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Home Profiles Xiuqing Guo, PhD

Investigator, Translational Genomics
Professor of Pediatrics, David Geffen School of Medicine at UCLA
Senior Director, Laboratory of Statistical and Mathematical Genetics

Xiuqing Guo, PhD

Research Areas

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Research

Dr. Guo’s research interests span methodological development to address fundamental mathematical and biostatistical problems, statistical approaches to gene mapping for complex diseases, and the analysis of genetic epidemiologic data for common, genetically complex conditions, with a primary focus on cardiovascular and metabolic diseases. With the rapid advancement of molecular techniques, she has been motivated to develop improved statistical methods and apply them to uncover the underlying genetic factors contributing to these diseases. Her work emphasizes the genetics of hypertension and blood pressure variation, including epigenomic approaches, as well as the genetics of insulin resistance, atherosclerosis, and EKG traits.

Biography

Dr. Xiuqing Guo plays a leading role in statistical analyses for multiple large-scale research initiatives. At The Lundquist Institute at Harbor-UCLA (formerly LA BioMed), she has led statistical analyses for Hispanic cohorts, including the MACAD (Mexican-American Coronary Artery Disease), HTN-IR (Mexican-American Hypertension and Insulin Resistance), and GOLDR (Genetics of Latino Diabetic Retinopathy) studies, as well as the IRAS (Insulin Resistance and Atherosclerosis) Family Study. She serves as the lead analyst for all MESA (Multi-Ethnic Study of Atherosclerosis) analyses at the institute, overseeing work for MESA SHARe GWAS groups on blood pressure, diabetes and metabolic syndrome, adiposity, EKG traits, and hemostatic factors. Her expertise extends to MESA expression, methylation, metabolomics, and other omics data through the MESA Epigenomics and TOPMed Multi-Omics projects.

Dr. Guo participates in numerous international GWAS consortia, including CHARGE (Cohorts for Heart & Aging Research in Genomic Epidemiology), ICBP, Global Lipids, MAGIC (Meta-Analysis of Glucose and Insulin Traits Consortium), GIANT, and DIAMANTE (Diabetes Meta-Analysis Trans-Ethnic). She serves as the lead analyst for the Lundquist Institute site of the GUARDIAN (Genetics Underlying Diabetes in Hispanics) GWAS study—the largest investigation of insulin resistance in Hispanics—and has led Exome Chip analyses for five MESA genetic working groups. She has also led analytic efforts using Metabochip and GWAS data for the TAICHI (Taiwan Metabochip Study) Consortium and serves as co-convener and lead analyst for the Genetics of Hispanic Blood Pressure (GHBP) Consortium.

In the TOPMed (Trans-Omics in Precision Medicine) Consortium, Dr. Guo contributes to working groups on blood pressure/hypertension, diabetes/glycemia, and hemostatic traits, and represents MESA on the TOPMed Analysis Committee. She is the lead MESA analyst for the CHARGE Gene-Lifestyle project, which integrates GWAS and lifestyle factors such as smoking and blood pressure across all MESA ethnic groups. As the lead institutional analyst for the MESA TOPMed Multi-Omics project, she oversees large-scale analyses of transcriptomics, methylomics, metabolomics, and proteomics data, including multiple time points over a decade. She brings extensive expertise in genetic epidemiology, large-scale genotyping and sequencing, and epigenetics to her collaborative research and to the proposed study.

Publications
Diabetes Mellitus (Includes Type 1 DM, Type 2DM, Insulin Resistance, Insulin Secretion, Insulin Clearance, Fasting Glucose, Fasting Insulin, HgbA1C, and Diabetic Nephropathy)
  1. Zhao, W., Rasheed, A., Takkanen, E….. Guo, X… Taylor, K.D… Tai, E.S., Rotter, J.I., Chen, Y.-D.I….. Danesh, J., Voight, B., Saleheen, D.: Seventeen novel loci associated with type 2 diabetes and shared etiological pathways with coronary heart disease, Nature Genetics, 49(10):1450-1457, October, 2017. (e- published 9/4/2017, doi:10.1038/ng.3943) PMID: 28869590 PMCID: 5844224 
  2. Mahajan, A., Talium, D., Thurner, M….. Guo, X… Taylor, K.D… Meigs, J.B., Rotter, J.I., Marchini, J….. Morris, A.P., Boehnke, M., McCarthy, M.I.: Fine-mapping of an expanded set of type 2 diabetes loci to single- variant resolution using high-density imputation and islet-specific epigenome maps, Nature Genetics, 50(11):1505-1513, November, 2018. (e-published 10/8/2018, doi:10.1038/s41588- 018-0241-6) PMID: 30297969 PMCID: 6287706 
  3. Goodarzi, M.O., Palmer, N.D., Cui, J….. Guo, X., Chen, Y.-D.I., Taylor, K.D… Buchanan, T.A., Hsueh, W.A., Rotter, J.I.: Classification of type 2 diabetes genetic variants and a novel genetic risk score association with insulin clearance, Journal of Clinical Endocrinology and Metabolism, 105(4):1251-1260, April 1, 2020. (e-published 11/12/2019, doi:10.1210/clinem/dgz198) PMID: 31714576 PMCID: 7059988
  4. Chen, J., Spracklen, C.N., Marenne, G….. Rich, S.S… Taylor, K.D… Chen, Y.-D.I… Goodarzi, M.O… Guo, X… Zonderman, A.B., Rotter, J.I., Gloyn, A.L….. Wheeler, E., Morris, A.P., Barroso, I.: The trans-ancestral genomic architecture of glycaemic traits, Nature Genetics, 53(6):840-860, June, 2021. (e-published 5/31/2021, doi:10.1038/s41588-021-00852-9) PMID: 34059833 PMCID: 7610958 
  5. DeCorpo, D., LeClair, J., Cole, J.B….. Chen, Y.-D.I… Guo, X… Goodarzi, M.O… Florez, J.C., Rotter, J.I., Meigs, J.B., Dupuis, J., Udler, M.S.: Type 2 diabetes partitioned polygenic scores associated with disease outcomes in 454,193 individuals across 13 cohorts, Diabetes Care, 45(3):674-683, March 1, 2022. (e-published 1/27/2022, doi:10.2337/dc21-1395) PMID: 35085396 PMCID: 8918228
  6. Chen, Z.-Z., Pacheco, J.A., Gao, Y….. Guo, X… Taylor, K.D., Rich, S.S., Goodarzi, M.O., Rotter, J.I., Wilson, J., Clish, C., Gerszten, R.: Novel metabolite biomarkers of incident diabetes in African Americans revealed by the integration of nontargeted with targeted profiling, Diabetes, 71(11):2426-2437, November 1, 2022. (e-published 8/23/2022, doi:10.2337/db22-0033) PMID: 35998269 PMCID: 9630088
  7. Suzuki,K., Hatzikotoulas, K., Southam, L… Guo, X… Sofer, T…  Taylor, K.D… Ipp, E…. Chen, Y.-D.I., Rich, S.S… Goodarzi, M.O… Boehnke, M., Rotter, J.I., Vujkovic, M., Voight, B.F., Morris, A.P., Zeggini, E.: Genetic drivers of heterogeneity in type 2 diabetes pathophysiology, Nature, 627(8003):347-357, March, 14, 2024. (doi:10.1101/2023-03-31.23287839) PMID: 38374256 PMCID: 10937372
  8. Ding, J., Nguyen, A.T., Lohman, K… Pankow, J.S., Rotter, J., Goodarzi, M.O… Rich, S.S… Jacobs Jr., D., Parks, J.S., Liu, Y.: LXR signaling pathway link cholesterol metabolism with risk for prediabetes and diabetes, Journal of Clinical Investigation, 134(10):e173278, May 15, 2024. (doi:10.1172/JCI173278) PMID: 38747290 PMCID: 11093600
  9. Li,Y., Chen, G.-C., Moon, J.-Y… Rotter, J.I., Taylor, K.D., Chen, Y.-D.I… Kaufman, J.D., Kaplan, R., Qi, Q.: Genetic subtypes of prediabetes, healthy lifestyle, and risk of type 2 diabetes, Diabetes, 73(7):1178-1187, July 1, 2024. (e-published 4/11/2024, doi: 10.2337/db23-0699) PMID: 38602922 PMCID: 11189833
  10. Sevilla-González, M., Smith, K., Wang, N… Goodarzi, M.O., Sladek, R., Rotter, J.I… Raghavan, S., Udler, M.S., Manning, A.K.: Heterogeneous effects of genetic variants and traits associated with fasting insulin on cardiometabolic outcomes, Nature Communications, 16(1):2569, March 15, 2025. (doi:10.1038/s41467-025-57452-7) PMID: 40089507
Cardiovascular Disease (Includes CAD, Subclinical Atherosclerosis, Stroke, and Valvular Disease)
  1. Smith, J.G., Luk, K., Schulz, C.-A….. Budoff, M.J., Rotter, J.I., Cupples, L.A…Rich, S.S… Gudnason, V., O’Donnell, C.J., Post, W.S., Thanassoulis, G. for the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Extracoronary Calcium Working Group: Genetic elevated low- density lipoprotein cholesterol is associated with aortic valve calcification and incident aortic stenosis, Journal of the American Medical Association, 312(17):1764-1771, November 5, 2014. (e-published 10/26/2014, doi:10.1001/jama.2014.13959) PMID: 25344734 PMCID: 4280258 
  2. Dewey, F.E., Gusarova, V., Dunbar, R.L…. Guo, X., Rotter, J.I., Chen, Y.-D.I… Mellis, S.J., Gromada, J., Baras, A.: Genetic and pharmacologic inactivation of ANGPTL3 and atherosclerotic cardiovascular disease, New England Journal of Medicine, 377(3):211, July 20, 2017. (e- published 5/24/2017, doi:10.1056/NEJMoa1612790) PMID: 28538136 PMCID: 5800308 
  3. Khera, A.V., Chaffin, M., Zekavat, S.M… Taylor, K.D… Rich, S.S… Chen, Y.D.I… Talkowski, M.E., Rotter,J.I., Krumholz, H.M., Kathiresan, S.: Whole genome sequencing to characterize monogenic and polygenic contribution in patients hospitalized with early-onset myocardial infarction, Circulation, 139(13):1593-1602, March 26, 2019. (e-published 11/11/2018, doi:10.1161/CIRCULATIONAHA.118.035658) PMID: 30586733 PMCID: 6433484 
  4. Goodarzi, M.O., Rotter, J.I.: Genetic insights in the relationship between type 2 diabetes and coronary heart disease, Circulation Research, 126(11):1526-1548, May 22, 2020. (e-published 5/21/2020, doi:10.1161/CIRCRESAHA.119.316065) PMID: 32437307 PMCID: 7250006
  5. Fahed,A.C., Aragam, K.G., Hindy, G….. Chen, Y.-D.I… Rich, S.S., Rotter, J.I., Chowdhury, R….. Ellinor,P.T., Kathiresan, S., Khera, A.V.: Transethnic transferability of a genome-wide polygenic score for coronary artery disease – a multi-ancestry assessment, Circulation: Genomic and Precision Medicine, 14(1):e003092, February, 2021. (e-published 12/7/2020, doi:10.1161/CIRCGEN.120.003092) PMID: 33284643 PMCID: 7887053
  6. Al Rifai, M., Yao, J., Guo, X….. Budoff, M., Taylor, K.D., Lin, H.J., Rich, S.S… Greenland, P., Rotter, J.I., Virani, S.S.: Association of polygenic risk scores with incident atherosclerotic cardiovascular disease events among individuals with coronary artery calcium score of zero: The Multi-Ethnic Study of Atherosclerosis, Progress in Cardiovascular Diseases, 74:19-27, Sep-Oct, 2022. (e-published 8/8/2022, doi:10.1016/j.pcad.2022.08.003) PMID: 35952728 PMCID: 10240572
  7. Chen, H.Y., Dina, C., Small, A.M…… Budoff, M.J… Post, W.S., Rotter, J.I., Lathrop, M….. Clarke, R., Engert, J.C., Thanassoulis, G.: Genome-wide analyses highlight the roles of dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis, European Heart Journal, 44(21):1927-1939, June 1, 2023. (e-published 4/11/2023, doi;10.1093/eurheartj/ehad142) PMID: 37038246 PMCID: 10232274
  8. Kahn, S.S., Post, W.S., Guo, X….. Budoff, M.J… Mosley, J.D., Rotter, J.I., Greenland, P., Kavousi, M.: Coronary artery calcium score and polygenic risk score for the prediction of coronary heart disease event in the Multi-Ethnic Study of Atherosclerosis and the Rotterdam Study, Journal of the American Medical Association, 329(20):1768-1777, May 23, 2023. (doi:10.1001/jama.2023.7575) PMID: 37219552 PMCID: 1028141
  9. Kwak, S.H., Hernandez-Cancela, R.B., DiCorpo, D.A… Guo, X…. Chen, Y.-D.I., Taylor, K.D… Rich, S.S., Goodarzi, M.O… Liu, C.-T., Rotter, J.I., Meigs, J.B., on behalf of the Cohorts for Heart & Aging Research in Genomic Epidemiology (CHARGE) consortium: Time-to-event genome-wide association study for incident cardiovascular disease in people with type 2 diabetes mellitus, Diabetes Care, 47(6):1042-1047, June 1, 2024. (e-published 4/23/2024, doi:10.2337/dc23-2274) PMID: 38652672 PMCID: 11116923 
  10. Taylor, K.D., Wood, A.C., Guo, X., Herrington, D.M., Johnson, W.C., Post, W.S., Tracy, R.P., Rich, S.S., Rotter, J.I., Malik, S.: Metagenomics of cardiovascular events: The Multi-Ethnic Study of Atherosclerosis, Journal of the American Heart Association, 13(19):e035693, October, 2024. (e-published 9/30/2024) PMID: 39344648
Ocular Disorders (Includes Diabetic Retinopathy, Keratoconus, Macular Degeneration, Glaucoma, and Retinal Vasculature)
  1. Taylor, K.D., Guo, X., Zangwill, L.M….. Chen, Y.D., Ayyagari, R., Rotter, J.I., Weinreb, R.N. for the ADAGES III Genomics Study Group: Genetic architecture of POAG in individuals of African descent: The African Descent & Glaucoma Evaluation Study (ADAGES) III, Opthalmology, 126(1):38-48, 2019. (e-published 10/20/2018, doi:10.1016/j.ophtha.2018.10.031) PMID: 30352225 PMCID: 6309605
  2. Hauser, M.A., Allingham, R.R., Aung, T….. Taylor, K.D., Rotter, J.I., Wang, S.-H.J..… Chen, Y.-D.I… Guo, X… Koch, A.E.A., Fingert, J.H., Khor, C.C.: APBB2 is significant risk locus for primary open angle glaucoma in individuals of African ancestry, Journal of the American Medical Association, 322(17):1682-1691, November 5, 2019. (doi:10.1001/JAMA.2019.16161) PMID: 31688885 PMCID: 6865235
  3. Hardcastle, A.J., Liskova, P., Bykhovskaya, Y….. Li, X… Chen, Y.-D.I… Taylor, K.D… Wang, J.J., Rotter, J.I., Hewitt, A.W….. Hammond, C.J., Tuft, S.J., Hysi, P.G.: A multi-ethnic genome-wide association study for keratoconus identifies 36 loci and implicates collagen matrix integrity and cell differentiation pathways, Communications Biology, 4(1):266, March 1, 2021. (doi:10.1038/s42003-021-01784-0) PMID: 33649486 PMCID: 7921564
  4. Li,X., Owen, L.A., Taylor, K.D… Chen, Y.-D.I… Guo, X., Eli Ipp… Chiang, M.F., Campbell, J.P., Rotter, J.I. on behalf of the i-ROP Consortium: Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort, Communications Biology, 7(1):107, January 17, 2024. (doi:10.1038/s42003-023-05743-9) PMID: 38233474 PMCID: 10794688
  5. Au, A., Bajar, B.T., Wong, B.M., Daskivich, L.P., Hosseini, H., Prasad, P.S.: Systemic and ocular outcomes in patients with young-onset type 2 diabetes, Journal of Diabetes and Its Complications, 2024, 38(2):108670, 2024. PMID: 38219336
Lipids
  1. Do, R., Willer, C.J., Schmidt, E.M..… Goodarzi, M.O… Chen, Y.-D.I… Rotter, J.I., Franks, P.W., Ripatti, S., Cupples, L.A., Sandhu, M.S., Rich, S.S., Boehnke, M., Deloukas, P., Mohlke, K.L., Ingelsson, E., Abecasis, G.R., Daly, M.J., Neale, B., Kathiresan, S.: Common variants associated with plasma triglycerides and risk for coronary artery disease, Nature Genetics, 45(11):1345-1352, November, 2013. (e-published 10/6/2013; doi: 10.1038ng.2795) PMID: 24097064 PMCID: 3904346  
  2. Li, X., Li, Z., Zhou, H….. Guo, X… Rich, S.S… NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium Lipids Working Group, Rotter, J.I., Willer, C., Peloso, G.M., Natarajan, P., Lin, X.: Dynamic incorporation of multiple-in-silico functional annotations empowers rare variant association analysis in large- scale whole genome sequencing studies, Nature Genetics, 52(9):969-983, September, 2020. (e- published 8/24/2020, doi:10.1038/s4158-020-0676-4) PMID: 32839606 PMCID: 7483769 
  3. Graham, S.E., Clarke, S.l., Wu, K.-H…..  Li, X… Chen, Y.-D.I… Guo, X… Poulter, N., Rotter, J.I., Dantoft, T.M….. Deloukas, P., Sun, Y.V., Willer, C.:  The power of genetic diversity in genome-wide association studies of lipids, Nature, 600(7890):675-679, December 9, 2021. (doi:10.1038/s41586-021-04064-3) PMID: 34887591 PMCID: 8730582 
  4. Selvaraj, M.S., Li, X., Li, Z…… Guo, X… Li, X… Taylor, K.D… Chen, Y.-D.I… Rich, S.S., Willer, C., Rotter, J.I., Rader, D.J….. TOPMed Lipids Working Group, Peloso, G.M., Natarajan, P.: Whole genome sequencing analysis of blood lipid levels in >66,000 individuals, Nature Communications, 13(1):5995, October 11, 2022. (doi:10.1038/s41467-022-33510-7) PMID: 36220816 PMCID: 9553944
  5. Lee, M.P., Dimos, S., Raffield, L….. Guo, X… Rich, S.S… Tsai, M.Y., Rotter, J.I., Kooperberg, C….. Ballantyne, C.M., Avery, C.L., Raff, M.: Ancestral diversity in lipoprotein(a) studies help address evidence gaps, Open Heart Journal, 10(2):3002382, August, 2023. (doi:10.1136/openhrt-2023-002382) PMID: 37648373 PMCID: 10471864
Blood Pressure and Hypertension 
  1. Evangelou, E., Warren, H.R., Mosen-Ansorena, D….. Rose, L.M., Rotter, J.I., Rudan, I….. Guo, X… Wain, L.V., Elliott, P., Caufield, M.J.: Genetic analysis over one million people identifies 535 novel loci for blood pressure, Nature Genetics, 50(10):1412-1425, October, 2018. (e-published 9/17/2018, doi:10.1038/s41588-018-0205-x) PMID: 30224653 PMCID: 6284793 
  2. Parcha, V., Pampana, A., Shetty, N.S..… Lin, H.J., Guo, X., Rich, S.S., Rotter, J.I., Li, P., Oparil, S., Arora, G., Arora, P.: Association of multi-ethnic genome-wide blood pressure polygenic risk score with adverse cardiovascular events, Circulation: Genomic and Precision Medicine, 15(6):e003946, December, 2022. (e-published 11/5/2022, doi:10.1161/CIRCGEN.122.003946) PMID: 36334310 PMCID: 9812363
  3. Kurniansyah, N., Goodman, M.O., Khan, A.T….. Guo, X… Lin, H.J… Chen, Y.-D.I… Rich, S.S… Levy, D., Rotter, J.I., Morrison, A.C., the NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium, Sofer, T.: Evaluating the use of blood pressure polygenic risk scores based on largest available GWAS across diversity background groups, Nature Communications, 14(1):3202, June 2, 2023. (doi:10.1038/s41467-023-38990-9) PMID: 37268629 PMCID: 10238525
  4. Keaton, J.M., Kamali, Z., Xie, T…. Rich, S.S… Lu, Y., Rotter, J.I., Guo, X… Munroe, P.B., Snieder, H., Warren, H.R. on behalf of the Million Veterans Program, Lifelines Cohort Study, CHARGE Consortium, and the ICBP Consortium: Genome-wide analysis of over 1 million individuals reveals over 2,000 independent genetic signals for blood pressure, Nature Genetics, 56(5):778-791, May, 2024. (e-published 4/30/2024, doi:10.1038/s41588-024-01714-2) PMID: 38689001 PMCID: 11096100
  5. Nagarajan, Nagarajan, P., Winkler, T., Bentley, A.… Chen, Y.-D.I… Lin, H.J., Liu, P.Y… Rich, S.S… Sofer, T… Rotter, J.I… van Heemst, D., Redline, S., Noordam, R.: A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations, Molecular Psychiatry, in press, 2025. (e-published 4/4/2025, doi:10.1038/s41380-025-02954-w) PMID: 40181193
EKG and Arrhythmias (Includes Atrial Fibrillation and Sudden Cardiac Death)
  1. Roselli,C., Chaffin, M.D., Weng, L.-C….. Chen, Y.-D.I… Guo, X… Lin, H.J… Rost, N., Rotter, J.I., Saba, S….. Taylor, K.D… Lubitz, S.A., Lunetta, K.L., Ellinor, P.T.: Multi-ethnic genome-wide association analyses for atrial fibrillation reveals 70 novel loci, Nature Genetics, 50(9):1225-1233, September, 2018. (e-published 6/11/2018, doi:10.1038/s41588-018- 0133-9) PMID: 29892015 PMCID: 6136836 
  2. Lin, H.J., Lan, Y.-T., Silka, M….. Chen, Y.-D.I., Taylor, K.D., Guo, X… Soyata, T., Rotter, J.I., Chien, T., Chou, P., Chang, R.-K.: Home use of a compact, 12-lead ECG recording system for newborns, Journal of Electrocardiography, 53:89-94, January, 2019. (doi:10.1016/j.jelectrocard.2019.01.086) PMID: 30716528 PMCID: 6458066
  3. Khera,A.V., Mason-Suares, H., VanDenburgh, M.J….. Taylor, K.D… Rich, S.S., Rotter, J.I., Lander, E.S….. Lebo, M., Albert, C.M., Kathiresan, S.: Gene sequencing for adult-onset sudden cardiac death, Journal of the American College of Cardiology, 74(21):2623-34, November 26, 2019. (doi:10.1016/j.jacc.2019 08.1060) PMID: 31727422 PMCID: 7067308
  4. Young, W.J., Haessler, J., Benjamins, J.-W….. Guo, X… Ribeiro, A.L.P., Rotter, J.I., Stricker, B.H….. Lin, H.J… Lambiase, P.D., Tereschenko, L.G., Munroe, P.B.: Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease, Nature Communications, 14(1):1411, March 14, 2023. (doi;10.1038/s41467-023-36997-2) PMID: 36918541 PMCID: 10015012 
  5. Roselli, C., Surakka, I., Olesen, M.S… Guo, X… Lin, H.J… Roden, D.M., Rotter, J.I., Sabatine, M.S… Willer, C., Stefansson, K., Ellinor, P.T.: Meta-analysis of genome-wide association and polygenic risk prediction for atrial fibrillation in more than 180,000 cases, Nature Genetics, 57(3):539-547, March, 2025. (doi:10.1038/s41588-024-02072-3) PMID: 40050429
Pharmacogenetics
  1. Postmus, I., Trompet, S., Deshmukh, H.A..… Li, X… Chen, Y.-D.I… Guo, X… Rotter, J.I., Cupples, L.A., Psaty, B.M., Colhoun, H.M., Hitman, G., Tardif, J.-C., Krauss, R.M., Jukema, J.W., Caulfield, M.J.: Pharmacogenetic meta- analysis of genome-wide scans of LDL cholesterol response to statins, Nature Communications, 5:5068, October 28, 2014. (doi:10.1038/ncomms6068) PMID: 25350695 PMCID:4220464 
  2. Scott, R.A., Freitag, D.F., Li, L..… Riboli, E., Rotter, J.I., Saleheen, D..… Ehm, M.G., Wareham, N.J., Waterworth, D.M.: Genomic approach to therapeutic target validation identifies a glucose- lowering GLPIR variant protective for coronary heart disease, Science Translational Medicine, 8(341):341ra76, June 1, 2016. (doi:10.1126/scitranslmed.aad3744) PMID: 27252175 PMCID: 5219001
  3. Wei, W.-Q., Li, X., Feng, Q….. Wilke, R.A., Rotter, J.I., Stein, C.M., Momozawa, Y., Roden, D., Krauss, R.M., Denny, J.C.: LPA gene variants are associated with residual cardiovascular risk in patients receiving statins, Circulation, 138(17):1839-1849, October 23, 2018. (e-published 4/27/2018, doi:1161/CIRCULATIONAHA.117.031356) PMID: 29703846 PMCID: 6202211
  4. Gawrieh, S., Guo, X., Tan, J….. Taylor, K.D… Chen, Y.-D.I., Rotter, J.I., Chalasani, N., NASH Clinical Research Network: A pilot genome wide association study identifies promising loci associated with histological response and itching related to obeticholic acid in patients with nonalcoholic steatohepatitis, Hepatology Communications, 3(2):1571-1584, December, 2019. (doi: 10.1002/hep4.1439) PMID: 31832568 PMCID: 6887685
  5. Best, C.M., Li, X., Rotter, J.I… Taylor, K.D… Robinson-Cohen, C., de Boer, I.H., Kesterbaum, B.R.: Genetic variants associated with the biochemical response to Vitamin D3 in the Multi-Ethnic Study of Atherosclerosis, Journal of Clinical Endocrinology and Metabolism, in press, 2025. (e-published 1/16/2025, doi:10.1210/clinem/dgaf025) PMID: 39815761
Anthropometry (Includes Adiposity, Height)
  1. Akbari,P., Gilani, A., Sosina, O….. Chen, Y.-D.I., Rotter, J.I., Rader, D.J….. Baras, A., Ferreira, M.A.R., Lotta, L.A.: Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity, Science, 373(6550):eabf8683, July 2, 2021. (e-published 7/2/2021, doi:10.1126/science.abf8683) PMID: 34210852 PMCID: 10275396 
  2. Yengo, L., Vedantam, S., Marouli, E….. Guo, X… Li, X… Taylor, K.D… Chen, Y.-D.I… Rosendaal, F.R., Rotter, J.I., Rudan, I….. Wood, A.R., Visscher, P.M., Hirschhorn, J.N.: A Saturated map of common genetic variants associated with human height from 5.4 million individuals of diverse ancestries, Nature, 610(7933):704-712, October, 2022. (e-published 10/12/2022, doi:10.1038/s41586-022-05275-y) PMID: 36224396 PMCID: 960586 
  3. Vargas, L.B., Lange, L.A., Ferrier, K….. Taylor, K.D… Rich, S., Rotter, J.I., Lange, E.M., Konigsberg, I.R.: Gene expression associations with body mass index in the Multi-Ethnic Study of Atherosclerosis, International Journal of Obesity, 47(2):109-116, February, 2023. (e-published 12/3/2022, doi:10.1038/s41366-022-01240-x) PMID: 36463326 PMCID: 9990473
  4. Anwar, M.Y., Highland, H., Buchanan, V.L… Taylor, K.D…Gerszten, R.E., Clish, C.B., Goodarzi, M.O., Chen, Y.-D.I… Guo, X… Rotter, J.I., Rich, S.S., Liu, C.-T., Justice, A., North, K.: Machine-learning based clustering identifies obesity subgroups  with differential multi-omics profiles and metabolic patterns,Obesity, 32(11):2024-2034, November, 2024. (doi:10.1002/oby.24137) PMID: 39497627 PMCID: 11540333
  5.  Smit, R.A.J., Wade, K.H., Hui, Q… Guo, X… Li, X… Taylor, K.D…  Chen, Y.-D.I… Rosendaal, F.R., Rotter, J.I., Rudan, I… Sun, Y.V., Berndt, S.I., Loos, R.J.F.: Polygenic scores to predict body mass index and obesity across populations and through the life course powered by data from 5.1 million individuals, Nature Medicine, in press, 2025. (e-published 7/21/2025, doi:10.1038/s41591-025-03827-z) PMID: 40691366
Fatty Liver (Metabolic Associated Steatotic Liver Disease)
  1. Barata, L., Feitosa, M.F., Bielak, L.F….. Guo, X… Chen, Y.-D.I… Budoff, M.J… Gudnason, V., Rotter, J.I., Fornage, M….. Peyser, P.A., Speilotes, E.K., Province, M.: Insulin resistance exacerbates genetic predisposition to NAFLD, Hepatology Communications, 3(7):894-907, April 18, 2019. (doi:10.1002/hep4.1353) PMID: 31334442 PMCID: 6601321
  2. Vujkovic, M., Ramadas, S., Kimberly, R…..  Guo, X… Budoff, M… Lin, H.J., Chen, Y.-D.I., Taylor, K.D… Meigs, J.B., Rotter, J.I., Lynch, J.A….. Rader, D.J., Voight, B.F., Chang, K.-M.: A genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease in the Million Veteran Program, Nature Genetics, 54(6):761-771, June, 2022. (e-published 6/2/2022, doi:10.1038/s41588-022-01078-z) PMID: 35654975 PMCID: 10024253
  3. Chen, Y., Du, X., Kuppa, A….. Guo, X… Budoff, M.J… Chen, Y.-D.I., Taylor, K.D…Terry, J.G., Rotter, J.I., Wagenknecht, L.E….. Peyser, P.A., Palmer, N.D., Speliotes, E.K.: Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease, Nature Genetics, 55(10):1640-1650, October, 2023. (e-published 9/14/2023, doi:10.1038/s41588-023-01497-6) PMID: 37709864 PMCID: 10918428
  4. Moore, M.P., Wang, X., Kennelly, J.P… Guo, X… Mitsche, M.A., Rotter, J.I., Yates, K.P… Kono, N., Tontonoz, P., Tabas, I.: Low MBOAT7 expression, a genetic risk for MASH, promotes a pro-fibrotic pathway involving hepatocyte TAZ upregulation, Hepatology, 81(2):576-590, February 1, 2025. (e-published 5/22/2024, doi:10.1097/HEP. 00000000000000933) PMID: 38776184
  5. Hakim, A., Lin, K.-H., Schwantes-An, T.-H… Guo, X… Schwimmer, J.B., Rotter, J.I., Chalasani, N.P.: A comprehensive evaluation of candidate genetic polymorphisms in a large histologically characterized MASLD cohort using a novel framework, Hepatology Communications, 9(6):e0728, May 29, 2025. (doi:10.1097/HC9.00000000000000728) PMID: 40434633 PMCID: 12122170
Alzheimer’s (Includes Cognition, Dementia)
  1. Lambert, J.-C., Ibrahim-Verbaas, C.A., Harold, D..… Bettens, K., Rotter, J.I., Brice, A..… Williams, J., Schellenberg, G.D., Amouyel, P.: Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease, Nature Genetics, 45(12):1452-1458, December, 2013. (e-published 10/27/2013; doi:10.1038/ng.2802) PMID: 24162737 PMCID: 3896259  
  2. Davies, G., Lam, M., Harris, S.E….. Rose, R.J., Rotter, J.I., Roussos, P….. Taylor, K.D… Bressler, J., Lencz, T., Deary, I.J.: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function, Nature Communications, 9(1):2098, May 29, 2018. (doi:10.1038/S41467-018-4362-x) PMID: 29844566 PMCID: 5974083 
  3. Kunkle, B.W., Grenier-Boley, B., Vronskaya, M… Larson, E.B., Rotter, J.I., Bullido, M.J…Schellenberg, G.D., Lambert, J.-C., Pericak-Vance, M.A.: Genetic meta-analysis of diagnosedAlzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing, Nature Genetics, 51(3):414-430, March, 2019. (e-published 2/28/2019, doi:10.1038/s41588- 019-0358-2) PMID: 30820047 PMCID: 7473297 
  4. Fongang,  B., Sargurupremraj, M., Jian, X… Rich, S.S… Chasman, D.I., Rotter, J.I., Sattar, N.,. Kehoe, P.G., Weinstein, G., Seshadri, S. for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE): A genome-wide association meta-analysis of all-cause and vascular dementia, Alzheimer’s & Dementia, 20(9):5973-5995, September, 2024. (e-published 7/24/2024) PMID: 39046104 PMCID: 111497727
  5. Domingo-Relloso, A., McGraw, K.E… Wood, A.C… Post, W.S., Rotter, J.I., Palta, P., Valeri, L., Hughes, T.M., Navas-Acien, A.:  Urinary metals, cognitive test performance and incident dementia by APOE4 allele carrier status in the Multi-Ethnic Study of Atherosclerosis (MESA), JAMA Network, 7(12):e2448286, December 2, 2024. (doi:10.1001/jamanetworkopen.2024.48286) PMID: 39621345 PMCID: 11612832 
Sleep and Circadian Misalignment 
  1. Liu, P.Y., Lawrence-Sidebottom, D., Piotrowska, K…. Auchus, R.J., Veldhuis, J.D., Van Dongen, H.P.A.: Restoring testosterone and cortisol balance during sleep restriction in men improves metabolic outcomes, Journal of Clinical Endocrinology and Metabolism, 106(9):e3436-48, August, 2021. PMID: 34043794 PMCID: 8660069
  2. Kelly, M.R., Yuen, F., Satterfield, B.C., Auchus, R.J., Gaddameedhi, S., Van Dongen, H.P.A., Liu, P.Y.: Endogenous diurnal patterns of adrenal and gonadal hormones during a 24-hour constant routine after simulated shiftwork, Journal of the Endocrine Society, 6(12):bvac153, September, 2022. PMID: 36330292 PMCID: 9620969
  3. Kurniansyah,N., Wallace, D.A., Zhang, Y….. Rich, S.S., Rotter, J.I., Gharib, S.A., Redline, S., Sofer, T.: An integrated multi-omics analysis of sleep-disordered breathing traits implicates P2XR4 purinergic signaling, Communications Biology, 6(1):125, January 31, 2023. (doi:10.1038/s42003-023-04520-y) PMID: 36721044 PMCID: 9889381
  4. Wang,  Z., Wallace, D.A., Spitzer, B.W… Taylor, K.D., Rotter, J.I., Rich, S.S., Liu, P.Y… Redline, S., Isasi, C.R., Sofer, T.: Methylation risk score of C-reactive protein associates sleep health with related health outcomes, Communications Biology, 8(1):821, May 28, 2025. (doi:10.1038/s42003-025-08226-1) PMID: 40437222 PMCID: 12119824  
  5. Kurniansyah, N., Strausz, S.J., Chittoor, G… Kaplan, R., Rotter, J.I., Rich, S.S… Liu, P.Y…. Gottlieb, D.J., Sofer, T., FinnGen, The Trans-Omics in Precision Medicine Consortium, On Behalf of the VA Million Veteran Program: Polygenic risk scores for obstructive sleep apnea reveal pathways contributing to cardiovascular disease risk, EBioMedicine, 117:105790, June 4, 2025. (doi:10.1016/j.ebiom.2025.105790) PMID: 40472801
Gene by Environment (Includes Diet, Alcohol, Smoking, Physical Education, Air Pollution) 
  1. Wood,A.C., Senn, M.K., Rotter, J.I.: Associations between avocado intake and lower rates of incident type 2 diabetes in US adults with Hispanic/Latino ancestry, Journal of Diabetes Mellitus, 13(2):116-119, April, 2023. (doi:10.4236/jdm.2023.132010) PMID: 37693693 PMCID: 10489295
  2. Wood, A.C., Goodarzi, M.O., Senn, M.K….. Tracy, R.P., Herrington, D.M., Rotter, J.I.: Associations between metabolomic biomarkers of avocado intake and glycemia in the Multi-Ethnic Study of Atherosclerosis (MESA), Journal of Nutrition, 153(10:2797-2807, October, 2023. (e-published 9/9/2023, doi:10.1016/j.tjnut.2023.07.013) PMID: 37562669 PMCID: 10925911
  3. Li, Wang, M., Liu, X….. Guo, X., Rotter, J.I., Smith, J.A….. Levy, D., Liu, C., Ma, J.: Circulating metabolites may illustrate relationship of alcohol consumption with cardiovascular disease, BMC Medicine, 21(1):433, November 15, 2023. (doi:10.1186/s12916-023-03149-2) PMID: 37968697 PMCID: 10652547
  4. Senn, M.K., Goodarzi, M.O., Ramesh, G….. Gardia, T.P., Rotter, J.I., Wood, A.C.: Associations between avocado intake and measures of glucose and insulin homeostasis in Hispanic individuals with and without Type 2 diabetes: Results from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), Nutrition, Metabolism, and Cardiovascular Diseases, 33(12):2428-2439, December, 2023. (e-published 8/18/2023, doi:10.1016/j.numecd.2023.08.002) PMID: 37798236 PMCID: 10842938
  5. Wood, A.C., Graca, G., Senn, M.K.….. Goodarzi, M.O., Tracy, R., Rotter, J.I., Herrington, D.: Untargeted metabolomic analysis investigating links between meat intake and markers of inflammation,  The American Journal of Clinical Nutrition, 118(5):989-999, November, 2023. (e-published 9/1/2023, doi:10.1016/j.ajcnut.2023.08.018) PMID: 37660929 PMCID: 10797554