Evolutionary Population Genetics Lab
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
Garcia-Calleja J, Biagini SA, de Cid R, Calafell F, Bosch E. 2025. Inferring past demography and genetic adaptation in Spain using the GCAT cohort. Scientific Reports;15(1):14225. doi:10.1038/s41598-025-98272-w
Derkx, I; Ceballos, F; Biagini, SA; Subedi, S; Rajbhandari, P; Gyawali, A; Bosch, E; Vinicius, L; Migliano, AB; Bertranpetit, J (2024). The genetic demographic history of the last hunter-gatherer population of the Himalayas. Scientific Reports 15, Article number: 1505.
Sinigaglia B, Escudero J, Biagini SA, Garcia-Calleja J, Moreno J, Dobon B, Acosta S, Mondal M, Walsh S, Aguileta G, Vallès M, Forrow S, Martin-Caballero J, Migliano AB, Bertranpetit J, Muñoz FJ, Bosch E. 2024. Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G. Molecular Biology and Evolution, 41(2):1-18. DOI:10.1093/molbev/msae015
Roca-Umbert A, Garcia-Calleja J, Vogel-González M, Fierro-Villegas A, Ill-Raga G, Herrera-Fernández V, Bosnjak A, Muntané G, Gutiérrez E, Campelo F, Vicente R, Bosch E. 2023. Human genetic adaptation related to cellular zinc homeostasis. PLOS Genetics, 19(9):e1010950. DOI:10.1371/journal.pgen.1010950
Muntané G, Vázquez-Bourgon J, Sada E, Martorell L, Papiol S, Bosch E, Navarro A, Crespo-Facorro B, Vilella E. 2023. Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis. European Psychiatry, 66(1):e28. DOI:10.1192/j.eurpsy.2023.9
Caro-Consuegra R, Lucas-Sánchez M, Comas D, Bosch E. 2023. Identifying signatures of positive selection in human populations from North Africa. Scientific Reports, 13(1):8166. DOI:10.1038/s41598-023-35312-3
Roca-Umbert A, Caro-Consuegra R, Londono-Correa D, Rodriguez-Lozano GF, Vicente R, Bosch E.2022. Understanding signatures of positive natural selection in human zinc transporter genes. Scientific Reports, 12(1):4320. DOI:10.1038/s41598-022-08439-y
Caro-Consuegra R, Nieves-Colón MA, Rawls E, Rubin-de-Celis V, Lizárraga B, Vidaurre T, Sandoval K, Fejerman L, Stone AC, Moreno-Estrada A, Bosch E. 2022. Uncovering signals of positive selection in Peruvian populations from three ecological regions. Molecular Biology and Evolution, 39(8). DOI:10.1093/molbev/msac158
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; 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
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
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, 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, Kroth PG, 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). DOI:10.1186/1471-2148-13-159
Spataro N, Farfán M, Albarral V, Sanglas A, Lorén JG, Fusté MC, Bosch E. 2013. Draft genome sequence of Aeromonas molluscorum strain 848TT, isolated from bivalve molluscs. Genome Announcements, 1(3):3-4. DOI:10.1128/genomeA.00382-13
Farfán M, Spataro N, Sanglas A, Albarral V, Lorén JG, Bosch E, Fusté MC. 2013. Draft genome sequence of the Aeromonas diversa type strain. Genome Announcements, 1(3):0-1. DOI:10.1128/genomeA.00330-13
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. DOI:10.1093/molbev/msr251
Myles S, Lea RA, Ohashi J, Chambers GK, Weiss JG, Hardouin E, Engelken J, Macartney-Coxson DP, Eccles DA, Naka I, Kimura R, 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. DOI:10.1186/1471-2350-12-10
Laayouni H, Montanucci L, Sikora M, Melé M, Dall'Olio GM, Lorente-Galdos B, McGee KM, Graffelman J, Awadalla P, Bosch E, Comas D, Navarro A, Calafell F, Casals F, Bertranpetit J. 2011. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS ONE, 6(3). DOI:10.1371/journal.pone.0017913
Gazave E, Darré F, Morcillo-Suarez C, Petit-Marty N, Carreño A, Marigorta UM, Ryder OA, Blancher A, Rocchi M, 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 variation. Genome Research, 21(10):1626-1639. DOI:10.1101/gr.117242.110