El grup estudia diferents aspectes de la diversitat genètica humana, inclosos tant l’arquitectura de la predisposició genètica a malalties complexes com la de l’adaptació humana. Amb aquesta finalitat, analitzem dades genòmiques de casos i controls o de poblacions geogràficament diverses, i apliquem diferents mètodes d’associació de variants rares i de detecció de selecció. Fent servir prediccions in silico, tècniques de biologia molecular i dades fenotípiques, el grup de Genètica evolutiva de poblacions pretén elucidar les variants genètiques i els fenotips moleculars que es troben en la base funcional de diverses adaptacions humanes.

Pàgina web: Bosch Lab

Investigador principal Investigador principal

Membres del grup Membres del grup

Projectes en curs Projectes en curs

Publicacions Publicacions

Muntané G, Farré X, Bosch E, Martorell L, Navarro A, Vilella E. 2021. The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. Human Genetics, 140(3):441–455. DOI: 10.1007/s00439-020-02213-8


Garcia-Ruiz B, de Moura MC, Muntané G, Martorell L, Bosch E, Esteller M, J Canales-Rodríguez E, Pomarol-Clotet E, Jiménez E, Vieta E, Vilella E. 2021. DDR1 methylation is associated with bipolar disorder and the isoform expression and methylation of myelin genes. Epigenomic, 13(11):845-858. DOI: 10.2217/epi-2021-0006. 


Font-Porterias N, Caro-Consuegra R, Lucas-Sánchez M, Lopez M, Giménez A, Carballo A, Bosch E, Calafell F, Quintana-Murci L, Comas D. 2021. The counteracting effects of demography on functional genomic variation: the Roma paradigm. Molecular Biology and Evolution, 38(7):2804-2817. DOI: 10.1093/molbev/msab070. 


Casadó-Llombart S, Velasco-de Andrés M, Català C, Leyton-Pereira A, Lozano F, Bosch E. 2021. Contribution of Evolutionary Selected Immune Gene Polymorphism to Immune-Related Disorders: The Case of Lymphocyte Scavenger Receptors CD5 and CD6. International Journal of Molecular Sciences, 22(10):5315. DOI:10.3390/ijms22105315


Walsh S, Izquierdo-Serra M, Acosta S, Edo A, Lloret M, Moret R, Bosch E, Oliva B, Bertranpetit J, Fernández-Fernández JM. 2020. Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population. Scientific Reports, 10(1):1-16. DOI:10.1038/s41598-020-78081-z


Gil-Varea E, Fedetz M, Eixarch H, Spataro N, Villar LM, Urcelay E, Saiz A, Fernández Ó, Leyva L, Ramió-Torrentà L, Vandenbroeck K, Otaegui D, Castillo-Triviño T, Izquierdo G, Malhotra S, Bosch E, Navarro A, Alcina A, Montalban X, Matesanz F, Comabella M. 2020. A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells. Journal of Clinical Medicine, 9(3):625. DOI: 10.3390/jcm9030625


Gil-Varea E; Spataro N; Villar L.M.; Tejeda-Velarde A.; Midaglia L.; Matesanz F.; Malhotra S.; Eixarch H.; Patsopoulos N.; Fernández Ó.; Oliver-Martos B.; Saiz A. Llufriu S.; Ramió-Torrentà L.; Quintana E.; Izquierdo G.; Alcina A.; Bosch E.; Navarro A.; Montalban X.; Comabella M. 2020. Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.. Human Mutation. doi: 10.1002/humu.24016


Dobon B, Ter Horst R, Laayouni H, Mondal M, Bianco E, Comas D, Ioana M, Bosch E, Bertranpetit J, Netea MG. 2020. The shaping of immunological responses through natural selection after the Roma Diaspora. Scientific Reports, 10(1):1–12. DOI: 10.1038/s41598-020-73182-1


Urnikyte A.; Flores-Bello A.; Mondal M.; Molyte A.; Comas D.; Calafell F.; Bosch E.; Kučinskas V.   2019. Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data. Scientific Reports. 9163 doi: doi: 10.1038/s41598-019-45746-3

Urnikyte A, Flores-Bello A, Mondal M, Molyte A, Comas D, Calafell F, Bosch E, Kučinskas V. 2019. Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data. Scientific Reports, 9(1):1-11. DOI:10.1038/s41598-019-45746-3


Flores-Bello A, Mas-Ponte D, Rosu ME, Bosch E, Calafell F, Comas D. 2018. Sequence diversity of the Rh blood group system in Basques. European Journal of Human Genetics, 26(12):1859-1866. DOI:10.1038/s41431-018-0232-1


Buxadé M, Huerga Encabo H, Riera-Borrull M, Quintana-Gallardo L, López-Cotarelo P, Tellechea M, Martínez-Martínez S, Redondo JM, Martín-Caballero J, Flores JM, Bosch E, Rodríguez-Fernández JL, Aramburu J, López-Rodríguez C. 2018. Macrophage-specific MHCII expression is regulated by a remote Ciita enhancer controlled by NFAT5. Journal of Experimental Medicine, 215(11):2901-2918. DOI:10.1084/jem.20180314


Spataro N, Rodríguez JA, Navarro A, Bosch E. 2017. Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Human Molecular Genetics, 26(3):489-500. DOI:10.1093/hmg/ddw405


Spataro N, Roca-Umbert A, Cervera-Carles L, Vallès M, Anglada R, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Kulisevsky J, Casals F, Clarimón J, Bosch E. 2017. Detection of genomic rearrangements from targeted resequencing data in Parkinson’s disease patients. Movement Disorders, 32(1):165-169. DOI:10.1002/mds.26845


Rodríguez JA, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A. 2017. Antagonistic pleiotropy and mutation accumulation influence human senescence and disease. Nature Ecology and Evolution, 1(3):1-5. DOI:10.1038/s41559-016-0055


Delgado J, Bielig T, Bonet L, Carnero-Montoro E, Puente XS, Colomer D, Bosch E, Campo E, Lozano F. 2017. Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regimens. British Journal of Haematology, 177(1):147-150. DOI:10.1111/bjh.14037


Engelken J, Espadas G, Mancuso FM, Bonet N, Scherr AL, Jímenez-Álvarez V, Codina-Solà M, Medina-Stacey D, Spataro N, Stoneking M, Calafell F, Sabidó E, Bosch E. 2016. Signatures of evolutionary adaptation in quantitative trait loci influencing trace element homeostasis in liver. Molecular Biology and Evolution, 33(3):738-754. DOI:10.1093/molbev/msv267


Santpere G, Carnero-Montoro E, Petit N, Serra F, Hvilsom C, Rambla J, Heredia-Genestar JM, Halligan DL, Dopazo H, Navarro A, Bosch E. 2015. Analysis of five gene sets in chimpanzees suggests decoupling between the action of selection on protein-coding and on noncoding elements. Genome Biology and Evolution, 7(6):1490-1505. DOI:10.1093/gbe/evv082


Engelken J, Carnero-Montoro E, Pybus M, Andrews GK, Lalueza-Fox C, Comas D, Sekler I, de la Rasilla M, Rosas A, Stoneking M, Valverde MA, Vicente R, Bosch E. 2014. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa. PLoS Genetics, 10(2). DOI:10.1371/journal.pgen.1004128


Cenit MC, Martínez-Florensa M, Consuegra M, Bonet L, Carnero-Montoro E, Armiger N, Caballero-Baños M, Arias MT, Benitez D, Ortego-Centeno N, de Ramón E, Sabio JM, García-Hernández FJ, Tolosa C, Suárez A, González-Gay MA, Bosch E, Martín J, Lozano F. 2014. Analysis of ancestral and functionally relevant CD variants in systemic lupus erythematosus patients. PLoS ONE, 9(11):1-9. DOI:10.1371/journal.pone.0113090


Sturm, S.;  Engelken, J.; Gruber, A.; Vugrinec, S.; G Kroth, P.; Adamska, I.; Lavaud, J. 2013. A novel type of light-harvesting antenna protein of red algal origin in algae with secondary plastids. BMC Evolutionary Biology. 13 (1):159


Spataro, N.;  Farfan, M.; Albarral, V.;  Sanglas, A.;  Lorén, J.G.;  Fusté, MC.;  Bosch, E. 2013. Draft GenomeSequence of Aeromonos molluscorum Strain 848T, Isolated from Bivalve MollucsGenome Announcements. 1 (3):e00382


Farfán, M.;  Spataro, Ni.; Sanglas, A.; Albarral, V.; Lorén, J. G.; Bosch, E.; Fusté, M. Carmen. 2013. Draft Genome Sequence of the Aeromonas diversa Type Strain. Genome Announcements. 1 (3)


Carnero-Montoro, E.; Bonet, L.; Engelken, J.; Bielig, T.; Martínez-Florensa, M.; Lozano, F.; Bosch, E.  2012. Evolutionary and functional evidence for positive selection at the human CD5 immune receptor gene. Molecular Biology and Evolution 29 (2): 811-823.

Myles, S.; Lea, R. A.; Ohashi, J.; [3 authors]; Engelken, J.; [4 authors]; Inaoka, T.; Matsumura, Y.; Stoneking, M. 2011. Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1A is associated with BMI in Tongans. BMC Medical Genetics 12: 10.

Laayouni H.; Montanucci L.; Sikora M.; [6 authors]; Bosch E.; Comas D.; Navarro A.; Calafell F.; Casals F.; Bertranpetit J. 2011. Similarity in recombination rate estimates highly correlates with genetic differentiation in humansPLoS ONE 6(3): e17913. doi:10.1371/journal.pone.0017913.

Gazave E, D. F.; Morcillo-Suarez C.; Petit-Marty N.; [5 authors]; Bosch E.; Baker C.; Marquès-Bonet T.; Eichler EE.; Navarro A. 2011. Copy number variation analysis in the great apes reveals species-specific patterns of structural variationGenome Research 21: 1626-1639.