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Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Open accessAbstract
Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown 1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently been associated with both haematological cancer 2-4 and coronary heart disease 5-this phenomenon is termed clonal haematopoiesis of indeterminate potential (CHIP)6. Simultaneous analyses of germline and somatic whole-genome sequences provide the opportunity to identify root causes of CHIP. Here we analyse high-coverage whole-genome sequences from 97,691 participants of diverse ancestries in the National Heart, Lung, and Blood Institute Trans-omics for Precision Medicine (TOPMed) programme, and identify 4,229 individuals with CHIP. We identify associations with blood cell, lipid and inflammatory traits that are specific to different CHIP driver genes. Association of a genome-wide set of germline genetic variants enabled the identification of three genetic loci associated with CHIP status, including one locus at TET2 that was specific to individuals of African ancestry. In silico-informed in vitro evaluation of the TET2 germline locus enabled the identification of a causal variant that disrupts a TET2 distal enhancer, resulting in increased self-renewal of haematopoietic stem cells. Overall, we observe that germline genetic variation shapes haematopoietic stem cell function, leading to CHIP through mechanisms that are specific to clonal haematopoiesis as well as shared mechanisms that lead to somatic mutations across tissues.
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“Clone size, which is approximated by the variant allele fraction (VAF), has previously been shown to be an important predictor of risk for blood cancer1,17 and cardiovascular outcomes8,9.”
From Clonal hematopoiesis is associated with protection from Alzheimer’s disease (2023) · cites this paper as [9]
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“positive correlations were observed between IL-6 levels and DNMT3A, TET2, and ASXL1 mutant CH, heightened IL-18 levels with JAK2 and SF3B1 [20]”
From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [20]
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“Increased levels of inflammatory cytokines and chemokines have been recognized as a significant association with CH in human studies, even following stem cell transplantation with donor-derived CH in the hosts [20,32,58].”
From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [20]
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“Elevated IL-8 and IL-1β levels have been reported in patients with TET2 CH in the Pakistan Risk of Myocardial Infarction Study (PROMIS) [20,32]”
From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [20]
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“It has been observed in several cohorts that the VAFs of CH clones are typically small and do not expand significantly without additional transforming events [20,88].”
From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [20]
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“a recent screen for inflammatory markers in up to 22 092 individuals with CHIP revealed that increased IL-1β circulating levels associate significantly and exclusively with TET2 mutant CHIP”
From Aging drives Tet2 +/− clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [44]
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“We further confirmed the enrichment of somatic variants in AD when considering only CHIP variants previously identified from blood whole-genome sequencing datasets25,37 (Figure S3A–C).”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [37]
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“thus in parallel validating our mouse model findings of IL-1 as a likely relevant inflammatory determinant of TET2 CHIP in the human population.44”
From Aging drives Tet2 +/− clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [44]
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Metadata
- Authors
- Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., Chang, K., Laurie, C., Burugula, B. B., Gibson, C. J., Niroula, A., Lin, A. E., Taub, M. A., Aguet, F., Ardlie, K., Mitchell, B. D., Barnes, K. C., Moscati, A., Fornage, M., Redline, S., Psaty, B. M., Silverman, E. K., Weiss, S. T., Palmer, N. D., Vasan, R. S., Burchard, E. G., Kardia, S. L. R., He, J., Kaplan, R. C., Smith, N. L., Arnett, D. K., Schwartz, D. A., Correa, A., de Andrade, M., Guo, X., Konkle, B. A., Custer, B., Peralta, J. M., Gui, H., Meyers, D. A., McGarvey, S. T., Chen, I. Y.-D., Shoemaker, M. B., Peyser, P. A., Broome, J. G., Gogarten, S. M., Wang, F. F., Wong, Q., Montasser, M. E., Daya, M., Kenny, E. E., North, K. E., Launer, L. J., Cade, B. E., Bis, J. C., Cho, M. H., Lasky-Su, J., Bowden, D. W., Cupples, L. A., Mak, A. C. Y., Becker, L. C., Smith, J. A., Kelly, T. N., Aslibekyan, S., Heckbert, S. R., Tiwari, H. K., Yang, I. V., Heit, J. A., Lubitz, S. A., Johnsen, J. M., Curran, J. E., Wenzel, S. E., Weeks, D. E., Rao, D. C., Darbar, D., Moon, J.-Y., Tracy, R. P., Buth, E. J., Rafaels, N., Loos, R. J. F., Durda, P., Liu, Y., Hou, L., Lee, J., Kachroo, P., Freedman, B. I., Levy, D., Bielak, L. F., Hixson, J. E., Floyd, J. S., Whitsel, E. A., Ellinor, P. T., Irvin, M. R., Fingerlin, T. E., Raffield, L. M., Armasu, S. M., Wheeler, M. M., Sabino, E. C., Blangero, J., Williams, L. K., Levy, B. D., Sheu, W. H.-H., Roden, D. M., Boerwinkle, E., Manson, J. E., Mathias, R. A., Desai, P., Taylor, K. D., Johnson, A. D., NHLBI Trans-Omics for Precision Medicine Consortium, Abe, N., Albert, C., Almasy, L., Alonso, A., Ament, S., Anderson, P., Anugu, P., Applebaum-Bowden, D., Arking, D., Ashley-Koch, A., Aslibekyan, S., Assimes, T., Avramopoulos, D., Barnard, J., Barr, R. G., Barron-Casella, E., Barwick, L., Beaty, T., Beck, G., Becker, D., Beer, R., Beitelshees, A., Benjamin, E., Benos, P., Bezerra, M., Bielak, L., Bowler, R., Brody, J., Broeckel, U., Bunting, K., Bustamante, C., Cardwell, J., Carey, V., Carty, C., Casaburi, R., Casella, J., Castaldi, P., Chaffin, M., Chang, C., Chang, Y.-C., Chasman, D., Chavan, S., Chen, B.-J., Chen, W.-M., Choi, S. H., Chuang, L.-M., Chung, M., Chung, R.-H., Clish, C., Comhair, S., Cornell, E., Crandall, C., Crapo, J., Curtis, J., Damcott, C., Das, S., David, S., Davis, C., DeBaun, M., Deka, R., DeMeo, D., Devine, S., Duan, Q., Duggirala, R., Dutcher, S., Eaton, C., Ekunwe, L., Boueiz, A. E., Emery, L., Erzurum, S., Farber, C., Flickinger, M., Franceschini, N., Frazar, C., Fu, M., Fullerton, S. M., Fulton, L., Gabriel, S., Gan, W., Gao, S., Gao, Y., Gass, M., Gelb, B., Geng, X., Geraci, M., Germer, S., Gerszten, R., Ghosh, A., Gibbs, R., Gignoux, C., Gladwin, M., Glahn, D., Gong, D.-W., Goring, H., Graw, S., Grine, D., Gu, C. C., Guan, Y., Gupta, N., Haessler, J., Hall, M., Harris, D., Hawley, N. L., Heavner, B., Hernandez, R., Herrington, D., Hersh, C., Hidalgo, B., Hobbs, B., Hokanson, J., Hong, E., Hoth, K., Hsiung, C., Hung, Y.-J., Huston, H., Hwu, C. M., Jackson, R., Jain, D., Jaquish, C., Jhun, M. A., Johnson, C., Johnston, R., Jones, K., Kang, H. M., Kelly, S., Kessler, M., Khan, A., Kim, W., Kinney, G., Kramer, H., Lange, C., LeBoff, M., Lee, S. S., Lee, W.-J., LeFaive, J., Levine, D., Lewis, J., Li, X., Li, Y., Lin, H., Lin, H., Lin, K. H., Lin, X., Liu, S., Liu, Y., Lunetta, K., Luo, J., Mahaney, M., Make, B., Manichaikul, A., Margolin, L., Martin, L., Mathai, S., May, S., McArdle, P., McDonald, M.-L., McFarland, S., McGoldrick, D., McHugh, C., Mei, H., Mestroni, L., Mikulla, J., Min, N., Minear, M., Minster, R. L., Moll, M., Montgomery, C., Musani, S., Mwasongwe, S., Mychaleckyj, J. C., Nadkarni, G., Naik, R., Naseri, T., Nekhai, S., Nelson, S. C., Neltner, B., Nickerson, D., O’Connell, J., O’Connor, T., Ochs-Balcom, H., Paik, D., Pankow, J., Papanicolaou, G., Parsa, A., Perez, M., Perry, J., Peters, U., Peyser, P., Phillips, L. S., Pollin, T., Post, W., Becker, J. P., Boorgula, M. P., Preuss, M., Qasba, P., Qiao, D., Qin, Z., Rasmussen-Torvik, L., Ratan, A., Reed, R., Regan, E., Sefuiva Reupena, M., Rice, K., Roselli, C., Ruczinski, I., Russell, P., Ruuska, S., Ryan, K., Saleheen, D., Salimi, S., Salzberg, S., Sandow, K., Scheller, C., Schmidt, E., Schwander, K., Sciurba, F., Seidman, C., Seidman, J., Sheehan, V., Sherman, S. L., Shetty, A., Shetty, A., Silver, B., Smith, J., Smith, T., Smoller, S., Snively, B., Snyder, M., Sofer, T., Sotoodehnia, N., Stilp, A. M., Storm, G., Streeten, E., Su, J. L., Sung, Y. J., Sylvia, J., Szpiro, A., Sztalryd, C., Taliun, D., Tang, H., Taylor, M., Taylor, S., Telen, M., Thornton, T. A., Threlkeld, M., Tinker, L., Tirschwell, D., Tishkoff, S., Tiwari, H., Tong, C., Tsai, M., Vaidya, D., Berg, D. V. D., VandeHaar, P., Vrieze, S., Walker, T., Wallace, R., Walts, A., Wang, H., Watson, K., Weir, B., Weng, L.-C., Wessel, J., Willer, C., Williams, K., Wilson, C., Wu, J., Xu, H., Yanek, L., Yang, R., Zaghloul, N., Zhang, Y., Zhao, S. X., Zhao, W., Zhi, D., Zhou, X., Zhu, X., Zody, M., Zoellner, S., Auer, P. L., Kooperberg, C., Laurie, C. C., Blackwell, T. W., Smith, A. V., Zhao, H., Lange, E., Lange, L., Rich, S. S., Rotter, J. I., Wilson, J. G., Scheet, P., Kitzman, J. O., Lander, E. S., Engreitz, J. M., Ebert, B. L., Reiner, A. P., Jaiswal, S., Abecasis, G., Sankaran, V. G., Kathiresan, S., & Natarajan, P.
- Affiliations
- Broad Institute (US)
- University of Michigan (US)
- University of Colorado Anschutz (US)
- The University of Texas MD Anderson Cancer Center (US)
- University of Washington (US)
- Dana-Farber Cancer Institute (US)
- Brigham and Women's Hospital (US)
- Johns Hopkins University (US)
- University of Maryland, Baltimore (US)
- Icahn School of Medicine at Mount Sinai (US)
- Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (US)
- Kaiser Permanente Washington Health Research Institute (US)
- Wake Forest University Health Sciences (US)
- Boston University (US)
- University of California, San Francisco (US)
- Tulane University (US)
- Albert Einstein College of Medicine (US)
- United States Department of Veterans Affairs (US)
- University of Kentucky (US)
- University of Mississippi Medical Center (US)
- Mayo Clinic (US)
- The Lundquist Institute (US)
- The University of Texas Rio Grande Valley (US)
- Henry Ford Health (US)
- University of Arizona (US)
- Brown University (US)
- Vanderbilt University Medical Center (US)
- University of North Carolina at Chapel Hill (US)
- National Institutes of Health (US)
- University of Alabama at Birmingham (US)
- University of Pittsburgh (US)
- Washington University in St. Louis (US)
- University of Illinois Chicago (US)
- University of Vermont (US)
- Duke Medical Center (US)
- Northwestern University (US)
- The University of Texas Health Science Center at Houston (US)
- National Jewish Health (US)
- Taichung Veterans General Hospital (TW)
- Baylor College of Medicine (US)
- Weill Cornell Medicine (US)
- New York Genome Center (US)
- Children's Hospital of Philadelphia (US)
- University of Mississippi (US)
- Cleveland Clinic (US)
- Columbia University (US)
- Emmes (United States) (US)
- Medical College of Wisconsin (US)
- Stanford University (US)
- Washington State University (US)
- University of California, Los Angeles (US)
- National Taiwan University Hospital (TW)
- University of Virginia (US)
- National Health Research Institutes (TW)
- University of Chicago (US)
- Vanderbilt University (US)
- University of Cincinnati (US)
- Fred Hutch Cancer Center (US)
- Indiana University School of Medicine (US)
- Harvard University (US)
- Yale University (US)
- McGill University (CA)
- Atrium Health Wake Forest Baptist (US)
- University of Iowa (US)
- Tri-Service General Hospital (TW)
- Bloodworks Northwest (US)
- The Ohio State University Wexner Medical Center (US)
- Emory University (US)
- Loyola University Chicago (US)
- University of Wisconsin–Milwaukee (US)
- Oklahoma Medical Research Foundation (US)
- Howard University (US)
- Stanford Cardiovascular Institute (US)
- University of Minnesota (US)
- UMass Memorial Medical Center (US)
- Duke University (US)
- University of Pennsylvania (US)
- University of Southern California (US)
- Indiana University Indianapolis (US)
- Case Western Reserve University (US)
- Beth Israel Deaconess Medical Center (US)
- Stanford Medicine (US)
- Regeneron (United States) (US)
- Corresponding author
- Kathiresan, Sekar
- Natarajan, Pradeep
- ORCID
- Bick, Alexander G.
- Weinstock, Joshua S.
- Nandakumar, Satish K.
- Fulco, Charles P.
- Bao, Erik L.
- Zekavat, Seyedeh M.
- Szeto, Mindy D.
- Liao, Xiaotian
- Leventhal, Matthew J.
- Nasser, Joseph
- Laurie, Cecelia
- Burugula, Bala Bharathi
- Gibson, Christopher J.
- Niroula, Abhishek
- Lin, Amy E.
- Taub, Margaret A.
- Ardlie, Kristin
- Mitchell, Braxton D.
- Barnes, Kathleen C.
- Moscati, Arden
- Fornage, Myriam
- Redline, Susan
- Psaty, Bruce M.
- Silverman, Edwin K.
- Weiss, Scott T.
- Palmer, Nicholette D.
- Vasan, Ramachandran S.
- Burchard, Esteban G.
- He, Jiang
- Kaplan, Robert C.
- Smith, Nicholas L.
- Arnett, Donna K.
- Schwartz, David A.
- Correa, Adolfo
- de Andrade, Mariza
- Guo, Xiuqing
- Konkle, Barbara A.
- Custer, Brian
- Peralta, Juan M.
- Gui, Hongsheng
- Meyers, Deborah A.
- McGarvey, Stephen T.
- Shoemaker, M. Benjamin
- Broome, Jai G.
- Gogarten, Stephanie M.
- Wang, Fei Fei
- Wong, Quenna
- Montasser, May E.
- Daya, Michelle
- Kenny, Eimear E.
- North, Kari E.
- Launer, Lenore J.
- Cade, Brian E.
- Bis, Joshua C.
- Cho, Michael H.
- Bowden, Donald W.
- Cupples, L. Adrienne
- Mak, Angel C. Y.
- Becker, Lewis C.
- Smith, Jennifer A.
- Kelly, Tanika N.
- Heckbert, Susan R.
- Tiwari, Hemant K.
- Yang, Ivana V.
- Heit, John A.
- Lubitz, Steven A.
- Johnsen, Jill M.
- Curran, Joanne E.
- Wenzel, Sally E.
- Weeks, Daniel E.
- Rao, Dabeeru C.
- Darbar, Dawood
- Moon, Jee-Young
- Tracy, Russell P.
- Buth, Erin J.
- Rafaels, Nicholas
- Loos, Ruth J. F.
- Durda, Peter
- Liu, Yongmei
- Hou, Lifang
- Lee, Jiwon
- Kachroo, Priyadarshini
- Freedman, Barry I.
- Levy, Daniel
- Bielak, Lawrence F.
- Hixson, James E.
- Floyd, James S.
- Whitsel, Eric A.
- Ellinor, Patrick T.
- Irvin, Marguerite R.
- Fingerlin, Tasha E.
- Raffield, Laura M.
- Armasu, Sebastian M.
- Wheeler, Marsha M.
- Blangero, John
- Levy, Bruce D.
- Sheu, Wayne Huey-Herng
- Roden, Dan M.
- Boerwinkle, Eric
- Manson, JoAnn E.
- Mathias, Rasika A.
- Desai, Pinkal
- Taylor, Kent D.
- Johnson, Andrew D.
- Abe, Namiko
- Albert, Christine
- Almasy, Laura
- Ament, Seth
- Anugu, Pramod
- Arking, Dan
- Avramopoulos, Dimitrios
- Barnard, John
- Barr, R. Graham
- Beck, Gerald
- Becker, Diane
- Beitelshees, Amber
- Benjamin, Emelia
- Bezerra, Marcos
- Bowler, Russell
- Brody, Jennifer
- Broeckel, Ulrich
- Bustamante, Carlos
- Carey, Vincent
- Carty, Cara
- Casaburi, Richard
- Casella, James
- Castaldi, Peter
- Chaffin, Mark
- Chang, Yi-Cheng
- Chasman, Daniel
- Chavan, Sameer
- Chen, Wei-Min
- Choi, Seung Hoan
- Chuang, Lee-Ming
- Chung, Mina
- Chung, Ren-Hua
- Clish, Clary
- Comhair, Suzy
- Crapo, James
- Curtis, Jeffrey
- Damcott, Coleen
- Das, Sayantan
- David, Sean
- DeBaun, Michael
- Deka, Ranjan
- DeMeo, Dawn
- Devine, Scott
- Duan, Qing
- Dutcher, Susan
- Eaton, Charles
- Ekunwe, Lynette
- Emery, Leslie
- Erzurum, Serpil
- Farber, Charles
- Flickinger, Matthew
- Franceschini, Nora
- Frazar, Chris
- Fullerton, Stephanie M.
- Gabriel, Stacey
- Gan, Weiniu
- Gao, Shanshan
- Gelb, Bruce
- Geraci, Mark
- Gerszten, Robert
- Ghosh, Auyon
- Gibbs, Richard
- Gladwin, Mark
- Glahn, David
- Gong, Da-Wei
- Graw, Sharon
- Gu, C. Charles
- Guan, Yue
- Gupta, Namrata
- Hall, Michael
- Harris, Daniel
- Hawley, Nicola L.
- Heavner, Ben
- Hernandez, Ryan
- Herrington, David
- Hersh, Craig
- Hidalgo, Bertha
- Hobbs, Brian
- Hokanson, John
- Hoth, Karin
- Hsiung, Chao
- Hung, Yi-Jen
- Jackson, Rebecca
- Jain, Deepti
- Jaquish, Cashell
- Kang, Hyun Min
- Kelly, Shannon
- Kessler, Michael
- Khan, Alyna
- Kim, Wonji
- Kramer, Holly
- Lange, Christoph
- LeBoff, Meryl
- Lee, Wen-Jane
- LeFaive, Jonathon
- Levine, David
- Lewis, Joshua
- Li, Xiaohui
- Li, Yun
- Lin, Henry
- Lin, Honghuang
- Lin, Xihong
- Liu, Simin
- Liu, Yu
- Lunetta, Kathryn
- Luo, James
- Mahaney, Michael
- Make, Barry
- Manichaikul, Ani
- Martin, Lisa
- Mathai, Susan
- May, Susanne
- McArdle, Patrick
- McDonald, Merry-Lynn
- McHugh, Caitlin
- Mei, Hao
- Mestroni, Luisa
- Minear, Mollie
- Minster, Ryan L.
- Montgomery, Courtney
- Mwasongwe, Stanford
- Mychaleckyj, Josyf C.
- Nadkarni, Girish
- Naik, Rakhi
- Naseri, Take
- Nekhai, Sergei
- Nelson, Sarah C.
- Nickerson, Deborah
- Paik, David
- Pankow, James
- Perez, Marco
- Perry, James
- Peters, Ulrike
- Phillips, Lawrence S.
- Pollin, Toni
- Post, Wendy
- Preuss, Michael
- Qiao, Dandi
- Qin, Zhaohui
- Ratan, Aakrosh
- Regan, Elizabeth
- Roselli, Carolina
- Ruczinski, Ingo
- Ruuska, Sarah
- Ryan, Kathleen
- Saleheen, Danish
- Salimi, Shabnam
- Salzberg, Steven
- Schmidt, Ellen
- Schwander, Karen
- Sciurba, Frank
- Seidman, Christine
- Seidman, Jonathan
- Sheehan, Vivien
- Sherman, Stephanie L.
- Shetty, Amol
- Shetty, Aniket
- Silver, Brian
- Smith, Tanja
- Snively, Beverly
- Snyder, Michael
- Sofer, Tamar
- Stilp, Adrienne M.
- Storm, Garrett
- Streeten, Elizabeth
- Szpiro, Adam
- Taliun, Daniel
- Tang, Hua
- Taylor, Matthew
- Taylor, Simeon
- Telen, Marilyn
- Thornton, Timothy A.
- Tirschwell, David
- Tishkoff, Sarah
- Vaidya, Dhananjay
- VandeHaar, Peter
- Vrieze, Scott
- Wallace, Robert
- Walts, Avram
- Wang, Heming
- Weir, Bruce
- Weng, Lu-Chen
- Wessel, Jennifer
- Willer, Cristen
- Williams, Kayleen
- Wilson, Carla
- Wu, Joseph
- Xu, Huichun
- Yanek, Lisa
- Zaghloul, Norann
- Zhang, Yingze
- Zhao, Wei
- Zhi, Degui
- Zhou, Xiang
- Zhu, Xiaofeng
- Zody, Michael
- Zoellner, Sebastian
- Auer, Paul L.
- Kooperberg, Charles
- Laurie, Cathy C.
- Blackwell, Thomas W.
- Smith, Albert V.
- Zhao, Hongyu
- Lange, Ethan
- Rich, Stephen S.
- Rotter, Jerome I.
- Scheet, Paul
- Kitzman, Jacob O.
- Lander, Eric S.
- Engreitz, Jesse M.
- Ebert, Benjamin L.
- Jaiswal, Siddhartha
- Abecasis, Gonçalo
- Sankaran, Vijay G.
- Kathiresan, Sekar
- Natarajan, Pradeep
- Venue
- Nature
- Published
- 2020-10-14
- Volume
- 586
- Issue
- 7831
- Pages
- 763-768
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC7944936
- OpenAlex
- W3093370683
- Cited by
- 733
- References
- 54
- Citations by year
- 2026: 101 · 2025: 142 · 2024: 149 · 2023: 115 · 2022: 124 · 2021: 97 · 2020: 5
- FWCI
- 54.00
- Type
- journal article
- Language
- en
- Update notices
- correction (2021-03-11)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- ScholarWorks @ UTRGV (The University of Texas Rio Grande Valley) (submittedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- American Heart Association (18SFRN34250007)
- National Institutes of Health (1r01hl120393-01a1, 5p50hl118006-05, DP5OD029586, 5k01hl135405-04, UL1TR001863, 5r01hl113323-05)
- National Institute on Aging (K01AG059898)
- National Heart, Lung, and Blood Institute (R03HL154284, R01-HL120393, K01-HL135405, R01HL148050, R01HL143818, K01HL136700, R35HL135818, HHSN268201800001C, R01-HL113323, P50-HL-118006, P01HL132825, UG3HL151865, U01HL130114, DP2HL157540, F30HL149180, R01HL149836, U01HL089856, R01HL091357, R01HL138737, U01HL137162, R01HL117626, K08HL141601, R01HL055673, UH3HL151865, T32HL129982, R01HL133040, R01HL148565, R01HL139731)
- National Human Genome Research Institute (UM1HG008895, R01HG009974)
- National Cancer Institute (R35CA253125)
- National Institute of General Medical Sciences (U54GM115428)
- National Institute of Allergy and Infectious Diseases (R01AI132476)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- clonal hematopoiesis of indeterminate potential, germline genetic variants, somatic mutations, hematopoietic stem cells, TET2, distal enhancers, aging, coronary artery disease, hematologic cancer, genetic susceptibility, TOPMed, African ancestry
- MeSH terms
- Cell Self Renewal, Tripartite Motif Proteins, Whole Genome Sequencing, Clonal Hematopoiesis, Adult, Africa, Aged, Aged, 80 and over, Black or African American, DNA-Binding Proteins, Female, Hematopoietic Stem Cells, Humans, Male, Middle Aged, Phenotype, Proto-Oncogene Proteins, United States, Genome, Human, Germ-Line Mutation, Genetic Predisposition to Disease, alpha Karyopherins, Black People, Intracellular Signaling Peptides and Proteins, Dioxygenases, National Heart, Lung, and Blood Institute (U.S.), Precision Medicine
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