{"entity": "researcher", "timestamp": "2026-07-20T22:07:28.215Z", "family": "Weinstock", "given": "Joshua S", "initials": "JS", "orcid": "0000-0001-7013-1899", "affiliations": ["Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.", "Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/2501ed5d8a4e43d488e7267e58ad68cd.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/2501ed5d8a4e43d488e7267e58ad68cd"}}, "publications": [{"entity": "publication", "iuid": "75a909d34d6845308290d0cc98b716b8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/75a909d34d6845308290d0cc98b716b8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/75a909d34d6845308290d0cc98b716b8"}}, "title": "A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets.", "authors": [{"family": "Vlasschaert", "given": "Caitlyn", "initials": "C"}, {"family": "Mack", "given": "Taralynn", "initials": "T", "orcid": "0000-0003-1043-2950", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b126c40c737b4b06a8702801ee227b04.json"}}, {"family": "Heimlich", "given": "J Brett", "initials": "JB", "orcid": "0000-0003-2812-5326", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/57e0bced1405484b94ce062052f498c0.json"}}, {"family": "Niroula", "given": "Abhishek", "initials": "A"}, {"family": "Uddin", "given": "Md Mesbah", "initials": "MM", "orcid": "0000-0003-1846-0411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/42f1ac7010c34ba997a3fd9e56c6a56a.json"}}, {"family": "Weinstock", "given": "Joshua", "initials": "J", "orcid": "0000-0001-7013-1899", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2501ed5d8a4e43d488e7267e58ad68cd.json"}}, {"family": "Sharber", "given": "Brian", "initials": "B"}, {"family": "Silver", "given": "Alexander J", "initials": "AJ", "orcid": "0000-0001-8255-3140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/207d0026e724498f86d32cfd69c78209.json"}}, {"family": "Xu", "given": "Yaomin", "initials": "Y", "orcid": "0000-0002-3752-4006", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7f974a0eac8b482696f97e7e579298ab.json"}}, {"family": "Savona", "given": "Michael", "initials": "M"}, {"family": "Gibson", "given": "Christopher", "initials": "C"}, {"family": "Lanktree", "given": "Matthew B", "initials": "MB", "orcid": "0000-0002-5750-6286", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0e941f0c76354792a451f2f5d8632e29.json"}}, {"family": "Rauh", "given": "Michael J", "initials": "MJ", "orcid": "0000-0002-8346-5537", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/908769b86132425e885a742ac04d3642.json"}}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL", "orcid": "0000-0003-0197-5451", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/56e4f1c53a4348e2b0ceb44a38850a17.json"}}, {"family": "Natarajan", "given": "Pradeep", "initials": "P", "orcid": "0000-0001-8402-7435", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe8bd48c61c047cd8e61c35d9e9ac650.json"}}, {"family": "Jaiswal", "given": "Siddhartha", "initials": "S", "orcid": "0000-0002-9597-0477", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a1901e08f989434fb01dfa17b0a85470.json"}}, {"family": "Bick", "given": "Alexander G", "initials": "AG"}], "type": "journal article", "published": "2023-05-04", "journal": {"title": "Blood", "issn": "1528-0020", "volume": "141", "issue": "18", "pages": "2214-2223", "issn-l": "0006-4971"}, "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 \u223c550 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.", "doi": "10.1182/blood.2022018825", "pmid": "36652671", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC10273159"}, {"db": "pii", "key": "S0006-4971(23)00143-X"}], "notes": [], "created": "2023-11-20T11:36:24.658Z", "modified": "2023-11-20T11:36:24.991Z"}, {"entity": "publication", "iuid": "ec7c5372a6954d0186cb4fa27ef713d9", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ec7c5372a6954d0186cb4fa27ef713d9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ec7c5372a6954d0186cb4fa27ef713d9"}}, "title": "Clonal haematopoiesis and risk of chronic liver disease.", "authors": [{"family": "Wong", "given": "Waihay J", "initials": "WJ", "orcid": "0000-0003-2023-6590", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3a4e1a5be5c54646ab5881bc338bf6cd.json"}}, {"family": "Emdin", "given": "Connor", "initials": "C"}, {"family": "Bick", "given": "Alexander G", "initials": "AG"}, {"family": "Zekavat", "given": "Seyedeh M", "initials": "SM", "orcid": "0000-0003-4026-8944", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6234b31f08e442a9b71a711ec7b1147a.json"}}, {"family": "Niroula", "given": "Abhishek", "initials": "A"}, {"family": "Pirruccello", "given": "James P", "initials": "JP", "orcid": "0000-0001-6088-4037", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/60d2e9f23cce41f5b1f40ce0f010e9d9.json"}}, {"family": "Dichtel", "given": "Laura", "initials": "L"}, {"family": "Griffin", "given": "Gabriel", "initials": "G"}, {"family": "Uddin", "given": "Md Mesbah", "initials": "MM", "orcid": "0000-0003-1846-0411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/42f1ac7010c34ba997a3fd9e56c6a56a.json"}}, {"family": "Gibson", "given": "Christopher J", "initials": "CJ", "orcid": "0000-0002-3700-5310", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71ce9f64755e483496f8c28a76a2a1ff.json"}}, {"family": "Kovalcik", "given": "Veronica", "initials": "V"}, {"family": "Lin", "given": "Amy E", "initials": "AE"}, {"family": "McConkey", "given": "Marie E", "initials": "ME"}, {"family": "Vromman", "given": "Amelie", "initials": "A", "orcid": "0000-0002-1724-2095", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c5297e9d22b24ac7beaab07f94c6d1f7.json"}}, {"family": "Sellar", "given": "Rob S", "initials": "RS"}, {"family": "Kim", "given": "Peter G", "initials": "PG", "orcid": "0000-0002-8716-8759", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bab07a767447416fa8e4004c6cbe7b7f.json"}}, {"family": "Agrawal", "given": "Mridul", "initials": "M"}, {"family": "Weinstock", "given": "Joshua", "initials": "J", "orcid": "0000-0001-7013-1899", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2501ed5d8a4e43d488e7267e58ad68cd.json"}}, {"family": "Long", "given": "Michelle T", "initials": "MT", "orcid": "0000-0001-6131-3981", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e3d2425beb9d4716a378684bbf3817f3.json"}}, {"family": "Yu", "given": "Bing", "initials": "B"}, {"family": "Banerjee", "given": "Rajarshi", "initials": "R"}, {"family": "Nicholls", "given": "Rowan C", "initials": "RC", "orcid": "0000-0002-3311-4974", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9861d98d104414aa96c7646418b04e7.json"}}, {"family": "Dennis", "given": "Andrea", "initials": "A"}, {"family": "Kelly", "given": "Matt", "initials": "M", "orcid": "0000-0002-5834-635X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e1f150673cd0427ea54c82ecadd62a15.json"}}, {"family": "Loh", "given": "Po-Ru", "initials": "PR", "orcid": "0000-0001-5542-9064", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ace35329adf34fc6a3ea3d31c880d5c2.json"}}, {"family": "McCarroll", "given": "Steve", "initials": "S", "orcid": "0000-0002-6954-8184", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bde6c6c1092647c090d29dae413b2073.json"}}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Vasan", "given": "Ramachandran S", "initials": "RS", "orcid": "0000-0001-7357-5970", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22de41f77ce541d09a9b04aa59de33f7.json"}}, {"family": "Jaiswal", "given": "Siddhartha", "initials": "S", "orcid": "0000-0002-9597-0477", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a1901e08f989434fb01dfa17b0a85470.json"}}, {"family": "Johnson", "given": "Andrew D", "initials": "AD", "orcid": "0000-0001-6369-5178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8b268f8da3f247ba90dc37ea73d93c2f.json"}}, {"family": "Chung", "given": "Raymond T", "initials": "RT"}, {"family": "Corey", "given": "Kathleen", "initials": "K"}, {"family": "Levy", "given": "Daniel", "initials": "D", "orcid": "0000-0003-1843-8724", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/57605ba755d44792ab87cf14114ec757.json"}}, {"family": "Ballantyne", "given": "Christie", "initials": "C", "orcid": "0000-0002-6432-1730", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/27dc5297c262410bad3bbb66a488d4b4.json"}}, {"family": "NHLBI TOPMed Hematology Working Group", "given": "", "initials": ""}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL", "orcid": "0000-0003-0197-5451", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/56e4f1c53a4348e2b0ceb44a38850a17.json"}}, {"family": "Natarajan", "given": "Pradeep", "initials": "P", "orcid": "0000-0001-8402-7435", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe8bd48c61c047cd8e61c35d9e9ac650.json"}}], "type": "journal article", "published": "2023-04-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "616", "issue": "7958", "pages": "747-754", "issn-l": "0028-0836"}, "abstract": "Chronic liver disease is a major public health burden worldwide1. Although different aetiologies and mechanisms of liver injury exist, progression of chronic liver disease follows a common pathway of liver inflammation, injury and fibrosis2. Here we examined the association between clonal haematopoiesis of indeterminate potential (CHIP) and chronic liver disease in 214,563 individuals from 4 independent cohorts with whole-exome sequencing data (Framingham Heart Study, Atherosclerosis Risk in Communities Study, UK Biobank and Mass General Brigham Biobank). CHIP was associated with an increased risk of prevalent and incident chronic liver disease (odds ratio = 2.01, 95% confidence interval (95% CI) [1.46, 2.79]; P < 0.001). Individuals with CHIP were more likely to demonstrate liver inflammation and fibrosis detectable by magnetic resonance imaging compared to those without CHIP (odds ratio = 1.74, 95% CI [1.16, 2.60]; P = 0.007). To assess potential causality, Mendelian randomization analyses showed that genetic predisposition to CHIP was associated with a greater risk of chronic liver disease (odds ratio = 2.37, 95% CI [1.57, 3.6]; P < 0.001). In a dietary model of non-alcoholic steatohepatitis, mice transplanted with Tet2-deficient haematopoietic cells demonstrated more severe liver inflammation and fibrosis. These effects were mediated by the NLRP3 inflammasome and increased levels of expression of downstream inflammatory cytokines in Tet2-deficient macrophages. In summary, clonal haematopoiesis is associated with an elevated risk of liver inflammation and chronic liver disease progression through an aberrant inflammatory response.", "doi": "10.1038/s41586-023-05857-4", "pmid": "37046084", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "mid", "key": "NIHMS1912281"}, {"db": "pmc", "key": "PMC10405350"}, {"db": "pii", "key": "10.1038/s41586-023-05857-4"}], "notes": [], "created": "2023-11-20T11:39:32.404Z", "modified": "2023-11-20T11:39:32.756Z"}, {"entity": "publication", "iuid": "5a4b7afcc7f14c88b78aa139fc346ea0", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/5a4b7afcc7f14c88b78aa139fc346ea0.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/5a4b7afcc7f14c88b78aa139fc346ea0"}}, "title": "Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.", "authors": [{"family": "Nakao", "given": "Tetsushi", "initials": "T", "orcid": "0000-0001-9979-2682", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7e818cd4544c41c2a7fa91dbce13429e.json"}}, {"family": "Bick", "given": "Alexander G", "initials": "AG", "orcid": "0000-0001-5824-9595", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d2da5a35a4984921b19dfafe64cea2de.json"}}, {"family": "Taub", "given": "Margaret A", "initials": "MA"}, {"family": "Zekavat", "given": "Seyedeh M", "initials": "SM", "orcid": "0000-0003-4026-8944", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6234b31f08e442a9b71a711ec7b1147a.json"}}, {"family": "Uddin", "given": "Md M", "initials": "MM", "orcid": "0000-0003-1846-0411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/42f1ac7010c34ba997a3fd9e56c6a56a.json"}}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Carty", "given": "Cara L", "initials": "CL", "orcid": "0000-0002-6378-8195", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3789c1f4b35343b8832a54e506b19954.json"}}, {"family": "Lane", "given": "John", "initials": "J", "orcid": "0000-0002-3582-5825", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a56ccef0077d486690b22ca5cea4e464.json"}}, {"family": "Honigberg", "given": "Michael C", "initials": "MC", "orcid": "0000-0001-8630-5021", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c541cd0864c947a6bafa7ad6e78bfe49.json"}}, {"family": "Weinstock", "given": "Joshua S", "initials": "JS", "orcid": "0000-0001-7013-1899", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2501ed5d8a4e43d488e7267e58ad68cd.json"}}, {"family": "Pampana", "given": "Akhil", "initials": "A", "orcid": "0000-0002-4167-0540", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8eda05c6691439087b83578698feca8.json"}}, {"family": "Gibson", "given": "Christopher J", "initials": "CJ"}, {"family": "Griffin", "given": "Gabriel K", "initials": "GK", "orcid": "0000-0002-4042-6757", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f6153204e19d4660b640dc4467605973.json"}}, {"family": "Clarke", "given": "Shoa L", "initials": "SL", "orcid": "0000-0002-6592-1172", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1426d473ffdf48628b11b16b61b3a1f9.json"}}, {"family": "Bhattacharya", "given": "Romit", "initials": "R", "orcid": "0000-0002-0782-4753", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/adea681afe7c431c91b30900a92baf8f.json"}}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL", "orcid": "0000-0003-2349-0009", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/610f47c94b0c4fe2bb2da6921aa8a1ef.json"}}, {"family": "Emery", "given": "Leslie S", "initials": "LS", "orcid": "0000-0002-9070-9886", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f4d732d00ca14a65a7811f5fd4e33a71.json"}}, {"family": "Stilp", "given": "Adrienne M", "initials": "AM", "orcid": "0000-0002-3910-0776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/db1b4c9d2a4146d3bbf1ee8dfa95ff3f.json"}}, {"family": "Wong", "given": "Quenna", "initials": "Q", "orcid": "0000-0002-9027-2100", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0bc6b19b3fe24df2829580529550459a.json"}}, {"family": "Broome", "given": "Jai", "initials": "J", "orcid": "0000-0001-7638-0749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72c4ec70401f487bba233a52a24954e3.json"}}, {"family": "Laurie", "given": "Cecelia A", "initials": "CA"}, {"family": "Khan", "given": "Alyna T", "initials": "AT", "orcid": "0000-0002-2240-7931", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c970cb08274483d90ffb50d6f53f9a5.json"}}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51752e0d35a74befa66a65b95ceaad38.json"}}, {"family": "Blackwell", "given": "Thomas W", "initials": "TW"}, {"family": "Codd", "given": "Veryan", "initials": "V", "orcid": "0000-0002-9430-8254", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee072ff53ab64e8886fef03708a280f8.json"}}, {"family": "Nelson", "given": "Christopher P", "initials": "CP", 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{"family": "He", "given": "Jiang", "initials": "J", "orcid": "0000-0002-8286-9652", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5e25be91780b4e49a8d582cb7ba609b8.json"}}, {"family": "Post", "given": "Wendy", "initials": "W", "orcid": "0000-0002-8655-5204", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8f908e31bf344ee80d308b22c3a42fb.json"}}, {"family": "Arnett", "given": "Donna K", "initials": "DK", "orcid": "0000-0003-2219-657X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0c5fb80d13ae47648fa86a2a9806bf7b.json"}}, {"family": "Vasan", "given": "Ramachandran S", "initials": "RS", "orcid": "0000-0001-7357-5970", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22de41f77ce541d09a9b04aa59de33f7.json"}}, {"family": "Darbar", "given": "Dawood", "initials": "D"}, {"family": "Weiss", "given": "Scott T", "initials": "ST", "orcid": "0000-0001-7196-303X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/17b60deba56f44febb39edaa22fc1894.json"}}, {"family": "McGarvey", "given": "Stephen T", "initials": "ST", "orcid": "0000-0003-1233-6970", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1e92508e33a441baafbf937bd8e0421c.json"}}, {"family": "de Andrade", "given": "Mariza", "initials": "M"}, {"family": "Chen", "given": "Yii-Der Ida", "initials": "YI"}, {"family": "Kaplan", "given": "Robert C", "initials": "RC"}, {"family": "Meyers", "given": "Deborah A", "initials": "DA"}, {"family": "Custer", "given": "Brian S", "initials": "BS", "orcid": "0000-0001-6251-366X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2300f59ef8f14c1dab4454ddb90bde7e.json"}}, {"family": "Correa", "given": "Adolfo", "initials": "A", "orcid": "0000-0002-9501-600X", "researcher": {"href": 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"0000-0001-7191-1723", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50edc25b80cc48b699db367e372fded5.json"}}, {"family": "Silverman", "given": "Edwin K", "initials": "EK", "orcid": "0000-0002-3641-3822", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eae150f63bd942b99f59c80d027efcdf.json"}}, {"family": "Kooperberg", "given": "Charles", "initials": "C", "orcid": "0000-0002-7986-8560", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8fbc0fa2df5467ca8c6e65def4485cd.json"}}, {"family": "Danesh", "given": "John", "initials": "J"}, {"family": "Samani", "given": "Nilesh J", "initials": "NJ", "orcid": "0000-0002-3286-8133", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/62ae9a82759c428b9dcf75113e60adce.json"}}, {"family": "Jaiswal", "given": "Siddhartha", "initials": "S", "orcid": "0000-0002-9597-0477", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a1901e08f989434fb01dfa17b0a85470.json"}}, {"family": "Libby", "given": "Peter", "initials": "P", "orcid": "0000-0002-1502-502X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/39fb20acff0442bd92fc7931d3ee6cf9.json"}}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.json"}}, {"family": "Pankratz", "given": "Nathan", "initials": "N", "orcid": "0000-0001-5958-693X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ad5e6b749b264d1e83ea58d5bce6c88e.json"}}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL", "orcid": "0000-0003-0197-5451", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/56e4f1c53a4348e2b0ceb44a38850a17.json"}}, {"family": "Reiner", "given": "Alexander P", "initials": "AP"}, {"family": "Mathias", "given": "Rasika A", "initials": "RA", "orcid": "0000-0002-2282-9042", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71dfe469451f4573bcccc96f981f7915.json"}}, {"family": "Do", "given": "Ron", "initials": "R", "orcid": "0000-0002-3144-3627", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ab0c452994042219ca6120d45e72604.json"}}, {"family": "NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium", "given": "", "initials": ""}, {"family": "Natarajan", "given": "Pradeep", "initials": "P", "orcid": "0000-0001-8402-7435", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe8bd48c61c047cd8e61c35d9e9ac650.json"}}], "type": "journal article", "published": "2022-04-08", "journal": {"title": "Sci Adv", "issn": "2375-2548", "volume": "8", "issue": "14", "pages": "eabl6579", "issn-l": "2375-2548"}, "abstract": "Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion of hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy and CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus for CHIP in genome-wide association studies. Here, we investigated the relationship between CHIP, LTL, and CAD in the Trans-Omics for Precision Medicine (TOPMed) program (n = 63,302) and UK Biobank (n = 47,080). Bidirectional Mendelian randomization studies were consistent with longer genetically imputed LTL increasing propensity to develop CHIP, but CHIP then, in turn, hastens to shorten measured LTL (mLTL). We also demonstrated evidence of modest mediation between CHIP and CAD by mLTL. Our data promote an understanding of potential causal relationships across CHIP and LTL toward prevention of CAD.", "doi": "10.1126/sciadv.abl6579", "pmid": "35385311", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC8986098"}], "notes": [], "created": "2023-11-20T11:36:14.966Z", "modified": "2023-11-20T11:36:17.765Z"}, {"entity": "publication", "iuid": "13022802a88f46d2ab340d4ad21ad8c8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/13022802a88f46d2ab340d4ad21ad8c8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/13022802a88f46d2ab340d4ad21ad8c8"}}, "title": "Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.", "authors": [{"family": "Bick", "given": "Alexander G", "initials": "AG"}, {"family": "Weinstock", "given": "Joshua S", "initials": "JS", "orcid": "0000-0001-7013-1899", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2501ed5d8a4e43d488e7267e58ad68cd.json"}}, {"family": "Nandakumar", "given": "Satish K", "initials": "SK"}, {"family": "Fulco", "given": "Charles P", "initials": "CP", "orcid": "0000-0002-6592-1279", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a88d6f1a1767499e94942a47930ba21e.json"}}, {"family": "Bao", "given": "Erik L", "initials": "EL", "orcid": "0000-0002-6074-6766", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b5eac9b5ee541258aea4146fcbb7d49.json"}}, {"family": "Zekavat", "given": "Seyedeh M", "initials": "SM"}, {"family": "Szeto", "given": "Mindy D", "initials": "MD", "orcid": "0000-0003-3642-3753", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c00a24090c674f2899267e4c3188b5da.json"}}, {"family": "Liao", "given": "Xiaotian", "initials": "X", "orcid": "0000-0002-9715-270X", "researcher": {"href": 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