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Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

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dc.contributor.author Faux, Pierre
dc.contributor.author Ding, Li
dc.contributor.author Ramirez-Aristeguieta, Luis Miguel
dc.contributor.author Chacón-Duque, J. Camilo
dc.contributor.author Comini, Maddalena
dc.contributor.author Mendoza Revilla, Javier Alberto
dc.contributor.author Fuentes-Guajardo, Macarena
dc.contributor.author Jaramillo, Claudia
dc.contributor.author Arias, William
dc.contributor.author Hurtado Chiong, Gloria Malena
dc.contributor.author Villegas Bernaola, Valeria
dc.contributor.author Granja Burbano, Vanessa Patricia
dc.contributor.author Barquera, Rodrigo
dc.contributor.author Everardo-Martínez, Paola
dc.contributor.author Quinto-Sánchez, Mirsha
dc.contributor.author Gómez-Valdés, Jorge
dc.contributor.author Villamil-Ramírez, Hugo
dc.contributor.author Silva de Cerqueira, Caio C.
dc.contributor.author Hünemeier, Tábita
dc.contributor.author Ramallo, Virginia
dc.contributor.author Gonzalez-José, Rolando
dc.contributor.author Schüler-Faccini, Lavinia
dc.contributor.author Bortolini, Maria-Cátira
dc.contributor.author Acuña-Alonzo, Victor
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Poletti Ferrara, Giovanni Angelo
dc.contributor.author Gallo López-Aliaga, Carla Maria|Rothhammer, Francisco
dc.contributor.author Rojas, Winston
dc.contributor.author Schmid, Annina B.
dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Bennett, David L.
dc.contributor.author Ruiz-Linares, Andrés
dc.coverage.spatial Brasil
dc.coverage.spatial Chile
dc.coverage.spatial Colombia
dc.coverage.spatial México
dc.coverage.spatial Perú
dc.date.accessioned 2023-12-05T17:48:02Z
dc.date.available 2023-12-05T17:48:02Z
dc.date.issued 2023
dc.identifier.uri https://hdl.handle.net/20.500.12866/14653
dc.description.abstract The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate with pain symptomatology in UK BioBank data. In 1000 genomes data, these variants are absent in Europeans but common in Latin Americans. Analysing high-density genotype data from 7594 Latin Americans, we characterized Neanderthal introgression in SCN9A. We find that tracts of introgression occur on a Native American genomic background, have an average length of ~123 kb and overlap the M932L, V991L, and D1908G coding positions. Furthermore, we measured experimentally six pain thresholds in 1623 healthy Colombians. We found that Neanderthal ancestry in SCN9A is significantly associated with a lower mechanical pain threshold after sensitization with mustard oil and evidence of additivity of effects across Nav1.7 variants. Our findings support the reported association of Neanderthal Nav1.7 variants with clinical pain, define a specific sensory modality affected by archaic introgression in SCN9A and are consistent with independent effects of the Neanderthal variants on Nav1.7 function. en_US
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartofseries Communications Biology
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Genetic association study en_US
dc.subject Ion channels en_US
dc.subject Nervous system en_US
dc.subject Population genetics en_US
dc.subject.mesh Estudios de Asociación Genética
dc.subject.mesh Canales Iónicos
dc.subject.mesh Sistema Nervioso
dc.subject.mesh Genética de Población
dc.title Neanderthal introgression in SCN9A impacts mechanical pain sensitivity en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/s42003-023-05286-z
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.relation.issn 2399-3642


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