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.
Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium., TOPMed Hematology & Hemostasis Working Group., Raffield LM, Reiner AP, Li Y. Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations. PLoS Genet 15:e1008500, 2019 December, PMID: 31869403
Rasmussen A, Stone DU, Kaufman CE, Hefner KS, Fram NR, Siatkowski RL, Huang AJW, Chodosh J, Rasmussen PT, Fife DA, Pezant N, Grundahl K, Radfar L, Lewis DM, Weisman MH, Venuturupalli S, Wallace DJ, Rhodus NL, Brennan MT, Montgomery CG, Lessard CJ, Scofield RH, Sivils KL. Reproducibility of Ocular Surface Staining in the Assessment of Sjögren Syndrome-Related Keratoconjunctivitis Sicca: Implications on Disease Classification. ACR Open Rheumatol 1:292-302, 2019 July, PMID: 31453437, PMCID: PMC6710016
Scofield RH, Sharma R, Pezant N, Kelly JA, Radfar L, Lewis DM, Kaufman CE, Cioli S, Harris J, Grundahl K, Rhodus NL, Wallace DJ, Weisman MH, Venuturupalli S, Brennan MT, Koelsch KA, Lessard CJ, Montgomery CG, Sivils KL, Rasmussen A. American Indians Have A Higher Risk Of Sjögren's Syndrome And More Disease Activity Than Caucasians And African-Americans. Arthritis Care Res (Hoboken), 2019 June, PMID: 31199565, PMCID: PMC6911033
Pelikan R, Kelly JA, Fu Y, Laraeu CA, Tessneer KL, Wiley GB, Wiley M, Glenn SB, HarleyJB, Guthridge JM, James JA, Aryee MJ, Montgomery CG, Gaffney PM. Enhancer histone-QTLs are enriched on autoimmune disease risk haplotypes and influence gene expression variability within chromatin networks. Nature Communications, 2018. PMID: 30046115 PMCID: 6060153
Lareau CA, DeWeese CF, Adrianto I, Lessard CJ, Gaffney PM, Iannuzzi MC, Rybicki BA, Levin AM, Montgomery CG. Polygenic Risk Assessment Reveals Pleiotropy between Sarcoidosis and Inflammatory Disorders in the Context of Genetic ancestry. Genes Immun. 2017 Mar;18(2):88-94. PMID: 28275240 PMCID: 5407914
Lareau CA, Adrianto I, Levin AM, Iannuzzi MC, Rybicki BA, Montgomery CG. Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients. Ann Clin Trans Neurol. 2015 Oct;2(10):972-7. PMID: 26478897 PMCID: 4603380
Bello GA, Adrianto I, Dumancas GD, Levin AM, Innauzzi MC, Rybicki BA, Montgomery C. Role of NOD2 pathway genes in sarcoidosis cases with clinical characteristics of Blau Syndrome. Am J of Resp Crit Care Med. 2015 Nov 1;192(9):1133-5. PMID: 26517420 PMCID: 5447311
Adrianto I, Lin CP, Hale JJ, Levin AM, Datta I, Parker R, Adler A, Kelly JA, Kaufman KM, Lessard CJ, Moser KL, Kimberly RP, Harley JB, Iannuzzi MC, Rybicki BA, Montgomery CG†. Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. PLoS One. 2012;7(8):e43907. PMID: 22952805 PMCID: 3428296
Adrianto I, Wang S, Wiley GB, Lessard CJ, Kelly JA, Adler AJ, Glenn SB, Williams AH, Ziegler JT, Comeau ME, Marion MC, Wakeland BE, Liang C, Kaufman KM, Guthridge JM, Alarcón-Riquelme ME; BIOLUPUS and GENLES Networks; Alarcón GS, Anaya JM, Bae SC, Kim JH, Joo YB, Boackle SA, Brown EE, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martin J, Merrill JT, Niewold TB, Pons-Estel BA, Scofield RH, Stevens AM, Tsao BP, Vyse TJ, Langefeld CD, Harley JB, Wakeland EK, Moser KL, Montgomery CG, Gaffney PM. Association of two independent risk haplotypes in TNIP1 with systemic lupus erythematosus. Arthritis & Rheumatology, November 2012; 64(11):3695-705. PMID: 22833143 PMCID: 3485412
Arthritis & Clinical Immunology Research Program, MS 57
Oklahoma Medical Research Foundation
825 N.E. 13th Street
Oklahoma City, OK 73104
Phone: (405) 271-2648
Fax: (405) 271-2578
Lori Garman, Ph.D.
Associate Staff Scientist
Assistant Director of Infrastructure & Research Computing
Richard Pelikan, Ph.D.
Chuang Li, Ph.D.
Computational Postdoctoral Fellow
Senior Data Analyst
Lindsey Long, Ph.D.
Assistant Staff Scientist
Clinical Research Nurse
Administrative Assistant II
News from the Montgomery lab
The National Institutes of Health has awarded 17 grants worth a total of $14.7 million to OMRF. The grants are part of the $10 billion in economic stimulus funds that will be provided for medical research through the American Recovery and Reinvestment Act of 2009. The grants will fund OMRF research on a wide array […]
The National Institutes of Health has awarded two grants worth a total of $26.3 million to OMRF for research into anthrax and to help train new scientists. Each grant will allow scientists to continue research started in 2004 and 2005 and keep them working through 2014 on several interconnected projects. In the first project, a $14.5 […]
A new wave of researchers has joined the Oklahoma Medical Research Foundation’s scientific staff as part of the foundation’s expansion. OMRF has added seven new scientists to its staff. In addition, two research assistants have been promoted to faculty-level positions. The new researchers have come to OMRF from a variety of institutions across the U.S. […]