Oklahoma Medical Research Foundation (OMRF) - Alarcón-Riquelme, Marta E.

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Our Lab

Our group has been working on the genetics of lupus for over 15 years. We have identified several genes for lupus, such as PDCD1 and BANK1, and we have also contributed to the better understanding of the mechanisms in which the gene variants affect gene function, a field in which we have gained experience.

The last few years have witnessed an explosion of data where genes for several common diseases have been identified. This data can now be exploited fully to understand the mechanisms in which the genes function or interact to lead to a disease.

The aim of our research is precisely to understand those interactions and translate them into biologically relevant information that we can test experimentally.

We are also focusing on less-studied populations, in particular Hispanics. Hispanics with lupus have a very severe disease and usually develop kidney inflammation, one of the major complications of lupus. We aim to understand if the mixture of European and Native American and/or Amerindian genetic variation may predispose these individuals to a higher risk of developing a more severe clinical picture.

Education
M.D., Escuela Mexicana de Medicina, Universidad LaSalle and Universidad Nacional Autónoma de México,
Mexico City, Mexico, 1985
Ph.D., Stockholm University, Sweden, 1994

Honors and Awards
1980 Scholarship for medical studies, UNAM, Mexico
1985-1987 Research fellow, Department of Immunology and Rheumatology, Instituto Nacional de la Nutrición, Mexico
1984 Consejo Nacional de Ciencia y Tecnología, México, award for doctoral studies abroad
1992 Namowitsky fellowship
1994-1996 Postdoctoral fellow, Department of Medical Genetics, BMC, Uppsala University, Sweden
1999, 2001-2002 Graduate school student director, Genome Program, Swedish Foundation for Strategic Research
2004-2009 Researcher, Royal Academy of Sciences (KVA), Sweden (in competition)
2006-2008 Honorary Principal Investigator, Pasteur Institute of Montevideo, Uruguay
2008-2009 Esther Z. Greenberg Scholar, Oklahoma Medical Research Foundation
2009-2011 Professor in Genetic Epidemiology of Inflammatory Diseases

Other Activities
Member, editorial boards for Genes and Immunity, Journal of Autoimmunity, Autoimmunity and Arthritis & Rheumatism
Ad-hoc referee for Rheumatology, Genes & Immunity, American Journal of Human Genetics, Human Genetics,
Arthritis & Rheumatism, Nature Genetics and Cell
Grant evaluator for several European Funding agencies
Member, SLEGEN Consortium and the Nordic Center of Excellence in Genetics, awarded by the Nordic Council of Ministers and the Wallenberg Foundation

Joined OMRF Scientific Staff in 2009.

The identification of genes for lupus will lead to a better understanding of disease pathogenesis. My group has been working for several years in the identification of new genes for lupus. Within the various genes for lupus known to date, we identified PDCD1 and BANK1. These studies include the understanding of the functional basis of the variants or mutations underlying lupus susceptibility. Thus, we study in detail the new susceptibility genes to determine if functional variation in each gene affects gene expression or splicing or might have other consequences on gene function.

However most genetic risks identified to date have very small individual effects on the lupus phenotype. Whether gene-gene interactions might underlie major effects on the risk to develop lupus is one of the goals of our research. Further, we take a step forward and ask ourselves if the genetic interactions reflect true biological processes, and we investigate if the interacting genes code for proteins that may bind to each other or interact functionally in the same biological process.

A second goal in our studies is to identify susceptibility genes of Amerindian origin (Native American or Native Latin American) in individuals of Hispanic ancestry. Hispanics develop at times a severe lupus with many clinical complications and understanding how ancestry and admixture contributes to development of the disease is part of our studies.

For our studies, we count with numerous national and international collaborations that have provided us with an extensive resource of samples.

Recent Publications

* Kim K, Brown EE, Choi CB, Alarcón-Riquelme ME, on behalf of BIOLUPUS, Kelly JA, Glenn SB, Ojwang JO, Adler A, Lee HS, Boackle SA, Criswell LA, Alarcon GS, Edberg JC, Stevens AM, Jacob CO, Gilkeson GS, Kamen DL, Tsao BP, Anaya JM, Guthridge JM, Nath SK, Richardson B, Sawalha AH, Kang YM, Shim SC, Suh CH, Lee SK, Kim CS, Merrill JT, Petri M, Ramsey-Goldman R, Vila LM, Niewold TB, Martin J, Pons-Estel BA, on behalf of GENLES, Vyse TJ, Freedman BI, Moser KL, Gaffney PM, Williams A, Comeau M, Reveille JD, James JA, Scofield RH, Langefeld CD, Kaufman KM, Harley JB, Kang C, Kimberly RP, Bae SC. Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries. Ann Rheum Dis 2012. [Abstract] EPub

* Wang S, Adrianto I, 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, on behalf of the BIOLUPUS and GENLES Networks, Alarcon GS, Anaya JM, Bae SC, Kim JH, Joo YB, Boackle SA, Brown EE, Petri MA, Ramsey-Goldman R, Reveille JD, Vila 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. A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus. Genes Immun 2012. [Abstract] EPub

* Lessard CJ, Adrianto I, Ice JA, Wiley GB, Kelly JA, Glenn SB, Adler AJ, Li H, Rasmussen A, Williams AH, Ziegler J, Comeau ME, Marion M, Wakeland BE, Liang C, Ramos PS, Grundahl KM, Gallant CJ, Marta E.Alarcon-Riquelme for the BIOLUPUS and GENLES Networks, Alarcon GS, Anaya JM, Bae SC, Boackle SA, Brown EE, Chang DM, Cho SK, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Kim JH, Martin J, Merrill JT, Niewold TB, Park SY, Petri MA, Pons-Estel BA, Ramsey-Goldman R, Reveille JD, Scofield RH, Song YW, Stevens AM, Tsao BP, Vila LM, Vyse TJ, Yu CY, Guthridge JM, Kaufman KM, Harley JB, Wakeland EK, Langefeld CD, Gaffney PM, Montgomery CG, Moser KL. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study. Am J Hum Genet 90:648-660, 2012. [Abstract]

Selected Publications
Sanchez E, Webb RD, Rasmussen A, Kelly JA, Riba L, Kaufman KM, Garcia de la Torre I, Moctezuma JF, Maradiaga-Ceceña MA, Cardiel-Rios MH, Acevedo E, Cucho-Venegas M, Garcia MA, Gamron S, Pons-Estel BA, Vasconcelos C, Martin J, Tusié-Luna T, Harley JB, Richardson B, Sawalha AH, Alarcón-Riquelme ME. Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum 62:3722-3729, 2010. [Abstract]

Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D’Alfonso S, Barizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 40:211-216, 2008. [Abstract]

Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF; Argentine and Spanish Collaborative Groups, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-Riquelme ME. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 38:550-555, 2006. [Abstract]

Alarcón-Riquelme ME. A RUNX trio with a taste for autoimmunity. Nat Genet 35:299-300, 2003. [Abstract]

Prokunina L, Castillejo-López C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdóttir H, Gröndal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jönssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcón-Segovia D, Steinsson K, Alarcón-Riquelme ME. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32:666-669, 2002. [Abstract]

Marta E. Alarcón-Riquelme, M.D., Ph.D.

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