Universidad Peruana Cayetano Heredia
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.relation.issn | 2399-3642 |
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