Marta E Alarcon-Riquelme

Summary

Affiliation: Uppsala University
Country: Sweden

Publications

  1. pmc An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels
    Rami Nassir
    Rowe Program in Human Genetics, Departments of Biochemistry and Medicine, University of California Davis, Davis, CA 95616, USA
    BMC Genet 10:39. 2009
  2. ncbi request reprint The genetics of systemic lupus erythematosus
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden
    J Autoimmun 25:46-8. 2005
  3. ncbi request reprint The genetics of shared autoimmunity
    Marta E Alarcon-Riquelme
    Department of Medical Genetics, Uppsala University, Sweden
    Autoimmunity 38:205-8. 2005
  4. ncbi request reprint The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden
    Springer Semin Immunopathol 28:109-17. 2006
  5. ncbi request reprint Recent advances in the genetics of autoimmune diseases
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
    Ann N Y Acad Sci 1110:1-9. 2007
  6. pmc Role of RUNX in autoimmune diseases linking rheumatoid arthritis, psoriasis and lupus
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, Sweden
    Arthritis Res Ther 6:169-73. 2004
  7. ncbi request reprint Finding genes for SLE: complex interactions and complex populations
    Marta E Alarcon-Riquelme
    Unit for Medical Genetics, Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Dag Hammarskjölds väg 20, Uppsala 75185, Sweden
    J Autoimmun 21:117-20. 2003
  8. ncbi request reprint Functional genomics in the study of autoimmune diseases
    Marta E Alarcon-Riquelme
    Institute of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85 Uppsala, Sweden
    Autoimmun Rev 2:177-80. 2003
  9. doi request reprint Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
    Sergey V Kozyrev
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala 75185, Sweden
    Nat Genet 40:211-6. 2008
  10. doi request reprint Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells
    Sara E Löfgren
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 75185, Uppsala, Sweden
    J Rheumatol 37:574-8. 2010

Collaborators

Detail Information

Publications26

  1. pmc An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels
    Rami Nassir
    Rowe Program in Human Genetics, Departments of Biochemistry and Medicine, University of California Davis, Davis, CA 95616, USA
    BMC Genet 10:39. 2009
    ..Previously, we described a panel of 128 SNP AIMs that were designed as a tool for ascertaining the origins of subjects from Europe, Sub-Saharan Africa, Americas, and East Asia...
  2. ncbi request reprint The genetics of systemic lupus erythematosus
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden
    J Autoimmun 25:46-8. 2005
    ..These studies pose new challenges but also new possibilities. I hereby review what is known to date on lupus genetics and what challenges we are to overcome with the new available methods...
  3. ncbi request reprint The genetics of shared autoimmunity
    Marta E Alarcon-Riquelme
    Department of Medical Genetics, Uppsala University, Sweden
    Autoimmunity 38:205-8. 2005
    ..This article briefly describes the most recent advances in the genetics of autoimmunity and the novel genes discovered...
  4. ncbi request reprint The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden
    Springer Semin Immunopathol 28:109-17. 2006
    ..We are just beginning to comprehend and much needs to be done...
  5. ncbi request reprint Recent advances in the genetics of autoimmune diseases
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
    Ann N Y Acad Sci 1110:1-9. 2007
    ..The real challenge comes when we try to understand the mechanisms through which these genes confer disease susceptibility and how the interaction with environment takes place such that clinical expression of the disease results...
  6. pmc Role of RUNX in autoimmune diseases linking rheumatoid arthritis, psoriasis and lupus
    Marta E Alarcon-Riquelme
    Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, Sweden
    Arthritis Res Ther 6:169-73. 2004
    ....
  7. ncbi request reprint Finding genes for SLE: complex interactions and complex populations
    Marta E Alarcon-Riquelme
    Unit for Medical Genetics, Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Dag Hammarskjölds väg 20, Uppsala 75185, Sweden
    J Autoimmun 21:117-20. 2003
    ....
  8. ncbi request reprint Functional genomics in the study of autoimmune diseases
    Marta E Alarcon-Riquelme
    Institute of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85 Uppsala, Sweden
    Autoimmun Rev 2:177-80. 2003
    ..Elegans. The time has come for their use in human genome research and there is hope that the new technologies and possibilities will provide with new knowledge on disease pathogenesis and the development of new drugs...
  9. doi request reprint Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
    Sergey V Kozyrev
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala 75185, Sweden
    Nat Genet 40:211-6. 2008
    ..The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease...
  10. doi request reprint Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells
    Sara E Löfgren
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 75185, Uppsala, Sweden
    J Rheumatol 37:574-8. 2010
    ..We examined the genetic association of the promoter insertion/deletion (indel) in IRF5 gene with systemic lupus erythematosus (SLE) in distinct populations and assessed its role in gene expression...
  11. ncbi request reprint A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans
    Ludmila Prokunina
    Institute of Genetics and Pathology, Section for Medical Genetics, Rudbeck Laboratories, University of Uppsala, Dag Hammarsjölds väg 20, 751 85, Uppsala, Sweden
    Nat Genet 32:666-9. 2002
    ....
  12. pmc A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31
    Bo Johanneson
    Institute of Genetics and Pathology, Section for Medical Genetics, University of Uppsala, Uppsala, Sweden
    Am J Hum Genet 71:1060-71. 2002
    ..Analysis of a known mutation in the CD45 gene did not support the role that this mutation plays in disease. We conclude that the locus at 1q31 contains a major susceptibility gene, important to SLE in general populations...
  13. doi request reprint A 3'-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus
    Sara E Löfgren
    Uppsala University, Uppsala, Sweden
    Arthritis Rheum 62:3404-14. 2010
    ..This study was undertaken to investigate the genetic association of CD226 with susceptibility to systemic lupus erythematosus (SLE) and to assess the functional implications of this association...
  14. doi request reprint Lower expression levels of the programmed death 1 receptor on CD4+CD25+ T cells and correlation with the PD-1.3A genotype in patients with systemic lupus erythematosus
    Helga Kristjansdottir
    Uppsala University, Uppsala, Sweden
    Arthritis Rheum 62:1702-11. 2010
    ..3A genotype...
  15. pmc Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein
    Angelica M Delgado-Vega
    Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, 751 85, Sweden
    Ann Rheum Dis 71:1219-26. 2012
    ..To perform fine mapping of the autoimmunity susceptibility gene BLK and identify functional variants involved in systemic lupus erythematosus (SLE)...
  16. ncbi request reprint Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort
    Donato Alarcon-Segovia
    University of Uppsala, Uppsala, Sweden
    Arthritis Rheum 52:1138-47. 2005
    ..To determine whether there is familial aggregation of systemic lupus erythematosus (SLE) and/or other autoimmune diseases in SLE patients and to identify clinical differences between patients with and those without familial autoimmunity...
  17. ncbi request reprint Regulatory SNPs in complex diseases: their identification and functional validation
    Ludmila Prokunina
    Department of Genetics and Pathology, Section for Medical Genetics, Rudbeck Laboratory, Uppsala University, 751 85, Uppsala, Sweden
    Expert Rev Mol Med 6:1-15. 2004
    ..This article discusses the nature of regulatory SNPs (rSNPs) and techniques for their functional validation, and looks towards what rSNPs can tell us about complex diseases...
  18. pmc Genetic associations in type I interferon related pathways with autoimmunity
    Angelica M Delgado-Vega
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, Uppsala, Sweden
    Arthritis Res Ther 12:S2. 2010
    ....
  19. ncbi request reprint Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus
    Sergey V Kozyrev
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden, and Odense University Hospital, Denmark
    Arthritis Rheum 56:1234-41. 2007
    ..To determine whether specific isoforms of IRF5 are transcribed in patients with systemic lupus erythematosus (SLE) who have risk genotypes in the exon 1B donor splice site at single-nucleotide polymorphism (SNP) no. rs2004640...
  20. ncbi request reprint IgG Fc receptor polymorphisms and association with autoimmune disease
    Maria Andrén
    Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden
    Eur J Immunol 35:3020-9. 2005
    ..These data demonstrate for the first time a genetic polymorphism of Fc gammaRIII in mice that may, together with C5, regulate induction of autoimmune disease...
  21. ncbi request reprint Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans
    M V Prasad Linga Reddy
    Department of Genetics and Pathology, Uppsala University, Dag Hammarsjkölds väg 20, 751 85 Uppsala, Sweden
    Hum Genet 121:721-7. 2007
    ....
  22. doi request reprint PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6
    Nina Y Oparina
    Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
    Ann Rheum Dis 74:e14. 2015
    ..To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease...
  23. pmc Recent findings on genetics of systemic autoimmune diseases
    Angélica Delgado-Vega
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarsjölds väg 20, 751 85 Uppsala, Sweden
    Curr Opin Immunol 22:698-705. 2010
    ..While most genes are shared between diseases, few seem to be unique reflecting that we still are long before knowing all genes, their interactions with other genes and the environment and their impact on biological functions...
  24. doi request reprint Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome
    Hong Yin
    Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
    Arthritis Rheum 60:2468-71. 2009
    ..The aim of this study was to investigate whether the analysis of SLE susceptibility genes may provide at least a partial explanation for such a discrepancy...
  25. ncbi request reprint The genetics and biology of Irf5-mediated signaling in lupus
    Sergey V Kozyrev
    Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala, Sweden
    Autoimmunity 40:591-601. 2007
    ..Here, we present the current knowledge on IRF5 genetics and its biological function and discuss the possible ways in which IRF5 contributes to susceptibility to SLE...
  26. ncbi request reprint Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus
    Cecilia M Johansson
    Department of Genetics and Pathology, Unit for Medical Genetics, Rudbeck Laboratory, University of Uppsala, Dag Hammarskjölds väg 20, Uppsala, Sweden
    Hum Genet 115:230-8. 2004
    ..Several other interesting regions were found at 1p35, 1q31, 3q26, 5p15, 11q23 and 19q13, confirming previously identified loci for SLE or other autoimmune diseases...