Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

• Published in: Communications biology Vol. 6; no. 1; p. 958
• Main Authors: Faux, Pierre, Ding, Li, Ramirez-Aristeguieta, Luis Miguel, Chacón-Duque, J. Camilo, Comini, Maddalena, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Jaramillo, Claudia, Arias, William, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Barquera, Rodrigo, Everardo-Martínez, Paola, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Schmid, Annina B., Adhikari, Kaustubh, Bennett, David L., Ruiz-Linares, Andrés
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 10.10.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 45; 45/43; 631/208/205; 631/208/457; 631/378/2586; Animals; Biology; Biomedical and Life Sciences; Channel gating; Genetics; Genotypes; Hominids; Human genetics; Humans; Life Sciences; Minority & ethnic groups; NAV1.7 Voltage-Gated Sodium Channel - genetics; Neanderthals - genetics; Nociception; Pain; Pain - genetics; Pain perception; Pain Threshold; Sodium channels (voltage-gated)

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. I...