GRUPOS DE INVESTIGACIÓN DEL IBBTEC Nombre del grupo: GENOMICA Y BIOINFORMATICA Investigador/a principal : Dr. JESUS SAINZ, Científico Titular CSIC Otro personal: Dr. IGNACIO VARELA Tema de investigación: GENETICA DE POBLACIONES DE ENFERMEDADES COMPLEJAS Financiación: o FUNDACION LEONARDO TORRES QUEVEDO 2010-2011 o MINISTERIO DE EDUCACION 2011-2013 Publicaciones relevantes (últimos 10 años) o J Sainz, S. Gudjonsson, K. Agnarsson, O. Atladottir, U. Benitez, S. Einarsson, E. Gonzalez, O. Traustason, S. Palsson, G. Sigurðsson, A. Kong, K. Stefansson, J. Gulcher (2001). Human physical map version 05 and discrepancies with the UCSC sequence draft assembly. American Journal of Human Genetics 69 (suppl): 467 o G Gudmundsson, SE Matthiasson, H Arason, H Johannsson, F Runarsson, H Bjarnason, K Helgadottir, S Thorisdottir, G Ingadottir, K Lindpaintner, J Sainz, V Gudnason, ML Frigge, A Kong, JR Gulcher, K Stefansson. (2002). Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31. American Journal of Human Genetics 70:586-92 o S Gretarsdottir, S Sveinbjornsdottir, HH Jonsson, F Jakobsson, E Einarsdottir, U Agnarsson, D Shkolny, G Einarsson, HM Gudjonsdottir, Valdimarsson EM, OB Einarsson, G Thorgeirsson, R Hadzic, S Jonsdottir, ST Reynisdottir, SM Bjarnadottir, T Gudmundsdottir, GJ Gudlaugsdottir, R Gill, K Lindpaintner, J Sainz, HH Hannesson, GT Sigurdsson, ML Frigge, A Kong, V Gudnason, K Stefansson, JR Gulcher (2002). Localization of a susceptibility gene for common forms of stroke to 5q12. American Journal of Human Genetics 70:593-603 o A Kong, D Gudbjartsson, J Sainz, G Jonsdottir, S Gudjonsson, B Richardsson, S Sigurdardottir, B Hallbeck, G Masson, A Shlien, S Palsson, ML Frigge, TE Thorgeirsson, JR Gulcher, Kstefansson (2002). A High Resolution Recombination Map of the Human Genome. Nature Genetics 31: 241-7. o H Stefansson, E Sigurdsson, V Steinthorsdottir, S Bjornsdottir, T Sigmundsson, S Ghosh, J Brynjolfsson, S Gunnarsdottir, O Ivarsson, TT Chou, O Hjaltason, B Birgisdottir, H Jonsson, VG Gudnadottir, E Gudmundsdottir, A Bjornsson, B Ingvarsson, A Ingason, S Sigfusson, H Hardardottir, RP Harvey, D Lai, M Zhou, D Brunner, V Mutel, G Acuňa, G Lemke, J Sainz, G Johannesson, T Andresson, D Gudbjartsson, A Manolescu, ML Frigge, ME Gurney, A Kong, JR Gulcher, H Petursson, and K Stefansson (2002). Neuregulin 1 and Susceptibility to Schizophrenia. American Journal of Human Genetics 71:877-892 o A Hicks, H Peturson, T Jonsson, H Stefansson, J Sainz, M L. Frigge, A Kong, JR. Gulcher, K Stefansson (2002). A Susceptibility Gene for Late-onset Idiopatic Parkinson Disease Mapped on Chromosome 1. Annals of Neurology 52:549-555. o A Jonasdottir, T Thorlacius, R Fossdal, K Benediktsson, J Benedikz, HH Jonsson, J Sainz, H Einarsdottir, S Sigurdardottir, G Kristjansdottir, S Sawcer, A Compston, K Stefansson, J Gulcher (2003 ) A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers. Journal of Neuroimmunology. 143:88-92. o A Helgadottir, A Manolescu, G Thorleifsson, S Gretarsdottir, H Jonsdottir, U Thorsteinsdottir, NJ Samani, G Gudmundsson, SF Grant, G Thorgeirsson, S Sveinbjornsdottir, EM Valdimarsson, SE Matthiasson, H Johannsson, O Gudmundsdottir, ME Gurney , J Sainz, M Thorhallsdottir, M Andresdottir, ML Frigge, EJ Topol, A Kong, V Gudnason, H Hakonarson, JR Gulcher, K Stefansson (2004). The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nature Genetics. 36:233-9. o H Stefansson, A Helgason, G Thorleifsson, V Steinthorsdottir, G Masson, J Barnard, A Baker, A Jonasdottir, A Ingason, VG Gudnadottir, N Desnica, A Hicks, A Gylfason, DF Gudbjartsson, GM Jonsdottir, J Sainz, K Agnarsson, B Birgisdottir, S Ghosh, A Olafsdottir, JB Cazier, K Kristjansson, ML Frigge, TE Thorgeirsson, JR Gulcher, A Kong, K Stefansson (2005). A common inversion under selection in Europeans. Nature Genetics. 37:129-37. o J Sainz, P Rovensky, S Gudjonsson, G Thorleifsson, K Stefansson, JR Gulcher. (2006) Segmental duplication density decrease with distance to human-mouse breaks of synteny European Journal of Human Genetics 14:216-21. o A Helgadottir, A Manolescu, A Helgason, G Thorleifsson, U Thorsteinsdottir, D Gudbjartsson. S Grant, J Sainz, SJ O’Brien, SE Matthiasson, AI Levey, JL Abramson, M Reilly, V Vaccarino, M Wolfe, V Gudnason, AA Quyyumi, EJ Topol, DJ Rader, G Thorgeirsson, JR Gulcher, H Hakonarson, A Kong, K StefanssoN (2006) A variant of the gene encoding leukotriene A4 hydrolase confers ethnic specific risk of myocardial infarction. Nature Genetics 38:68-74. o S F.A. Grant, G Thorleifsson, I Reynisdottir, R Benediktsson, A Manolescu, J Sainz, A Helgason, H Stefansson, V Emilsson, A Helgadottir, U Styrkarsdottir, G. B Walters, E Palsdottir, T Jonsdottir, T Gudmundsdottir, A Gylfason, J Saemundsdottir, M P. Reilly, D J. Rader, Y Bagger, C Christiansen, V Gudnason, G Sigurdsson, U Thorsteinsdottir, J R. Gulcher, A Kong, K Stefansson (2006) Variant of the transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genetics 38:320-3. o Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Cazier JB, Sainz J, Jakobsdottir M, Kostic J, Magnusdottir DN, Ghosh S, Agnarsson K, Birgisdottir B, Le Roux L, Olafsdottir A, Blondal T, Andresdottir M, Gretarsdottir OS, Bergthorsson JT, Gudbjartsson D, Gylfason A, Thorleifsson G, Manolescu A, Kristjansson K, Geirsson G, Isaksson H, Douglas J, Johansson JE, Balter K, Wiklund F, Montie JE, Yu X, Suarez BK, Ober C, Cooney KA, Gronberg H, Catalona WJ, Einarsson GV, Barkardottir RB, Gulcher JR, Kong A, Thorsteinsdottir U, Stefansson K (2006) A common variant associated with prostate cancer in European and African populations. Nature Genetics 38:652-8. o Deardorff MA, Sainz J, Grant SF (2011). Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion. BMC Med. 3;9:13. Contacto: Jesús Sainz Instituto de Biomedicina y Biotecnologia de Cantabria (IBBTEC), CSIC-UC-SODERCAN Ave. Cardenal Herrera Oria s/n (Facultad de Medicina) 39011 Santander, Spain Phone (cell): +34-655-437267 Phone (office): +34-942-201577 FAX: +34-942-201945 sainzjv@unican.es