advances

2024

Abstract: Clonal hematopoiesis (CH) is an age-associated phenomenon that increases risk for hematologic malignancy and cardiovascular disease. CH is thought to enhance disease risk through inflammation in the peripheral blood1. Here, we profile peripheral blood ... ...

Abstract	Clonal hematopoiesis (CH) is an age-associated phenomenon that increases risk for hematologic malignancy and cardiovascular disease. CH is thought to enhance disease risk through inflammation in the peripheral blood1. Here, we profile peripheral blood gene expression in 66,968 single cells from a cohort of 17 CH patients and 7 controls. Using a novel mitochondrial DNA barcoding approach, we were able to identify and separately compare mutant TET2 and DNMT3A cells to non-mutant counterparts. We discovered the vast majority of mutated cells were in the myeloid compartment. Additionally, patients harboring DNMT3A and TET2 CH mutations possessed a pro-inflammatory profile in CD14+ monocytes through previously unrecognized pathways such as galectin and macrophage Inhibitory Factor (MIF). We also found that T cells from CH patients, though mostly un-mutated, had decreased expression of GTPase of the immunity associated protein (GIMAP) genes, which are critical to T cell development, suggesting that CH impairs T cell function.
Language	English
Publishing date	2024-03-20
Publishing country	United States
Document type	Journal Article
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023011445
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Article ; Online: Blockade of IL-6 signaling alleviates atherosclerosis in

Liu, Wenli / Yalcinkaya, Mustafa / Maestre, Inés Fernández / Olszewska, Malgorzata / Ampomah, Patrick B / Heimlich, J Brett / Wang, Ranran / Vela, Pablo Sánchez / Xiao, Tong / Bick, Alexander G / Levine, Ross / Papapetrou, Eirini P / Libby, Peter / Tabas, Ira / Wang, Nan / Tall, Alan R

Nature cardiovascular research

2023 Volume 2, Issue 6, Page(s) 572–586

Abstract: Clonal hematopoiesis (CH) increases the risk of atherosclerotic cardiovascular disease possibly due to increased plaque inflammation. Human studies suggest that limitation of interleukin-6 (IL-6) signaling could be beneficial in people with large CH ... ...

Abstract	Clonal hematopoiesis (CH) increases the risk of atherosclerotic cardiovascular disease possibly due to increased plaque inflammation. Human studies suggest that limitation of interleukin-6 (IL-6) signaling could be beneficial in people with large CH clones, particularly in
Language	English
Publishing date	2023-06-08
Publishing country	England
Document type	Journal Article
ISSN	2731-0590
ISSN (online)	2731-0590
DOI	10.1038/s44161-023-00281-3
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Article ; Online: Clonal Hematopoiesis and Inflammation in the VasculaturE (CHIVE): a prospective, longitudinal cohort and biorepository.

Shannon, Morgan L / Heimlich, Jonathan Brett / Olson, Sydney / Debevec, Ariana / Copeland, Zachary / Kishtagari, Ashwin / Vlasschaert, Caitlyn / Snider, Christina A / Silver, Alexander J / Brown, Donovan / Spaulding, Travis P / Bhatta, Manasa Ram / Pugh, Kelly / Stockton, Shannon S / Ulloa, Jessica / Xu, Yaomin / Baljevic, Muhamed / Moslehi, Javid / Jahangir, Eiman /

Ferrell, Paul Brent / Slosky, David Alan / Bick, Alexander G / Savona, Michael R

Blood advances

2024

Abstract: Clonal hematopoiesis (CH) is an age-associated phenomenon leading to increased risk of both hematologic malignancy and non-malignant organ dysfunction. Increasingly available genetic testing has made incidental discovery of CH clinically common, yet ... ...

Abstract	Clonal hematopoiesis (CH) is an age-associated phenomenon leading to increased risk of both hematologic malignancy and non-malignant organ dysfunction. Increasingly available genetic testing has made incidental discovery of CH clinically common, yet evidence-based guidelines and effective management strategies to prevent adverse CH health outcomes are lacking. To address this gap, the prospective CHIVE registry and biorepository was created to identify and monitor individuals at risk, support multidisciplinary CH clinics, and to refine standards of practice for CH risk mitigation. Data from the first 181 patients enrolled in this registry recapitulate the molecular epidemiology of CH from biobank scale retrospective studies, with DNMT3A, TET2, ASXL1, and TP53 as the most commonly mutated genes. CH patients had higher rates of end organ dysfunction, in particular chronic kidney disease (p=0.001). Among patients with CH, variant allele frequency was independently associated with presence of cytopenias (p=0.008) and progression to hematologic malignancy (p=0.010), while other common high-risk CH clone features were not clear. Notably, accumulation of multiple distinct high-risk clone features was also associated with cytopenias (p=0.013) and hematologic malignancy progression (p=0.004), supporting a recently published CH risk score. Surprisingly, ~30% of patients enrolled in CHIVE from CH clinics were adjudicated as not having CHIP, highlighting the need for molecular standards and purpose-built assays in this field. Maintenance of this well-annotated cohort and continued expansion of CHIVE to multiple institutions is underway and will be critical to understand how to thoughtfully care for this patient population.
Language	English
Publishing date	2024-04-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023011510
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Article: Variable reactive hyperemia in normotensive strains of rat.

Heimlich, J Brett / Pollock, David M

Physiological reports

2014 Volume 2, Issue 6

Abstract: Previous studies from our laboratory report variation in nitric oxide (NO)-dependent arterial pressure within the same strain of normotensive Sprague-Dawley rat dependent upon the commercial vendor supplying the rats. Clinical assessment of endothelial ... ...

Abstract	Previous studies from our laboratory report variation in nitric oxide (NO)-dependent arterial pressure within the same strain of normotensive Sprague-Dawley rat dependent upon the commercial vendor supplying the rats. Clinical assessment of endothelial NO activity and endothelial function in general has used postocclusion, flow-mediated dilation (FMD). Therefore, this study was conducted to determine whether the reactive hyperemic response was different between two normotensive strains from two different suppliers, Sprague-Dawley (SD) and Wistar-Kyoto (WKY) rats from Charles River (CR) and Harlan Laboratories (H), respectively. Rats were anesthetized and the femoral artery was occluded for 5 min, with femoral blood flow measured continuously by use of an ultrasonic perivascular flow probe. The average area under the reactive hyperemic response curve (3-min duration) was not different between SD rats from CR (80 ± 23 mL/min∙s; n = 6) and H (94 ± 16 mL/min∙s; n = 6). As previously reported, blood pressures were higher in the SD rats from H versus CR. WKY rats from both suppliers had significantly larger hyperemia; 371 ± 67 versus 281 ± 71 mL/min∙s (n = 5) for the CR and H WKY rats, respectively, but again, were not different between vendors. Blood pressures in WKY rats were similar between vendors. These results suggest that differences in NO bioactivity are not discernable with an adapted FMD protocol in the rat and that normotensive strains of rat can have large differences in reactive hyperemia despite having similar blood pressures.
Language	English
Publishing date	2014-06-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	2724325-4
ISSN	2051-817X
ISSN	2051-817X
DOI	10.14814/phy2.12052
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Article: Cost-effective and scalable clonal hematopoiesis assay provides insight into clonal dynamics.

Mack, Taralynn / Vlasschaert, Caitlyn / von Beck, Kelly / Silver, Alexander J / Heimlich, J Brett / Poisner, Hannah / Condon, Henry Robert / Ulloa, Jessica / Sochacki, Andrew L / Spaulding, Travis P / Kishtagari, Ashwin / Bejan, Cosmin A / Xu, Yaomin / Savona, Michael R / Jones, Angela / Bick, Alexander

medRxiv : the preprint server for health sciences

2023

Abstract: Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related phenomenon that occurs when hematopoietic stem cells acquire mutations in a select set of genes commonly mutated in myeloid neoplasia which then expand clonally. Current ... ...

Abstract	Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related phenomenon that occurs when hematopoietic stem cells acquire mutations in a select set of genes commonly mutated in myeloid neoplasia which then expand clonally. Current sequencing assays to detect CHIP are not optimized for the detection of these variants and can be cost-prohibitive when applied to large cohorts or serial sequencing. Here, we present and validate a CHIP targeted sequencing assay that is affordable (∼$8/sample), accurate and highly scalable. To demonstrate the utility of this assay, we detected CHIP in a cohort of 456 individuals with DNA collected at multiple timepoints in the Vanderbilt BioVU biobank and quantified clonal expansion rates over time. A total of 101 individuals with CHIP were identified, and individual-level clonal expansion rate was calculated using the variant allele fraction (VAF) at both timepoints. Differences in clonal expansion rate by driver gene were observed, but there was also significant individual-level heterogeneity, emphasizing the multifactorial nature of clonal expansion. We further describe the mutation co-occurrence and clonal competition between multiple driver mutations.
Language	English
Publishing date	2023-11-09
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.11.08.23298270
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Article ; Online: A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets.

Vlasschaert, Caitlyn / Mack, Taralynn / Heimlich, J Brett / Niroula, Abhishek / Uddin, Md Mesbah / Weinstock, Joshua / Sharber, Brian / Silver, Alexander J / Xu, Yaomin / Savona, Michael / Gibson, Christopher / Lanktree, Matthew B / Rauh, Michael J / Ebert, Benjamin L / Natarajan, Pradeep / Jaiswal, Siddhartha / Bick, Alexander G

Blood

2023 Volume 141, Issue 18, Page(s) 2214–2223

Abstract: Clonal hematopoiesis of indeterminate potential (CHIP) is a common form of age-related somatic mosaicism that is associated with significant morbidity and mortality. CHIP mutations can be identified in peripheral blood samples that are sequenced using ... ...

Abstract	Clonal hematopoiesis of indeterminate potential (CHIP) is a common form of age-related somatic mosaicism that is associated with significant morbidity and mortality. CHIP mutations can be identified in peripheral blood samples that are sequenced using approaches that cover the whole genome, the whole exome, or targeted genetic regions; however, differentiating true CHIP mutations from sequencing artifacts and germ line variants is a considerable bioinformatic challenge. We present a stepwise method that combines filtering based on sequencing metrics, variant annotation, and population-based associations to increase the accuracy of CHIP calls. We apply this approach to ascertain CHIP in ∼550 000 individuals in the UK Biobank complete whole exome cohort and the All of Us Research Program initial whole genome release cohort. CHIP ascertainment on this scale unmasks recurrent artifactual variants and highlights the importance of specialized filtering approaches for several genes, including TET2 and ASXL1. We show how small changes in filtering parameters can considerably increase CHIP misclassification and reduce the effect size of epidemiological associations. Our high-fidelity call set refines previous population-based associations of CHIP with incident outcomes. For example, the annualized incidence of myeloid malignancy in individuals with small CHIP clones is 0.03% per year, which increases to 0.5% per year among individuals with very large CHIP clones. We also find a significantly lower prevalence of CHIP in individuals of self-reported Latino or Hispanic ethnicity in All of Us, highlighting the importance of including diverse populations. The standardization of CHIP calling will increase the fidelity of CHIP epidemiological work and is required for clinical CHIP diagnostic assays.
MeSH term(s)	Humans ; Clonal Hematopoiesis/genetics ; Hematopoiesis/genetics ; Population Health ; Mutation ; Human Genetics
Language	English
Publishing date	2023-01-16
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2022018825
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