Biomedical Research Education & Training
Faculty Member

Ritchie, Marylyn DeRiggi, Ph.D.
Adjoint Associate Professor of Molecular Physiology and Biophysics

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Phone Number: (615) 343-6549

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Ritchie, Marylyn's picture
Academic history
Ph.D., Vanderbilt
M.S., Vanderbilt
B.S., Univ of Pittsburgh

Office Address   Mailing Address

519-B Light Hall

Ctr for Human Genetics Research 519 Light Hall 37232-0700

Research Keywords
Bioinformatics, Statistical Genetics, Genetic Epidemiology, Pharmacogenomics, Computational Genetics, Cardiovascular Disease, Phychiatric Disorders, Diabetes, HIV, neurological diseases, Alzheimer's disease, Parkinson's disease, depression,Cancer,Genomics,Human Genetics,Neuroscience

Research Specialty
Neurological Diseases/Pharmacogenomics

Research Description
We study various neurological diseases such as Alzheimer's disease, Parkinson's disease, and depression. We not only study the genetic leading to disease, but also pharmacogenomics of neurological disorders. That is, is there a genetic basis behind the variability in patient response to drug treatments.

Graduate students in this laboratory will work on methodological development to facilitate the complex genetic analysis of studies of human disease, such as major depressive illness. Although the methods are not molecular in nature, the data are molecular and the inferences drawn from these studies are about the underlying cellular and molecular biology of the human disease process.

Grady, BJ, Torstenson, ES, McLaren, PJ, DE Bakker, PI, Haas, DW, Robbins, GK, Gulick, RM, Haubrich, R, Ribaudo, H, Ritchie, MD. Use of biological knowledge to inform the analysis of gene-gene interactions involved in modulating virologic failure with efavirenz-containing treatment regimens in art-na??ve actg clinical trials participants. Pac Symp Biocomput, 253-64, 2011 PMCID:2997651

Pendergrass, S, Dudek, SM, Roden, DM, Crawford, DC, Ritchie, MD. Visual integration of results from a large DNA biobank (biovu) using synthesis-view. Pac Symp Biocomput, 265-75, 2011 PMCID:2997651

Ritchie, MD. Using biological knowledge to uncover the mystery in the search for epistasis in genome-wide association studies. Ann Hum Genet, 75(1), 172-82, 2011 PMCID:3012023

Turner, S, Armstrong, LL, Bradford, Y, Carlson, CS, Crawford, DC, Crenshaw, AT, de Andrade, M, Doheny, KF, Haines, JL, Hayes, G, Jarvik, G, Jiang, L, Kullo, IJ, Li, R, Ling, H, Manolio, TA, Matsumoto, M, McCarty, CA, McDavid, AN, Mirel, DB, Paschall, JE, Pugh, EW, Rasmussen, LV, Wilke, RA, Zuvich, RL, Ritchie, MD. Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet, Chapter 1, Unit1.19, 2011

Turner, SD, Dudek, SM, Ritchie, MD. Incorporating Domain Knowledge into Evolutionary Computing for Discovering Gene-Gene Interaction. Lect Notes Comput Sci, 6238(2011), 394-403, 2011 PMCID:2951735

Bush, WS, Dudek, SM, Ritchie, MD. Visualizing SNP statistics in the context of linkage disequilibrium using LD-Plus. Bioinformatics, 26(4), 578-9, 2010 PMCID:2820673

Denny, JC, Ritchie, MD, Crawford, DC, Schildcrout, JS, Ramirez, AH, Pulley, JM, Basford, MA, Masys, DR, Haines, JL, Roden, DM. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation, 122(20), 2016-21, 2010 PMCID:2997651

Dumitrescu, L, Ritchie, MD, Brown-Gentry, K, Pulley, JM, Basford, M, Denny, JC, Oksenberg, JR, Roden, DM, Haines, JL, Crawford, DC. Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med, 12(10), 648-50, 2010 PMCID:2955681

Edwards, TL, Turner, SD, Torstenson, ES, Dudek, SM, Martin, ER, Ritchie, MD. A general framework for formal tests of interaction after exhaustive search methods with applications to MDR and MDR-PDT. PLoS One, 5(2), e9363, 2010 PMCID:2826406

Holzinger, ER, Buchanan, CC, Dudek, SM, Torstenson, EC, Turner, SD, Ritchie, MD. Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects. Genet Evol Comput Conf, 12, 203-210, 2010 PMCID:2997651

Pendergrass, SA, Dudek, SM, Crawford, DC, Ritchie, MD. Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis. BioData Min, 3, 10, 2010 PMCID:3012023

Ritchie, MD, Bush, WS. Genome simulation approaches for synthesizing in silico datasets for human genomics. Adv Genet, 72, 1-24, 2010 PMCID:2997651

Ritchie, MD, Denny, JC, Crawford, DC, Ramirez, AH, Weiner, JB, Pulley, JM, Basford, MA, Brown-Gentry, K, Balser, JR, Masys, DR, Haines, JL, Roden, DM. Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet, 86(4), 560-72, 2010 PMCID:2850440

Turner, SD, Dudek, SM, Ritchie, MD. ATHENA: A knowledge-based hybrid backpropagation-grammatical evolution neural network algorithm for discovering epistasis among quantitative trait Loci. BioData Min, 3(1), 5, 2010 PMCID:2955681

Turner, SD, Dudek, SM, Ritchie, MD. Grammatical Evolution of Neural Networks for Discovering Epistasis among Quantitative Trait Loci. Lect Notes Comput Sci, 6023, 86-97, 2010 PMCID:2880550

Bush, WS, Chen, G, Torstenson, ES, Ritchie, MD. LD-spline: mapping SNPs on genotyping platforms to genomic regions using patterns of linkage disequilibrium. BioData Min, 2(1), 7, 2009 PMCID:2795743

Turner, SD, Crawford, DC, Ritchie, MD. Methods for optimizing statistical analyses in pharmacogenomics research. Expert Rev Clin Pharmacol, 2(5), 559-570, 2009 PMCID:2835152

Bush, WS, Edwards, TL, Dudek, SM, McKinney, BA, Ritchie, MD. Alternative contingency table measures improve the power and detection of multifactor dimensionality reduction. BMC Bioinformatics, 9, 238, 2008 PMCID:2412877

Canter, JA, Haas, DW, Kallianpur, AR, Ritchie, MD, Robbins, GK, Shafer, RW, Clifford, DB, Murdock, DG, Hulgan, T. The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy. Pharmacogenomics J, 8(1), 71-7, 2008

Darbar, D, Kimbrough, J, Jawaid, A, McCray, R, Ritchie, MD, Roden, DM. Persistent atrial fibrillation is associated with reduced risk of torsades de pointes in patients with drug-induced long QT syndrome. J Am Coll Cardiol, 51(8), 836-42, 2008 PMCID:2271078

Pretorius, MM, Gainer, JV, Van Guilder, GP, Coelho, EB, Luther, JM, Fong, P, Rosenbaum, DD, Malave, HA, Yu, C, Ritchie, MD, Vaughan, DE, Brown, NJ. The bradykinin type 2 receptor BE1 polymorphism and ethnicity influence systolic blood pressure and vascular resistance. Clin Pharmacol Ther, 83(1), 122-9, 2008

Schwarz, UI, Ritchie, MD, Bradford, Y, Li, C, Dudek, SM, Frye-Anderson, A, Kim, RB, Roden, DM, Stein, CM. Genetic determinants of response to warfarin during initial anticoagulation. N Engl J Med, 358(10), 999-1008, 2008

Canter, JA, Summar, ML, Smith, HB, Rice, GD, Hall, LD, Ritchie, MD, Motsinger, AA, Christian, KG, Drinkwater, DC, Scholl, FG, Dyer, KL, Kavanaugh-McHugh, AL, Barr, FE. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: A validated genetic association study. Mitochondrion, 7(3), 204-10, 2007 PMCID:1929167

Crawford, DC, Ritchie, MD, Rieder, MJ. Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing. Pharmacogenomics, 8(5), 487-96, 2007

Darbar, D, Motsinger, AA, Ritchie, MD, Gainer, JV, Roden, DM. Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation. Heart Rhythm, 4(6), 743-9, 2007 PMCID:1948880

Motsinger, AA, Brassat, D, Caillier, SJ, Erlich, HA, Walker, K, Steiner, LL, Barcellos, LF, Pericak-Vance, MA, Schmidt, S, Gregory, S, Hauser, SL, Haines, JL, Oksenberg, JR, Ritchie, MD. Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes. Neurogenetics, 8(1), 11-20, 2007

Motsinger, AA, Haas, DW, Hulgan, T, Ritchie, MD. Human genomic association studies: a primer for the infectious diseases specialist. J Infect Dis, 195(12), 1737-44, 2007

Ritchie, MD, Bartlett, J, Bush, WS, Edwards, TL, Motsinger, AA, Torstenson, ES. Exploring epistasis in candidate genes for rheumatoid arthritis. BMC Proc, 1 Suppl 1, S70, 2007 PMCID:2367541

Velez, DR, White, BC, Motsinger, AA, Bush, WS, Ritchie, MD, Williams, SM, Moore, JH. A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction. Genet Epidemiol, 2007

Bush, WS, Dudek, SM, Ritchie, MD. Parallel multifactor dimensionality reduction: a tool for the large-scale analysis of gene-gene interactions. Bioinformatics, 22(17), 2173-4, 2006

Crooke, PS, Ritchie, MD, Hachey, DL, Dawling, S, Roodi, N, Parl, FF. Estrogens, enzyme variants, and breast cancer: a risk model. Cancer Epidemiol Biomarkers Prev, 15(9), 1620-9, 2006

Dudek, SM, Motsinger, AA, Velez, DR, Williams, SM, Ritchie, MD. Data simulation software for whole-genome association and other studies in human genetics. Pac Symp Biocomput, 499-510, 2006

Haas, DW, Geraghty, DE, Andersen, J, Mar, J, Motsinger, AA, D''Aquila, RT, Unutmaz, D, Benson, CA, Ritchie, MD, Landay, A, , . Immunogenetics of CD4 lymphocyte count recovery during antiretroviral therapy: An AIDS Clinical Trials Group study. J Infect Dis, 194(8), 1098-107, 2006

Kallianpur, AR, Hulgan, T, Canter, JA, Ritchie, MD, Haines, JL, Robbins, GK, Shafer, RW, Clifford, DB, Haas, DW. Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy. AIDS, 20(11), 1503-13, 2006

McKinney, BA, Reif, DM, Ritchie, MD, Moore, JH. Machine learning for detecting gene-gene interactions: a review. Appl Bioinformatics, 5(2), 77-88, 2006

Motsinger, AA, Donahue, BS, Brown, NJ, Roden, DM, Ritchie, MD. Risk factor interactions and genetic effects associated with post-operative atrial fibrillation. Pac Symp Biocomput, 584-95, 2006

Motsinger, AA, Lee, SL, Mellick, G, Ritchie, MD. GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease. BMC Bioinformatics, 7, 39, 2006 PMCID:1388239

Motsinger, AA, Ritchie, MD. The effect of reduction in cross-validation intervals on the performance of multifactor dimensionality reduction. Genet Epidemiol, 30(6), 546-55, 2006

Motsinger, AA, Ritchie, MD. Multifactor dimensionality reduction: An analysis strategy for modelling and detecting gene-gene interactions in human genetics and pharmacogenomics studies. Hum Genomics, 2(5), 318-28, 2006

Motsinger, AA, Ritchie, MD, Dobrin, SE. Clinical applications of whole-genome association studies: future applications at the bedside. Expert Rev Mol Diagn, 6(4), 551-65, 2006

Motsinger, AA, Ritchie, MD, Shafer, RW, Robbins, GK, Morse, GD, Labbe, L, Wilkinson, GR, Clifford, DB, D''Aquila, RT, Johnson, VA, Pollard, RB, Merigan, TC, Hirsch, MS, Donahue, JP, Kim, RB, Haas, DW. Multilocus genetic interactions and response to efavirenz-containing regimens: an adult AIDS clinical trials group study. Pharmacogenet Genomics, 16(11), 837-45, 2006

Ritchie, MD, Haas, DW, Motsinger, AA, Donahue, JP, Erdem, H, Raffanti, S, Rebeiro, P, George, AL, Kim, RB, Haines, JL, Sterling, TR. Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. Clin Infect Dis, 43(6), 779-82, 2006

Takahashi, H, Wilkinson, GR, Nutescu, EA, Morita, T, Ritchie, MD, Scordo, MG, Pengo, V, Barban, M, Padrini, R, Ieiri, I, Otsubo, K, Kashima, T, Kimura, S, Kijima, S, Echizen, H. Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans. Pharmacogenet Genomics, 16(2), 101-110, 2006

Bush, W.S., Motsinger A.A., Dudek, S.M., Ritchie, M.D. Can neural network constraints in GP provide power to detect genes associated with human disease?. Lecture Notes in Computer Science, 3449, 44-53, 2005

Hulgan, T, Haas, DW, Haines, JL, Ritchie, MD, Robbins, GK, Shafer, RW, Clifford, DB, Kallianpur, AR, Summar, M, Canter, JA. Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study. AIDS, 19(13), 1341-9, 2005

Hulgan, T., Haas, D.W., Haines, J.L., Ritchie, M.D., Robbins, G.K., Shafer, R.W., Clifford, D.B., Kallianpur, A., Summar, M., Canter, J.A. Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an Adult AIDS Clinical Trials Group Study. AIDS(in press), 2005

McKinney, B., Ritchie, M.D., Moore, J.H.. Machine learning for detecting gene-gene interactions. Applied Bioinformatics(in press), 2005

Ritchie, MD. Bioinformatics approaches for detecting gene-gene and gene-environment interactions in studies of human disease. Neurosurg Focus, 19(4), E2, 2005

Ritchie, MD. Trends in genomic variation: a view of some of the latest technologies. Drug Discov Today, 10(21), 1417-8, 2005

Ritchie, MD, Motsinger, AA. Multifactor dimensionality reduction for detecting gene-gene and gene-environment interactions in pharmacogenomics studies. Pharmacogenomics, 6(8), 823-34, 2005

Ritchie, Marylyn D, Carillo, Michelle W, Wilke, Russell A. Computational approaches for pharmacogenomics. Pac Symp Biocomput, 245-7, 2005

Soares ML, Coelho T, Sousa A, Batalov S, Conceicao I, Sales-Luis ML, Ritchie MD, Williams SM, Nievergelt CM, Schork NJ, Saraiva MJ, Buxbaum JN. Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet., 14(4)(Feb 15), 543-53, 2005

Wilke RA, Carrillo MW, Ritchie MD. Pacific symposium on biocomputing - computational approaches for pharmacogenomics. Pharmacogenomics, 2(6), 111-3, 2005

Shin NY, Dise RS, Schneider-Mergener J, Ritchie MD, Kilkenny DM, Hanks SK.. Subsets of the major tyrosine phosphorylation sites in Crk-associated substrate (CAS) are sufficient to promote cell migration. . J Biol Chem., 279(37), 38331-7., 2004

Cho, Y. M., Ritchie, M. D., Moore, J. H., Park, J. Y., Lee, K.-U., Shin, H. D., Lee, H. K., Park, K. S.. Multifactor-dimensionality reduction shows a two-locus interaction associated with Type 2 diabetes mellitus. Diabetologia, 2004

Cho,Y.M., Ritchie, M.D., Moore, J.H., Moon, M.K., Lee, Y.Y, Yoon, K.H., Sung, Y.A., Lang, H.C., Park, J.Y., Lee, K.U., Shin, H.D., Kim, S.Y., Lee, H.K., Park, K.S.. Multifactor Dimensionality Reduction Reveals a Two-Locus Interaction Associated with Type 2 Diabetes Mellitus.. Diabetologia(47), 549-554, 2004

Coffey, C.S., Hebert, P.R., Ritchie, M.D., Krumholz, H.M., Morgan, T.M., Gaziano, J.M., Ridker, P.M., and Moore, J.H. An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: The importance of model validation.. BMC Bioinformatics(5), 49, 2004

Moore JH, Ritchie MD.. The challenges of whole-genome approaches to common diseases.. JAMA, 291(13), 1642-3, 2004

Moore, J.H., Hahn, L.W., Ritchie, M.D., Thornton, T.A., White, B.. Routine Discovery of High-Order Epistasis Models for Computational Studies in Human Genetics.. Applied Soft Computing(4), 79-86, 2004

Moore, Jason H, Ritchie, Marylyn D. STUDENTJAMA. The challenges of whole-genome approaches to common diseases. JAMA, 291(13), 1642-3, 2004

Ritchie, M.D., Coffey, C.S., and Moore J.H. Genetic Programming Neural Networks: A Bioinformatics Tool for Human Genetics. Genetic Programming Neural Networks: A Bioinformatics Tool for Human Genetics. Lecture Notes in Computer Science(3102), 438-448, 2004

Shin, Nah-Young, Dise, Rebecca S, Schneider-Mergener, Jens, Ritchie, Marylyn D, Kilkenny, Dawn M, Hanks, Steven K. Subsets of the major tyrosine phosphorylation sites in Crk-associated substrate (CAS) are sufficient to promote cell migration. J Biol Chem, 279(37), 38331-7, 2004

Tsai CT, Lai LP, Lin JL, Chiang FT, Hwang JJ, Ritchie MD, Moore JH, Hsu KL, Tseng CD, Liau CS, Tseng YZ.. Renin-angiotensin system gene polymorphisms and atrial fibrillation.. Circulation, 109(13), 1640-6, 2004

Vanhoose, Amanda M, Ritchie, Marylyn D, Winder, Danny G. Regulation of cAMP levels in area CA1 of hippocampus by Gi/o-coupled receptors is stimulus dependent in mice. Neurosci Lett, 370(1), 80-3, 2004

Williams, Scott M, Ritchie, Marylyn D, Phillips, John A, Dawson, Elliot, Prince, Melissa, Dzhura, Elvira, Willis, Alecia, Semenya, Amma, Summar, Marshall, White, Bill C, Addy, Jonathan H, Kpodonu, John, Wong, Lee-Jun, Felder, Robin A, Jose, Pedro A, Moore, Jason H. Multilocus analysis of hypertension: a hierarchical approach. Hum Hered, 57(1), 28-38, 2004

Hahn, Lance W, Ritchie, Marylyn D, Moore, Jason H. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics, 19(3), 376-82, 2003

Moore, JH, Thornton, TA, Ritchie, MD. Basic statistics. Curr Protoc Hum Genet, Appendix 3, Appendix 3M, 2003

Ritchie, Marylyn D, Hahn, Lance W, Moore, Jason H. Power of multifactor dimensionality reduction for detecting gene-gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity. Genet Epidemiol, 24(2), 150-7, 2003

Ritchie, Marylyn D, White, Bill C, Parker, Joel S, Hahn, Lance W, Moore, Jason H. Optimization of neural network architecture using genetic programming improves detection and modeling of gene-gene interactions in studies of human diseases. BMC Bioinformatics, 4(1), 28, 2003 PMCID:183838

Donaldson, John C, Dise, Rebecca S, Ritchie, Marylyn D, Hanks, Steven K. Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J Biol Chem, 277(32), 29028-35, 2002

Moore J.H., Hahn L.W., Ritchie M.D., Thornton T.A., White B.C.. Application of genetic algorithms to the discovery of complex genetic models for simulation studies in human genetics. In: Langdon WB, Cantu-Paz E, Mathias K, Roy R, Davis D, Poli R, Balakrishnan K, Honavar V, Rudolph G, Wegener J, Bull L, Potter MA, Schultz AC, Miller JF, Burke E, and Jonoska N, eds.. Genetic and Evolutionary Computation Conference, Morgan Kaufmann Publishers, San Francisco, 1150-55, 2002

Ritchie, M D, Hahn, L W, Roodi, N, Bailey, L R, Dupont, W D, Parl, F F, Moore, J H. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet, 69(1), 138-47, 2001 PMCID:1226028

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