iSAEC Publications and Related References

iSAEC publications:

(ordered by year of publication)

Minocycline hepatotoxicity: Clinical characterization and identification of HLA-B*35:02 as a risk factor, Thomas Jacob Urban, Paola Nicoletti, Naga Chalasani, et al, Journal of Hepatology, 2017 Mar 18.

Genome-wide association study (GWAS) to identify genetic risk factors that increase susceptibility to anti-tuberculosis drug-induced liver injury (ATDILI), Paola Nicoletti, Harshad Devarbhavi, Ashish Goel, et al, Abstract submission to the 2017 AASLD meeting

Genome-Wide Association Study of Nevirapine Hypersensitivity in a sub-Saharan 1 African HIV-infected Population, Daniel F Carr, Stephane Bourgeois, Mas Chaponda, et al, Journal of Antimicrobial Chemotherapy, August 2016.

Rationale and Design of The Genetic Contribution to Drug Induced Renal Injury Study (DIRECT), Linda Awdishu, Caroline M. Nievergelt, Andrew Davenport, et al, Kidney International Reports (2016).

HLA-DRB1*16:01-DQB1*05:02 is a novel genetic risk factor for flupirtine-induced liver injury, Paola Nicoletti, Anneke N. Werk, Ashley Sawle, et al, Pharmacogenetics and Genomics, February 1, 2016.

Clinical features and HLA association of 5-Aminosalicylate (5-ASA) induced nephrotoxicity in inflammatory bowel disease, Graham A Heap, Kenji So, Mike Weedon, et al, Journal of Crohn's and Colitis, November 29, 2015.

Antipsychotic medications and extremeweight gain in two health systems, David Arterburn, G. Craig Wood, Mary Kay Theis, et al, Obesity Research & Clinical Practice, August 2015.

Phenotype standardization for drug-induced kidney disease, Ravindra L. Mehta, Linda Awdishu, Andrew Davenport, et al, Kidney International, April 2015.

The International Serious Adverse Events Consortium, Arthur L. Holden, Jorge L. Contreras, Sally John and Matthew R. Nelson, NATURE REVIEWS | DRUG DISCOVERY, VOLUME 13 | NOVEMBER 2014.

HLA-DQA1–HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants, Graham A Heap, Michael N Weedon, Claire M Bewshea1, et al, Nature Genetics, September 2014.

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles, Jacqueline I. Goldstein, L. Fredrik Jarskog, Chris Hilliard, et al, Nature Communications, September 2014.

Testing the Hapten Concept for Drug-Induced Liver Injury, Jacqueline I. Goldstein, Elaine T. Lim, Hailiang Huang, et. al., Annual Meeting of the American Society of Human Genetics, Boston, October 2013.

The International Serious Adverse Events Consortium's data sharing model, Contreras JL, Floratos A, Holden AL., Nat Biotechnol, 31(1):17-9, Jan 9 2013.

Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs, Urban TJ, Shen Y, Stolz A, Chalasani N et al., Pharmacogenetics and Genomics, September 2012.

The International Serious Adverse Events Consortium (iSAEC) phenotype standardization project for drug-induced torsades de pointes, Elijah R. Behr, Craig January, Eric Schulze-Bahr, Andrew A. Grace et al., European Heart Journal, July 2012.

The Phenotype Standardization Project: Improving Pharmacogenetic Studies of Serious Adverse Drug Reactions, M Pirmohamed, GP Aithal, E Behr, A Daly et al., Clin Pharmacol Ther., 9(6):784-58, 2011.

Phenotype Standardization for Immune-Mediated Drug-Induced Skin Injury, M Pirmohamed, PS Friedmann, M Molokhia, YK Loke et al.,Clin Pharmacol Ther., 89(6):896-901, 2011.

Case Definition and Phenotype Standardization in Drug-Induced Liver Injury, GP Aithal, PB Watkins, RJ Andrade, D Larrey et al., Clin Pharmacol Ther., 89(6):806-15, 2011.

Susceptibility to Amoxicillin-Clavulanate-Induced Liver Injury Is Influenced by Multiple HLA Class I and II Alleles, M. Isabel Lucena, Mariam Molokhia, Yufeng Shen, Thomas J. Urban et al., Gastroenterology. 2011.

Genome-wide association study of serious blistering skin rash caused by drugs, Shen Y, Nicoletti P et al., Pharmacogenomics J. 2011.

HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Daly, A.K., Donaldson, P.T. et al. Nature Genetics. 2009.

Non-iSAEC reference articles:

(ordered by year of publication)

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy, Sara L. Van Driest, Tracy L. McGregor, Digna R. Velez Edwards, et al, PLoS ONE 10(6): e0127791. doi:10.1371/ journal.pone.0127791. June 2015.

The support of human genetic evidence for approved drug indications, Matthew R Nelson, Hannah Tipney, Jeffery L Painter, et al, Nature Genetics, June 2015.

Major histocompatibility complex class II polymorphisms are associated with the development of anti-resorptive agent-induced osteonecrosis of the jaw.Stockmann P, Nkenke E, Englbrecht M, Schlittenbauer T, et al. Science Direct, Jan 2013

Pharmacogenomics in clinical practice and drug development.Harper AR, Topol EJ.Nat Biotechnol., 30(11):1117-24, Nov 2012

Immune self-reactivity triggered by drug-modified HLA-peptide repertoire.Patricia T. Illing, Julian P. Vivian, Nadine L. Dudek, Lyudmila Kostenko, et al. Nature, May 2012

Clinical practice. Antibiotic allergy.Rebecca S. Gruchalla and Munir Pirmohamed The NEW ENGLAND JOURNAL of MEDICINE, March 2012

Genomewide Pharmacogenetics of Bisphosphonate-Induced Osteonecrosis of the Jaw: The Role of RBMS3. Paola Nicoletti, Vassiliki M. Cartsos, Penelope K. Palaska, Yufeng Shen, et al. The Oncologist, January 2012

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.John C Chambers, Weihua Zhang, Joban Sehmi, Xinzhong Li, et al. Nature Genetics, October 2011

Pharmacogenetics: past, present and future. Munir Pirmohamed. Drug Discovery Today, August 2011

Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. Emmanuelle Génin, Martin Schumacher, Jean-Claude Roujeau, Luigi Naldi, et al . Orphanet Journal of Rare Diseases, July 2011

Using electronic health records to drive discovery in disease genomics. Isaac S. Kohane. Nature Reviews, June 2011, Volume 12

Carbamazepine-Induced Toxic Effects and HLA-B*1502 Screening in Taiwan. Pei Chen, Juei-Jueng Lin, Chin-Song Lu, Cheung-Ter Ong, et al. The New England Journal of Medicine, March 2011, 364;12: pp. 1126-33

HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans. Mark McCormack, Ana Alfirevic, Stephane Bourgeois, John J. Farrell, et al. The New England Journal of Medicine, March 2011, 364;12: pp. 1134-43

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. George F Mells, James A B Floyd, Katherine I Morley, Heather J Cordell, et al. Nature Genetics, March 2011

The Spectrum of Nimesulide-Induced-Hepatotoxicity. An Overview. Fernando Bessone, Luis Colombato, Eduardo Fassio, Maria Virginia Reggiardo, Julio Vorobioff and Hugo Tanno. Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry, December 2010, 9(4): pp. 355-365

Polymorphisms of the HTR2C gene and antipsychotic-induced weight gain: an update and meta-analysis. Sicard, Zai, Tiwari et al. Future Medicine Ltd. Nov 2010.

ALDEN, an Algorithm for Assessment of Drug Causality in Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis: Comparison With Case–Control Analysis. B Sassolas, C Haddad, M Mockenhaupt, A Dunant, Y Liss, K Bork, UF Haustein, D Vieluf, JC Roujeau and H Le Louet for the RegiSCAR Study Group Nature Publishing Group. July 2010.

Prepublication Data Release, Latency, and Genome Commons. Jorge L. Contreras American Association for the Advancement of Science. July 23,2010.

Genome-wide association studies in pharmacogenomics. Ann K. Daly Nature Genetics. April, 2010.

Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies Shuhua Xu, Xianyong Yin, Shilin Li, Wenfei Jin, et al. American Journal of Human Genetics. December 11, 2009.

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. Colin J D Ross, Hagit Katzov-Eckert, et al. Nature Genetics. 2009.

Pharmacogenomic approaches in clinical studies to identify biomarkers of safety and efficacy. M.E. Burczynski. Toxicology Letters. 186(2009) 18-21

The Changing Face of Biobanks. Jeanene Swanson. GenomeWeb. July/August 2009

HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Kaniwa, N., Saito, Y., Aihara, M., Matsunaga, K., et al. Pharmacogenomics. 2008, 9(11): 1617-1622.

SLCO1B1 Variants and Statin-Induced Myopathy - A Genomewide Study. The SEARCH Collaborative Group. The New England Journal of Medicine. 2008 Aug 21.

SKDM human leukocyte antigen (HLA) tool: A comprehensive HLA and disease associations analysis software. Stathis Kanterakis, Eleni Magira, Kenneth D. Rosenman, Milton Rossman, Keyur Talsania, Dimitri S. Monos. ASHI: American Society for Histocompatibility & Immunogenetics. Human Immunology (2008) 69, 522-525

Mapping the genetic architecture of gene expression in human liver, Schadt, E.E., C. Molony et al., PLoS Biol, 2008. 6(5): p. e107.

A European Study of HLA-B in Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis Related to Five High-risk Drugs. Lonjou, C., Borot, N., et. al. Pharmacogenetics and Genomics 2008, 18:99-107.

Case-control study of the association between select HLA genes and anti-erythropoietin antibody-positive pure red-cell aplasia. Figal, B., Ricci, D., et al. Pharmacogenomics 2008 9(2), 157-167.

The innovative use of a large-scale industry biomedical consortium to research the genetic basis of drug induced serious adverse events. Holden, A. Drug Discovery Today: Technologies. 2007 Nov. 4(2): 75-87.

Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Wilke RA, Lin DW, Roden DM, Watkins PB, Flockhart D, Zineh I, Giacomini KM, Krauss RM. Nat Rev Drug Discov. 2007 Nov; 6( 11): 904-16. PMID: 17971785

Tacrine-induced liver damage: an analysis of 19 candidate genes. Ana Alfirevic, Tracy Mills, Daniel Carr, Bryan J. Barratt, Ansar Jawaid, James Sherwood, John C. Smith, Jonathan Tugwood, Ruben Hartkoorn, Andrew Owen, Kevin B. Park and Munir Pirmohame. Pharmacogenetics and Genomics 2007, 17:1091–1100.

Molecular and genetic association of interleukin-6 in tacrine-induced hepatotoxicity. Daniel F. Carr, Ana Alfirevic, Jonathan D. Tugwood, Bryan J. Barratt, James Sherwood, John Smith, Munir Pirmohamed and B. Kevin Park. Pharmacogenetics and Genomics 2007, 17:961–972.

Investigation into the multidimensional genetic basis of drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis. M. Pirohamed, J. Arbuckle, C. Bowman, M. Brunner, D. Burns, O. Delrieu, L. Dix, J. Twomey, R. Stern. Pharmacogenomics 2007. 8(12); 1661-1691.

Genetic and Molecular Factors in Drug-Induced Liver Injury: A Review. K. Pachkoria, M. I. Lucena, M. Molokhia, R. Cueto, A. S. Carballo, A. Carvajal and R. J. Andrade. Current Drug Safety, 2007, Vol. 2, No. 2: 1-16.

A marker for Stevens-Johnson syndrome ...: ethnicity matters. Lonjou C, Thomas L, Borot N, Ledger N, de Toma C, LeLouet H, Graf E, Schumacher M, Hovnanian A, Mockenhaupt M, Roujeau JC; RegiSCAR Group. Pharmacogenomics J. 2006 Jul-Aug; 6( 4): 265-8. Epub 2006 Jan 17. PMID: 16415921

National surveillance of emergency department visits for outpatient adverse drug events. Budnitz DS, Pollock DA, Weidenbach KN, Mendelsohn AB, Schroeder TJ, Annest JL. JAMA. 2006 Oct 18; 296( 15): 1858-66. PMID: 17047216

Adverse drug reactions as cause of admission to hospital: prospective analysis of 18 820 patients. Pirmohamed M, James S, Meakin S, Green C, Scott AK, Walley TJ, Farrar K, Park BK, Breckenridge AM. BMJ. 2004 Jul 3; 329( 7456): 15-9. PMID: 15231615

Cytochrome P450 2E1 Genotype and the Susceptibility to Antituberculosis Drug–Induced Hepatitis. Huang, Y.S., Chern, H.D., Su, W.J., Wu, J.C., Chang, S.C., Chiang, C.H., Change, F.Y., Lee, S.D., Chang, F.Y., Lee, S.D. Hepatology, Vol. 37, No. 4, 2003.

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus. Watanabe, I., Tomita, A., Shimizu, M., Sugawara, M., Yasumo, H., Koishi, R., Takahashi, T., Miyoshi, K., Nakamura, K., Izumi, T., Matsushita, Y., Furukawa, H., Haruyama, H., Koga, T. Clinical Pharmacology and Therapeutics, May, 2003.

Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial. Rossouw JE, Anderson GL, Prentice RL, LaCroix AZ, Kooperberg C, Stefanick ML, Jackson RD, Beresford SA, Howard BV, Johnson KC, Kotchen JM, Ockene J; Writing Group for the Women's Health Initiative Investigators. JAMA. 2002 Jul 17; 288( 3): 321-33. PMID: 12117397

Genetic Susceptibility to Adverse Drug Reactions. Munir Pirmohamed and B. Kevin Park. TRENDS in Pharmacological Sciences. June 2001; 298-305. Vol.22 No.6.

Age adjustment using the 2000 projected U.S. population. Klein RJ, Schoenborn CA.Healthy People 2010 Stat Notes. 2001 Jan;( 20): 1-10. PMID: 11676466

Pharmacogenetics and adverse drug reactions. Meyer UA. Lancet. 2000 Nov 11;356(9242):1667-71. Review. PMID: 11089838

Adverse Drug Events: The Magnitude of Health Risk is Uncertain because of Limited Incidence Data. GAO, January 2000.

Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. Lazarou J, Pomeranz BH, Corey PN. JAMA. 1998 Apr 15; 279( 15): 1200-5. PMID: 9555760