Genes determine your height, hair color and even, in some cases, whether or not you will get certain diseases. Much of what scientists know about human disease today has been learned from the study of genetics, and in my lab we focus on how genes can trigger the onset of disease, make disease worse or even why they express themselves differently in one person versus another. In particular, we study the roles genes play in auto-immune and auto-inflammatory diseases.
While I began my career in the field of cancer genetics, I never lost ties to the work I began as a graduate student in genetics of the immune system. I now direct the Sarcoidosis Research Unit and lead projects focused on understanding the genetic and environmental risk factors of sarcoidosis. This “medical mystery” occurs when small nodules called granulomas form in and around organs. Our goal is to better understand the risk factors of sarcoidosis so that we can better diagnose, treat and even prevent disease.
My laboratory is focused on the identification of genes predisposing to complex diseases, particularly colon cancer and inflammatory disorders like systemic lupus erythematosus (SLE) and sarcoidosis. We are also involved in the development of new statistical and computational tools to aid in the discovery of these genes.
Colorectal cancer is the second leading cause of cancer mortality in adult Americans with each American carrying a 6% lifetime risk of developing the disease. While early stage cancers can be highly curable, late stage colon cancers remain incurable. Both somatic and germline mutations have been associated with the development of colon cancer and its precursor adenomatous colon polyps (ACPs). However, familial colon cancers with known cause: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC) account for <1% and ~5% of all colon cancer cases annually, respectively. Our studies, in collaboration with our colleagues at Case Western Reserve University, are aimed at identifying additional alleles predisposing to colon neoplasia vital to describing individuals at high risk for developing colon cancer, and for whom colon cancer screening and early detection can have potentially life-saving benefits.
SLE is a systemic autoimmune disease most frequently and severely affecting women and has diverse clinical manifestations involving the joints, kidneys, brain, and several other organ systems. OMRF and our studies have played a major role in a longstanding effort devoted to identifying genes involved in SLE. The focus of my most recent work in this area is the identification of genes involved in the targets of the earliest autoimmune response. Identification of these genes would give us insight into the biological mechanisms underlying SLE and, potentially, other autoimmune disorders and therefore the ability to intervene in disease progression before or at the earliest stages of clinical presentation.
Sarcoidosis, a systemic granulomatous disease, has been associated with various environmental exposures and infectious agents, as well as family history. It is characterized by the presence of granulomas in the liver, lymph glands, bone marrow, brain, and most frequently, the lungs. Sarcoidosis is more prevalent in women and, in the United States, African Americans are both more commonly and more severely affected than Caucasians. Our studies, together with our collaborators at Henry Ford Health Systems, have identified a major genetic component on chromosome 5 unique to African Americans. Current studies focus on using ancestry-specific information to help elucidate the exact location of these genes.
B.A. (honors), Oklahoma City University, 1995
M.S., University of Oklahoma Health Sciences Center, 2000
Ph.D., Case Western Reserve University, Cleveland, OH, 2004
Honors and Awards
1995 Outstanding Science Student Award, Oklahoma City University
1995 Rhodes Scholar Semifinalist, Oxford University
1999 2nd Place, College of Public Health Graduate Student Research Competition, University of Oklahoma Health Sciences Center
2000 Graduate Student Association Award, University of Oklahoma Health Sciences Center
2000-2002 NHLBI trainee fellow, Case Western Reserve University Division of Genetic and Molecular Epidemiology
2001 Nominee for C.W. Cotterman Award, American Society of Human Genetics
2002-2003 Student of the Year Award, Case Western Reserve University Division of Genetic and Molecular Epidemiology
2012 J. Donald and Patricia Capra Award for Scientific Achievement
Editor, BMC Genetics, Genetic Analysis Workshop (2004-2005)
Reviewer, Human Heredity (2005-present)
Reviewer, Genes and Immunity (2005-present)
Reviewer, BioTechniques (2005-present)
Reviewer, The Journal of Clinical Endocrinology & Metabolism (2006-present)
Editorial Board Member, Open Genetics Journal (2007)
Reviewer, BMC Genetics, Genetic Analysis Workshop (2007)
Reviewer, Annals of Human Genetics (2007-present)
Reviewer, Biometrical Journal (2007-present)
American Association for Cancer Research
American Association for the Advancement of Science
American Statistical Association
American Society of Human Genetics
International Genetic Epidemiology Society
Joined OMRF Scientific Staff in 2008.
Bagavant H, Dunkleberger ML, Wolska N, Sroka M, Rasmussen A, Adrianto I, Montgomery C, Sivils K, Guthridge JM, James JA, Merrill JT, Deshmukh US. Antibodies to periodontogenic bacteria are associated with higher disease activity in lupus patients. Clin Exp Rheumatol. 2018 Jun 25. [Epub ahead of print] PMID: 29998833
Leehan KM, Pezant NP, Rasmussen A, Grundahl K, Moore JS, Radfar L, Lewis DM, Stone DU, Lessard CJ, Rhodus NL, Segal BM, Scofield RH, Sivils KL, Montgomery C, Farris AD. Minor salivary gland fibrosis in Sjögren's syndrome is elevated, associated with focus score and not solely a consequence of aging. Clin Exp Rheumatol. 2017 Oct 23. PMID:29148407
Moller DR, Rybicki BA, Hamzeh NY, Montgomery CG, Chen ES, Drake W, Fontenot AP. Genetic, Immunologic, and Environmental Basis of Sarcoidosis. Ann Am Thorac Soc. 2017 Dec; 14(Supplement_6):S429-S436. PMID: 29073364
Adrianto I, Montgomery C. Estimating Allele Frequencies. Methods Mol Biol. 2017;850:59-76. PMID:22307694
Joachims ML, Leehan KM, Lawrence C, Pelikan RC, Moore JS, Pan Z, Rasmussen A, Radfar L, Lewis DM, Grundahl KM, Kelly JA, Wiley GB, Shugay M, Chudakov DM, Lessard CJ, Stone DU, Scofield RH, Montgomery CG, Sivils KL, Thompson LF, Farris AD. Single-cell analysis of glandular T cell receptors in Sjögren's syndrome. JCI Insight. 2016 Jun 2;1(8). pii: e85609. [Abstract] PMCID: PMC4922426
Bello GA, Brown MA, Kelly JA, Thanou A, James JA, Montgomery CG. Development and validation of a simple lupus severity index using ACR criteria for classification of SLE. Lupus Sci Med. 2016 Mar 10;3(1):e000136. eCollection 2016. [Abstract] PMID: 27026812
Fischer A, Ellinghaus D, Nutsua M, Hofmann S, Montgomery CG, Iannuzzi MC, Rybicki BA, Petrek M, Mrazek F, Pabst S, Grohe C, Grunewald J, Ronninger M, Eklund A, Padyukov L, Mihailovic-Vucinic V, Jovanovic D, Sterclova M, Homolka J, Nothen MM, Herms S, Gieger C, Strauch K, Winkelmann J, Boehm BO, Brand S, Buning C, Schurmann M, Ellinghaus E, Baurecht H, Lieb W, Nebel A, Muller-Quernheim J, Franke A, Schreiber S, GenPhenReSa Consortium. Identification of immune-relevant factors conferring sarcoidosis genetic risk. Am J Respir Crit Care Med 2015. [Abstract] EPub
Levin AM, Adrianto I, Datta I, Iannuzzi MC, Trudeau S, Drake WP, Li J, Montgomery CG, Rybicki BA. Association of HLA-DRB1 with Sarcoidosis susceptibility and progression in African Americans. Am J Respir Cell Mol Biol 2015. [Abstract] EPub
* Kottyan LC, Zoller EE, Bene J, ..., Lessard CJ, ...., Montgomery CG, ..., Nath SK, , ..., Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, ..., Moser Sivils KL, Gaffney PM, et al. The IRF5-TNPO3 association with systemic lupus erythematosus (SLE) has two components that other autoimmune disorders variably share. Hum Mol Genet 24:582-596, 2014. [Abstract]
Arthritis & Clinical Immunology Research Program, MS 58
Oklahoma Medical Research Foundation
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Oklahoma City, OK 73104
Phone: (405) 271-2584
Fax: (405) 271-2578
Lori Garman, Ph.D.
Associate Staff Scientist
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Richard Pelikan, Ph.D.
Chuang Li, Ph.D.
Senior Data Analyst
Lindsey Long, Ph.D.
Assistant Staff Scientist
Clinical Research Nurse