Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Autor: Pierre Faux, Li Ding, Luis Miguel Ramirez-Aristeguieta, J. Camilo Chacón-Duque, Maddalena Comini, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Claudia Jaramillo, William Arias, Malena Hurtado, Valeria Villegas, Vanessa Granja, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Quinto-Sánchez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Giovanni Poletti, Carla Gallo, Francisco Rothhammer, Winston Rojas, Annina B. Schmid, Kaustubh Adhikari, David L. Bennett, Andrés Ruiz-Linares

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)

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

Externí odkaz: https://doaj.org/article/11ef99040cde41f1a3130cbb7c1a9396

A multi-ancestry GWAS meta-analysis of facial features and its application in predicting archaic human features

Autor: Du, Siyuan ^{a, b, 1}, Chen, Jieyi ^{a, c, 1}, Li, Jiarui ^a, Qian, Wei ^a, Wu, Sijie ^a, Peng, Qianqian ^a, Liu, Yu ^a, Pan, Ting ^b, Li, Yi ^a, Hadi, Sibte Syed ^d, Tan, Jingze ^e, Yuan, Ziyu ^f, Wang, Jiucun ^{f, g, h}, Tang, Kun ^a, Wang, Zhuo ^b, Wen, Yanqin ^b, Dong, Xinran ^c, Zhou, Wenhao ^{c, i}, Ruiz-Linares, Andrés ^{e, j, k}, Shi, Yongyong ^b, Jin, Li ^{f, g, h}, Liu, Fan ^{d, l}, Zhang, Manfei ^{a, b, g, ⁎}, Wang, Sijia ^{a, m, ⁎}

Publikováno v: In Journal of Genetics and Genomics July 2024

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

Autor: Qing Li, Jieyi Chen, Pierre Faux, Miguel Eduardo Delgado, Betty Bonfante, Macarena Fuentes-Guajardo, Javier Mendoza-Revilla, J. Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Sánchez-Quinto, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Sijie Wu, Siyuan Du, Andrea Giardina, Soumya Subhra Paria, Mahfuzur Rahman Khokan, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Winston Rojas, Francisco Rothhammer, Nicolas Navarro, Sijia Wang, Kaustubh Adhikari, Andrés Ruiz-Linares

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)

Abstract We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value

Externí odkaz: https://doaj.org/article/5c1a3dadff9443b1a106b728742be5d4

Sodium-calcium exchanger-3 regulates pain “wind-up”: From human psychophysics to spinal mechanisms

Autor: Trendafilova, Teodora ^{1, 22}, Adhikari, Kaustubh ^{2, 3, 4, 22}, Schmid, Annina B. ^{1, 22}, Patel, Ryan ^{5, 23}, Polgár, Erika ^{6, 23}, Chisholm, Kim I. ^{7, 23}, Middleton, Steven J. ^{1, 23}, Boyle, Kieran ^{6, 23}, Dickie, Allen C. ^{6, 23}, Semizoglou, Evangelia ^{7, 23}, Perez-Sanchez, Jimena ¹, Bell, Andrew M. ⁶, Ramirez-Aristeguieta, Luis Miguel ⁸, Khoury, Samar ⁹, Ivanov, Aleksandar ¹⁰, Wildner, Hendrik ¹¹, Ferris, Eleanor ¹, Chacón-Duque, Juan-Camilo ^{3, 12, 13}, Sokolow, Sophie ^{14, 15}, Saad Boghdady, Mohamed A. ¹, Herchuelz, André ¹⁴, Faux, Pierre ¹⁶, Poletti, Giovanni ¹⁷, Gallo, Carla ¹⁷, Rothhammer, Francisco ¹⁸, Bedoya, Gabriel ¹⁹, Zeilhofer, Hanns Ulrich ^{11, 20}, Diatchenko, Luda ⁹, McMahon, Stephen B. ⁷, Todd, Andrew J. ⁶, Dickenson, Anthony H. ⁵, Ruiz-Linares, Andres ^{3, 16, 21, 24, ∗}, Bennett, David L. ^{1, 24, 25, ∗∗}

Publikováno v: In Neuron 17 August 2022 110(16):2571-2587

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Autor: Fernández-Rhodes, Lindsay ^{1, 2, 76, 77, ∗}, Graff, Mariaelisa ^{2, 75, 77, ∗∗}, Buchanan, Victoria L. ², Justice, Anne E. ^{2, 3}, Highland, Heather M. ², Guo, Xiuqing ⁴, Zhu, Wanying ⁵, Chen, Hung-Hsin ⁵, Young, Kristin L. ², Adhikari, Kaustubh ⁶, Palmer, Nicholette D. ⁷, Below, Jennifer E. ⁵, Bradfield, Jonathan ⁸, Pereira, Alexandre C. ⁹, Glover, LáShauntá ², Kim, Daeeun ², Lilly, Adam G. ^{10, 11}, Shrestha, Poojan ^{2, 12}, Thomas, Alvin G. ², Zhang, Xinruo ², Chen, Minhui ¹³, Chiang, Charleston W.K. ^{13, 14}, Pulit, Sara ¹⁵, Horimoto, Andrea ⁹, Krieger, Jose E. ⁹, Guindo-Martínez, Marta ^{16, 17}, Preuss, Michael ¹⁶, Schumann, Claudia ¹⁸, Smit, Roelof A.J. ¹⁶, Torres-Mejía, Gabriela ¹⁹, Acuña-Alonzo, Victor ²⁰, Bedoya, Gabriel ²¹, Bortolini, Maria-Cátira ²², Canizales-Quinteros, Samuel ²³, Gallo, Carla ²⁴, González-José, Rolando ²⁵, Poletti, Giovanni ²⁴, Rothhammer, Francisco ²⁶, Hakonarson, Hakon ⁸, Igo, Robert ^{27, 78}, Adler, Sharon G. ²⁸, Iyengar, Sudha K. ²⁷, Nicholas, Susanne B. ²⁹, Gogarten, Stephanie M. ³⁰, Isasi, Carmen R. ³¹, Papnicolaou, George ³², Stilp, Adrienne M. ³⁰, Qi, Qibin ³¹, Kho, Minjung ³³, Smith, Jennifer A. ³³, Langefeld, Carl D. ³⁴, Wagenknecht, Lynne ³⁵, Mckean-Cowdin, Roberta ³⁶, Gao, Xiaoyi Raymond ³⁷, Nousome, Darryl ³⁶, Conti, David V. ¹³, Feng, Ye ³⁶, Allison, Matthew A. ³⁸, Arzumanyan, Zorayr ⁴, Buchanan, Thomas A. ³⁹, Ida Chen, Yii-Der ⁴, Genter, Pauline M. ⁴⁰, Goodarzi, Mark O. ⁴¹, Hai, Yang ⁴, Hsueh, Willa ⁴², Ipp, Eli ^{29, 40}, Kandeel, Fouad R. ⁴³, Lam, Kelvin ⁴, Li, Xiaohui ⁴, Nadler, Jerry L. ⁴⁴, Raffel, Leslie J. ⁴⁵, Roll, Kathryn ⁴, Sandow, Kevin ⁴, Tan, Jingyi ⁴, Taylor, Kent D. ⁴, Xiang, Anny H. ⁴⁶, Yao, Jie ⁴, Audirac-Chalifour, Astride ⁴⁷, de Jesus Peralta Romero, Jose ⁴⁷, Hartwig, Fernando ⁴⁸, Horta, Bernando ⁴⁸, Blangero, John ⁴⁹, Curran, Joanne E. ⁴⁹, Duggirala, Ravindranath ⁴⁹, Lehman, Donna E. ⁵⁰, Puppala, Sobha ⁵¹, Fejerman, Laura ⁵², John, Esther M. ⁵³, Aguilar-Salinas, Carlos ⁵⁴, Burtt, Noël P. ⁵⁵, Florez, Jose C. ^{55, 56, 57}, García-Ortíz, Humberto ⁵⁸, González-Villalpando, Clicerio ⁵⁹, Mercader, Josep ^{55, 56, 57}, Orozco, Lorena ⁵⁸, Tusié-Luna, Teresa ⁶⁰, Blanco, Estela ⁶¹, Gahagan, Sheila ⁶¹, Cox, Nancy J. ⁵, Hanis, Craig ⁶², Butte, Nancy F. ⁶³, Cole, Shelley A. ⁶⁴, Comuzzie, Anthony G. ⁶⁵, Voruganti, V. Saroja ⁶⁶, Rohde, Rebecca ², Wang, Yujie ², Sofer, Tamar ^{57, 67}, Ziv, Elad ⁶⁸, Grant, Struan F.A. ⁸, Ruiz-Linares, Andres ^{69, 70, 71}, Rotter, Jerome I. ⁴, Haiman, Christopher A. ¹³, Parra, Esteban J. ⁷², Cruz, Miguel ⁴⁷, Loos, Ruth J.F. ^{16, 73}, North, Kari E. ^{2, 74}

Publikováno v: In Human Genetics and Genomics Advances 14 April 2022 3(2)