Photo of Andrea Baccarelli,  MD, PhD

Andrea Baccarelli, MD, PhD

Harvard T.H. Chan School Of Public Health

Harvard T.H. Chan School Of Public Health
Phone: (617) 384-8742

Andrea Baccarelli, MD, PhD

Harvard T.H. Chan School Of Public Health


  • Mark and Catherine Winkler Associate Professor of Environmental Epigenetics, Environmental Health, Harvard T.H. Chan School Of Public Health
  • Associate Professor, Environmental Health, Harvard T.H. Chan School Of Public Health


Research Abstract

My research focuses on identifying molecular and biological factors reflecting the impact of environmental exposures on cancer risk, with particular interest in epigenetics. Epigenetic marks, including DNA methylation, histone modifications, and non-coding RNAs, modify chromatin structure and gene expression without changing the underlying DNA sequence. Unlike genetic mutations, which represent rare events with permanent consequences on genes, epigenetic changes are reversible and responsive to environmental influences. Using a highly quantitative Pyrosequencing-based approach for DNA methylation analysis, I have been examining the effects on DNA methylation of a variety of environmental carcinogens, including particulate air pollution, airborne benzene, metals, pesticides, dioxin-like compounds, and persistent organic pollutants, which are known to be relevant to cancer etiology.

The epigenetic effects I have helped unveil can potentially modify health trajectories and affect cancer risk. I have recently demonstrated that Long interspersed nuclear element-1 (LINE-1), a sequence repeated up to half million times in the human genome, is peculiarly sensitive to demethylation in response to air pollution. I have also found that subjects with hypomethylated LINE-1 have higher incidence of and mortality from cancer. In addition, I have used epigenetic analysis to develop new biomarkers of cancer risk in case control studies on stomach cancer, prostate cancer, multiple myeloma, and leukemia. I have been investigating the epigenetic effects of environmental and occupational carcinogens, as well as the associations of epigenetic biomarkers with cancer risk, in studies in the U.S. and in several international studies in Italy, Poland, Russia, Oman, Mexico, Thailand, and China.

I am currently expanding my research in two complementary directions: 1) I am developing comprehensive investigations on multiple epigenetic mechanisms that cooperate to control gene expression. To this end, I have recently established in my laboratory methods for histone modifications and microRNA analysis that are amenable to use in human studies. I have recently used these methods to demonstrate that exposure to metal-rich particulate matter in a study of steel workers modified the levels of both histone modifications and microRNAs in blood leukocytes. 2) I have been taking advantage of recent technological advances that make possible to perform epigenome-wide analyses. I have piloted the use of microarray methods for DNA methylation analysis in investigations of air pollution and pesticide exposures that have the potential to open new research paths for unbiased methylomic mapping of environmentally-sensitive epialleles.


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  • Joyce BT, Gao T, Liu L, Zheng Y, Liu S, Zhang W, Penedo F, Dai Q, Schwartz J, Baccarelli AA, Hou L. Longitudinal Study of DNA Methylation of Inflammatory Genes and Cancer Risk. Cancer Epidemiol Biomarkers Prev 2015; 24:1531-8. PubMed
  • Pearce N, Blair A, Vineis P, Ahrens W, Andersen A, Anto JM, Armstrong BK, Baccarelli AA, Beland FA, Berrington A, Bertazzi PA, Birnbaum LS, Brownson RC, Bucher JR, Cantor KP, Cardis E, Cherrie JW, Christiani DC, Cocco P, Coggon D, Comba P, Demers PA, Dement JM, Douwes J, Eisen EA, Engel LS, Fenske RA, Fleming LE, Fletcher T, Fontham E, Forastiere F, Frentzel-Beyme R, Fritschi L, Gerin M, Goldberg M, Grandjean P, Grimsrud TK, Gustavsson P, Haines A, Hartge P, Hansen J, Hauptmann M, Heederik D, Hemminki K, Hemon D, Hertz-Picciotto I, Hoppin JA, Huff J, Jarvholm B, Kang D, Karagas MR, Kjaerheim K, Kjuus H, Kogevinas M, Kriebel D, Kristensen P, Kromhout H, Laden F, Lebailly P, LeMasters G, Lubin JH, Lynch CF, Lynge E, 't Mannetje A, McMichael AJ, McLaughlin JR, Marrett L, Martuzzi M, Merchant JA, Merler E, Merletti F, Miller A, Mirer FE, Monson R, Nordby KC, Olshan AF, Parent ME, Perera FP, Perry MJ, Pesatori AC, Pirastu R, Porta M, Pukkala E, Rice C, Richardson DB, Ritter L, Ritz B, Ronckers CM, Rushton L, Rusiecki JA, Rusyn I, Samet JM, Sandler DP, de Sanjose S, Schernhammer E, Costantini AS, Seixas N, Shy C, Siemiatycki J, Silverman DT, Simonato L, Smith AH, Smith MT, Spinelli JJ, Spitz MR, Stallones L, Stayner LT, Steenland K, Stenzel M, Stewart BW, Stewart PA, Symanski E, Terracini B, Tolbert PE, Vainio H, Vena J, Vermeulen R, Victora CG, Ward EM, Weinberg CR, Weisenburger D, Wesseling C, Weiderpass E, Zahm SH. IARC monographs: 40 years of evaluating carcinogenic hazards to humans. Environ Health Perspect 2015. PubMed
  • Hassan S, Petrella TM, Zhang T, Kamel-Reid S, Nordio F, Baccarelli A, Sade S, Naert K, Habeeb AA, Ghazarian D, Wright FC. Pathologic complete response to intralesional interleukin-2 therapy associated with improved survival in melanoma patients with in-transit disease. Ann Surg Oncol 2015. PubMed
  • Seow WJ, Pan WC, Kile ML, Tong L, Baccarelli AA, Quamruzzaman Q, Rahman M, Mostofa G, Rakibuz-Zaman M, Kibriya M, Ahsan H, Lin X, Christiani DC. A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh. Cancer 2015. PubMed
  • Andreotti G, Hoppin JA, Hou L, Koutros S, Gadalla SM, Savage SA, Lubin J, Blair A, Hoxha M, Baccarelli A, Sandler D, Alavanja M, Beane Freeman LE. Pesticide Use and Relative Leukocyte Telomere Length in the Agricultural Health Study. PLoS ONE 2015; 10:e0133382. PubMed
  • Shaughnessy DT, McAllister K, Worth L, Haugen AC, Meyer JN, Domann FE, Van Houten B, Mostoslavsky R, Bultman SJ, Baccarelli AA, Begley TJ, Sobol RW, Hirschey MD, Ideker T, Santos JH, Copeland WC, Tice RR, Balshaw DM, Tyson FL. Mitochondria, energetics, epigenetics, and cellular responses to stress. Environ Health Perspect 2014. PubMed
  • Seow WJ, Kile ML, Baccarelli AA, Pan WC, Byun HM, Mostofa G, Quamruzzaman Q, Rahman M, Lin X, Christiani DC. Epigenome-wide DNA methylation changes with development of arsenic-induced skin lesions in Bangladesh: a case-control follow-up study. Environ Mol Mutagen 2014. PubMed
  • Andreotti G, Hoppin J, Savage S, Hou L, Baccarelli A, Hoxha M, Koutros S, Sandler D, Alavanja M, Beane Freeman L. 0127窶⑰esticide use and relative telomere length in the Agricultural Health Study. Occup Environ Med 2014; 71 Suppl 1:A14-5. PubMed
  • Guo L, Byun HM, Zhong J, Motta V, Barupal J, Zheng Y, Dou C, Zhang F, McCracken JP, Diaz A, Marco SG, Colicino S, Schwartz J, Wang S, Hou L, Baccarelli AA. Effects of short-term exposure to inhalable particulate matter on DNA methylation of tandem repeats. Environ Mol Mutagen 2014; 55:322-35. PubMed
  • Kile ML, Houseman EA, Baccarelli AA, Quamruzzaman Q, Rahman M, Mostofa G, Cardenas A, Wright RO, Christiani DC. Effect of prenatal arsenic exposure on DNA methylation and leukocyte subpopulations in cord blood. Epigenetics 2014; 9:774-82. PubMed
  • Ma B, Wilker EH, Willis-Owen SA, Byun HM, Wong KC, Motta V, Baccarelli AA, Schwartz J, Cookson WO, Khabbaz K, Mittleman MA, Moffatt MF, Liang L. Predicting DNA methylation level across human tissues. Nucleic Acids Res 2014; 42:3515-28. PubMed
  • Hou L, Zhang X, Zheng Y, Wang S, Dou C, Guo L, Byun HM, Motta V, McCracken J, Díaz A, Kang CM, Koutrakis P, Bertazzi PA, Li J, Schwartz J, Baccarelli AA. Altered methylation in tandem repeat element and elemental component levels in inhalable air particles. Environ Mol Mutagen 2014; 55:256-65. PubMed
  • Burris HH, Baccarelli AA. Environmental epigenetics: from novelty to scientific discipline. 2013; 34:113-6. PubMed
  • Peluso ME, Munnia A, Bollati V, Srivatanakul P, Jedpiyawongse A, Sangrajrang S, Ceppi M, Giese RW, Boffetta P, Baccarelli AA. Aberrant methylation of hypermethylated-in-cancer-1 and exocyclic DNA adducts in tobacco smokers. Toxicol Sci 2013; 137:47-54. PubMed
  • Sofer T, Schifano ED, Hoppin JA, Hou L, Baccarelli AA. A-clustering: a novel method for the detection of co-regulated methylation regions, and regions associated with exposure. Bioinformatics 2013; 29:2884-91. PubMed
  • Hou L, Andreotti G, Baccarelli AA, Savage S, Hoppin JA, Sandler DP, Barker J, Zhu ZZ, Hoxha M, Dioni L, Zhang X, Koutros S, Freeman LE, Alavanja MC. Lifetime pesticide use and telomere shortening among male pesticide applicators in the Agricultural Health Study. Environ Health Perspect 2013; 121:919-24. PubMed
  • Wan ES, Qiu W, Baccarelli A, Carey VJ, Bacherman H, Rennard SI, Agusti A, Anderson W, Lomas DA, Demeo DL. Cigarette smoking behaviors and time since quitting are associated with differential DNA methylation across the human genome. Hum Mol Genet 2012; 21:3073-82. PubMed
  • Purdue MP, Hofmann JN, Colt JS, Hoxha M, Ruterbusch JJ, Davis FG, Rothman N, Wacholder S, Schwartz KL, Baccarelli A, Chow WH. A case-control study of peripheral blood mitochondrial DNA copy number and risk of renal cell carcinoma. PLoS ONE 2012; 7:e43149. PubMed
  • Zhu ZZ, Sparrow D, Hou L, Tarantini L, Bollati V, Litonjua AA, Zanobetti A, Vokonas P, Wright RO, Baccarelli A, Schwartz J. Repetitive element hypomethylation in blood leukocyte DNA and cancer incidence, prevalence, and mortality in elderly individuals: the Normative Aging Study. Cancer Causes Control 2011; 22:437-47. PubMed