Cardiovascular disease (CVD) has a complex etiology, and CVD patients show a wide range of responses to therapeutic interventions. Dr. Johnson’s laboratory research focuses on understanding genetic and genomic underpinnings of this individual variability in therapeutically targeted CVD pathways. In particular, his work focuses on understanding individual variability in platelet development, function, and response to treatment. Drugs that decrease platelet reactivity, such as aspirin, are commonly used to reduce the risks of cardiovascular events such as myocardial infarction. Dr. Johnson is interested in the pharmacogenetics of anti-platelet treatments and resulting CVD outcomes. His laboratory applies population-scale approaches to the problem including genetic studies, collaboration with clinician-scientists, studies of gene expression variability in human tissues, and bioinformatics and systems biology approaches. His group makes particular use of the Framingham Heart Study and the rich amount of epidemiologic and genetic data it has accumulated over the years.
Additionally, the Johnson laboratory creates and applies cutting edge genomic and bioinformatics resources. In addition to advancing the goals of his research group and others at the NHLBI, these resources are be made freely available to benefit the wider scientific community, and help advance our understanding of CVD variability. To date these resources include SNAP (SNP Annotation and Proxy Search: http://www.broadinstitute.org/mpg/snap/), a fast human linkage disequilibrium query and annotation interface for worldwide population genetic samples, retired around 2016 with >4 million uses and >1,350 academic citations; GRASP (Genome-wide Repository of Associations between SNPs and Phenotypes), one of the largest and deepest databases of human genetic associations with >750 academic citations; and the COVID-19 public GWAS portal (Thibord et al., 2022).
Andrew Johnson earned a B.S. in vertebrate physiology from the Pennsylvania State University in 1998. He subsequently worked on gene regulatory research in C. elegans and neuroelectrophysiology in rodents before entering graduate school in 2003. He earned a Ph.D. in biomedical sciences from Ohio State University in 2007 with dual emphases in bioinformatics and pharmacogenomics. He came to the NIH for post-doctoral training in 2007, became a tenure track investigator in 2012 and was promoted to a tenured Senior Investigator in 2019. Dr. Johnson has been nominated for and received numerous awards including the NHLBI Lenfant Fellowship, the NHLBI Orloff Science Award, the CHARGE Consortium Early Career Investigator Award and Genome Technology’s Young Investigator Award, and was elected as a Fellow of the American Heart Association. He has published more than 210 papers and has served as a reviewer for more than 65 journals. His full publication record is found on NCBI. Dr. Johnson has served on numerous committees of the Framingham Heart Study, the American Heart Association, and the International Society for Thrombosis and Haemostasis. He currently chairs the NHLBI TOPMed Hematology and Hemostasis Working Group and the Framingham Heart Study Genetic Steering Committee. He is also a member of the American Society for Human Genetics, the International Society for Computational Biology and the International Society for Thrombosis and Haemostasis.
- Keramati AR, Chen MH, Rodriguez BAT, Yanek LR, Bhan A, Gaynor BJ, Ryan K, Brody JA, Zhong X, Wei Q, NHLBI Trans-Omics for Precision (TOPMed) Consortium., Kammers K, Kanchan K, Iyer K, Kowalski MH, Pitsillides AN, Cupples LA, Li B, Schlaeger TM, Shuldiner AR, O'Connell JR, Ruczinski I, Mitchell BD, Faraday N, Taub MA, Becker LC, Lewis JP, Mathias RA, Johnson AD. Genome sequencing unveils a regulatory landscape of platelet reactivity. Nat Commun. 2021;12(1):3626.
- Rodriguez BAT, Bhan A, Beswick A, Elwood PC, Niiranen TJ, Salomaa V, FinnGen Study., Trégouët DA, Morange PE, Civelek M, Ben-Shlomo Y, Schlaeger T, Chen MH, Johnson AD. A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling. Am J Hum Genet. 2020;107(2):211-221.
- Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB, VA Million Veteran Program., Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020;182(5):1198-1213.e14.
- Puurunen MK, Hwang SJ, Larson MG, Vasan RS, O'Donnell CJ, Tofler G, Johnson AD. ADP Platelet Hyperreactivity Predicts Cardiovascular Disease in the FHS (Framingham Heart Study). J Am Heart Assoc. 2018;7(5).
- Eicher JD, Wakabayashi Y, Vitseva O, Esa N, Yang Y, Zhu J, Freedman JE, McManus DD, Johnson AD. Characterization of the platelet transcriptome by RNA sequencing in patients with acute myocardial infarction. Platelets. 2016;27(3):230-9.
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Genetics and Genomics
This page was last updated on Thursday, February 9, 2023