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Functional Genomics Unit

Laboratory 2

The genetic polymorphisms are variants of the genome that appear by mutation in some individuals. These are transmitted to the descendants and acquire a certain frequency in the population after multiple generations. It has been estimated that there is one variant for every thousand base pairs of the 3000 million that constitute the human genome. The polymorphisms are the primary elements of the evolution; those that consolidate can be silent or can provide advantages to the individuals, although they can also contribute to diseases.

The main objective of our research group is the identification and validation of genetic variants implicated in common human complex diseases, in collaboration with national and international medical researchers.

Most of the projects carried out in the laboratory

  • use high-throughput genotyping or sequencing techniques for examining complete genomes of patients and control individuals to identify genetic variants
  • help to develop bioinformatics tools for the efficient study of the polymorphisms associated with the susceptibility to a particular disease
  • supply biological interpretation of the results by testing the functionality of the identified genes, examining their involvement in the aetiology of diseases and their possible mechanism of action

The identification of new diagnostic methods for early stages of certain diseases and of possible targets for the specific drug generation is of great importance for the development of successful treatment of many serious human disorders. Our laboratory is leading a project for the detailed genetic characterization of the Basque population in relation to the high incidence of some inherited diseases in this isolated population. We are the group responsible for the Genetics Work-Package within the COEDUCA (Cognition and Education) Consolider-Ingenio 2010 CSD2008-00048 project.

We are also participating in several collaborative projects:

  • high density genotyping in the region 6p21 for the identification of polymorphisms associated to the susceptibility to Type 1 Diabetes mellitus
    • identification of new genes associated with Monogenic Diabetes
  • high-throughput genotyping of the MHC (6p21) and LCR (19q3.4) regions in HLA-B27 populations in order to spot genetic variants associated with Ankylosing Spondylitis
  • SNP analysis and haplotype structure of cytokine gene clusters in Multiple Sclerosis patients
  • genetic polymorphisms association study with Alzheimer Disease by means of high-throughput SNP genotyping
  • system biology of Non Alcoholic Fatty Liver diseases
  • clinical validation of genetic tests for the evaluation and therapy selection in colorectal patients (COLOGENETICS)
  • EDGeS - Enabling Desktop Grids for e-Science (Grant from the European Commission's FP7 IST Capacities programme under grant agreement RI-2117279



Quotations for genotyping, transcriptomics, methylation analysis or sequencing services can be requested at our Genome Analysis Platform Services Website.


For more information also see Genome Analysis Group web pages.


Would you like to join us?
Consolider COEDUCA offers a series of research grants, one of which will fund a PhD position in our laboratory.

For more information click COEDUCA
For other positions currently available please check jobs section in the CIC bioGUNE home page.

COLLABORATIONS

  • Dr. L. Castaño, Dr. J. R. Bilbao and Dr. G. Pérez de Nanclares (Cruces Hospital, Bizkaia)
  • Dr. A. Antigüedad and Dr. J. M. Uterga (Basurto Hospital, Bizkaia)
  • Dr. C. López Larrea (Hospital Universitario Central de Asturias, Asturias)
  • Dr. K. Vandenbroeck and Dr. C. Matute (Basque Country University)
  • Dr. M. Carreiras (La Laguna University, Tenerife, Canary Island)
  • Dr. J.M. Mato & M.L. Martínez (CIC bioGUNE, Bizkaia)
  • G. Carasa (CIC bioGUNE, Bizkaia)
  • Dr. J. Falcón (CIC bioGUNE, Bizkaia)
  • BIOEF foundation
  • OWL Genomics S.L.
  • Pharmakine S.L.
  • AMPTEC S.L.
  • Atos Origin S.L.

Principal Investigator

Ana María Aransay Bañares
  • Email: amaransay@cicbiogune.es
  • Phone: 944 061 325 (EXT.4421)
  • Address: Parque Tecnológico de Vizcaya
    Ed. 502 Derio (Vizcaya)
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Laboratory members

Iñaki Mendibil

Technician

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Karin Schlangen

Postdoctoral Researcher

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Publications

Rodríguez-Ezpeleta N, Álvarez-Busto J, Imaz L, Regueiro M, Azcárate M, Bilbao R, Iriondo M, Gil A, Estonba A, Aransay AM; High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations. Hum Genet 128, 113-117 (2010)


Aransay, A.M., Matthiesen, R. and Regueiro M.M.; High throughput SNP discovery pipeline. Bioinformatics Methods in Clinical Research. Series: Methods in Molecular Biology (Humana Press Inc.) 593, (2010)


Otaegui D., Zuriarrain O., Castillo-Triviño T., Ruíz-Martinez J., Aransay A.M., Olaskoaga J., Marti-Masso J.F. and Lopez de Munain A. ; Association between SYNAPSIN III gene promoter SNPs and multiple sclerosis in Basque patients. Multiple Sclerosis Journal 15, 1 124-8 (2009)


Santin, I., Castellanos-Rubio, A., Aransay, A.M., Gutierrez, G., Gaztambide, S., Rica, I., Vicario, J.L., Noble, J.A., Castaño, L. and Bilbao, J.R.; Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA.. Genes and Immunity 10, 6 596-600 (2009)


Hackenberg, M., Sturm, M., Langenberger, D., Falcón-Pérez, J.M. and Aransay, A.M.; miRanalyzer: a microRNA detection and analysis tool for next-generation sequencing experiments. Nucl. Acids Res. 37, W68-W76 (2009)


Castellanos-Rubio, A., Martin-Pagola, A., Santín, I., Hualde, I., Aransay, A.M., Castaño, L., Vitoria, J.C. and Bilbao, J.R.; Combined functional and positional genetic information for the identification of susceptibility genes in celiac disease. J. Gastroenterology 134, 3 738-746 (2008)


Santín, I., Castellanos-Rubio, A., Aransay, A.M., Castaño, L., Vitoria, J.C. and Bilbao, J.R.; The functional R620W variant of the PTPN22 gene is associated with celiac disease. Tissue Antigens 71, 3 247-9 (2008)


Martínez-Chantar M.L., Vázquez-Chantada M., Ariz U., Martínez N., Varela M., Luka Z., Capdevila A., Rodriguez J., Aransay A.M., Matthiesen R., Yang H., Calvisi D.F., Esteller M,. Fraga M., Lu S.C., Wagner C., Mato J.M.; Loss of the Glycine N-Methyltransferase Gene Leads to Steatosis and Hepatocellular Carcinoma in Mice. Hepatology 47, 4 1191-9 (2008)


Castellanos-Rubio, A., Martin-Pagola, A., Santín, I., Hualde, I., Aransay, A.M., Castaño, L., Vitoria, J.C. and Bilbao, J.R.; Reply to Letter (No Evidence in a Large UK Collection for Celiac Disease Risk Variants Reported by a Spanish Study). Gastroenterology 134, 1630-1631 (2008)


O´Doherty, C., Roos, I., Antiguedad, A., Aransay, A.M., Carulli, J., Hillert, J. and Vandenbroeck, K.; ITGA4 polymorphisms and susceptibility to multiple sclerosis. Journal of Neuroimmunology 189 (1-2), 151-157 (2007)