This lab carries out research into different aspects of human genetic diversity, such as the architecture of the genetic predisposition to complex disease and of human adaptation. To this end, sequencing data from different control/case settings or geographically diverse populations are often analysed, and methods for rare variant association and genome-wide detection of selection are subsequently applied. By using in silico predictions, molecular biology techniques and phenotypic data, the Evolutionary Population Genetics lab aims to elucidate the genetic variants and molecular phenotypes underlying the functional basis of different human adaptations.

Lab website: Bosch Lab

Investigadora principal Investigadora principal

Miembros del grupo Miembros del grupo

Proyectos en curso Proyectos en curso

Publicaciones Publicaciones

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. 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

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, J.A.; Navarro, A.; and Bosch, E. 2017. Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Hum Mol Genet.

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


Rodríguez, J.A.; Marigorta, U.M.; Hughes, D.A.; Spataro, N.; Bosch, E.; Navarro, A. 2017. Antagonistic pleiotropy and mutation accumulation influence human senescence and disease. Nature Ecology & Evolution 1:0055

Delgado, J.; Bielig, T.; Bonet, L.; Carnero-Montoro, E.; Puente, X.S.; 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 regimensBritish Journal of Haematology 177(1):147-150

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.; and Bosch, E. 2016. Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. Mov Disord 32 (1), 165-169

Engelken, J.; Espadas, G.; Mancuso, F.M.; Bonet, N.; Scherr, A.L.; Jímenez-Álvarez, V.; Codina-Solà, M.; Medina-Stacey, D.; Spataro, N.; Stoneking, M.; Calafell, F.; Sabidó, E.; and Bosch, E. (2016). Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in LiverMolecular Biology and Evolution

Spataro, N.; Calafell, F.; Cervera-Carles, L.; [6 authors]; Navarro, A.; iClarimón, J.; Bosch, E. 2015. Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease. Human Molecular Genetics 24(7): 2023-2034.


Santpere, G.; Carnero-Montoro., E.; Petit, N.; [5 authors]; 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.


Engelken, J.; Carnero-Montoro, E.; Pybus, M.; Andrews, G.K.; Lalueza-Fox, C.; Comas, D.; Sekler, I.; de la Rasilla, M.; Rosas, A.; Stoneking, M.; Valverde, M.A.; Vicente, R.; and Bosch, E. 2014. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa. PLoS Genet. 10 (2):e1004128


Cenit, M.C.; Martínez-Florensa, M.; Consuegra, M.; [13 authors]; Bosch, E.; Martín, J.; and Lozano, F. 2014. Analysis of Ancestral and Functionally Relevant CD5 Variants in Systemic Lupus Erythematosus Patients. Plos One 9(11): e113090.


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.