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4 results on '"Bedoya, E.G. (Elsie)"'

1. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Author

Bonfante, B. (Betty), Faux, P. (Pierre), Navarro, N. (Nicolas), Mendoza-Revilla, J. (Javier), Dubied, M. (Morgane), Montillot, C. (Charlotte), Wentworth, E. (Emma), Poloni, L. (Lauriane), Varón-González, C. (Ceferino), Jones, P. (Philip), Xiong, Z. (Ziyi), Fuentes-Guajardo, M. (Macarena), Palmal, S. (Sagnik), Chacón-Duque, J.C. (Juan Camilo), Hurtado, M. (Malena), Villegas, V. (Valeria), Granja, V. (Vanessa), Jaramillo, C. (Claudia), Arias, W. (William), Barquera, R. (Rodrigo), Everardo-Martínez, P. (Paola), Sánchez-Quinto, M. (Mirsha), Gómez-Valdés, J. (Jorge), Villamil-Ramírez, H. (Hugo), Silva de Cerqueira, C.C. (Caio C.), Hünemeier, T. (Tábita), Ramallo, V. (Virginia), Liu, F. (Fan), Weinberg, S.M. (Seth M.), Shaffer, J.R. (John R), Stergiakouli, E. (Evie), Howe, L.J. (Laurence J.), Hysi, P.G. (Pirro G.), Spector, T.D. (Timothy D.), Gonzalez-José, R. (Rolando), Schüler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Acuña-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Thauvin-Robinet, C. (Christel), Faivre, L. (Laurence), Costedoat, C. (Caroline), Balding, D.J. (David), Cox, T. (Timothy), Kayser, M.H. (Manfred), Duplomb, L. (Laurence), Yalcin, B. (Binnaz), Cotney, J. (Justin), Adhikari, K. (Kaustubh), Ruiz-Linares, A. (Andres), Bonfante, B. (Betty), Faux, P. (Pierre), Navarro, N. (Nicolas), Mendoza-Revilla, J. (Javier), Dubied, M. (Morgane), Montillot, C. (Charlotte), Wentworth, E. (Emma), Poloni, L. (Lauriane), Varón-González, C. (Ceferino), Jones, P. (Philip), Xiong, Z. (Ziyi), Fuentes-Guajardo, M. (Macarena), Palmal, S. (Sagnik), Chacón-Duque, J.C. (Juan Camilo), Hurtado, M. (Malena), Villegas, V. (Valeria), Granja, V. (Vanessa), Jaramillo, C. (Claudia), Arias, W. (William), Barquera, R. (Rodrigo), Everardo-Martínez, P. (Paola), Sánchez-Quinto, M. (Mirsha), Gómez-Valdés, J. (Jorge), Villamil-Ramírez, H. (Hugo), Silva de Cerqueira, C.C. (Caio C.), Hünemeier, T. (Tábita), Ramallo, V. (Virginia), Liu, F. (Fan), Weinberg, S.M. (Seth M.), Shaffer, J.R. (John R), Stergiakouli, E. (Evie), Howe, L.J. (Laurence J.), Hysi, P.G. (Pirro G.), Spector, T.D. (Timothy D.), Gonzalez-José, R. (Rolando), Schüler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Acuña-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Thauvin-Robinet, C. (Christel), Faivre, L. (Laurence), Costedoat, C. (Caroline), Balding, D.J. (David), Cox, T. (Timothy), Kayser, M.H. (Manfred), Duplomb, L. (Laurence), Yalcin, B. (Binnaz), Cotney, J. (Justin), Adhikari, K. (Kaustubh), and Ruiz-Linares, A. (Andres)

Abstract

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.

Published
2021
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2. Novel genetic loci affecting facial shape variation in humans

Author

Xiong, Z. (Ziyi), Dankova, G. (Gabriela), Howe, L.J. (Laurence J.), Lee, M.K. (Myoung Keun), Hysi, P.G. (Pirro G.), Jong, M.A. (Markus) de, Zhu, G. (Gu), Adhikari, K. (Kaustubh), Li, D. (Dan), Li, Y. (Yi), Pan, B. (Bo), Feingold, E. (Eleanor), Marazita, M.L. (Mary), Shaffer, J.R. (John R), McAloney, K. (Kerrie), Xu, S. (Shuhua), Jin, L. (Li), Wang, S. (Sijia), Vrij, F.M.S. (Femke), Lendemeijer, B. (Bas), Richmond, S. (Stephen), Zhurov, A. (Alexei), Lewis, S. (Sarah), Sharp, G.C. (Gemma C.), Paternoster, L. (Lavinia), Thompson, H. (Holly), Gonzalez-Jose, R. (Rolando), Bortolini, M.C. (Maria Catira), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Wolvius, E.B. (Eppo), Kushner, S.A. (Steven), Nijsten, T.E.C. (Tamar), Palstra, R.-J.T.S. (Robert-Jan), Boehringer, S. (Stefan), Medland, S.E. (Sarah), Tang, K. (Kun), Ruiz-Linares, A. (Andres), Martin, N.G. (Nicholas), Spector, T.D. (Timothy), Stergiakouli, E. (Evie), Weinberg, S.M. (Seth M.), Liu, F. (Fan), Kayser, M.H. (Manfred), Xiong, Z. (Ziyi), Dankova, G. (Gabriela), Howe, L.J. (Laurence J.), Lee, M.K. (Myoung Keun), Hysi, P.G. (Pirro G.), Jong, M.A. (Markus) de, Zhu, G. (Gu), Adhikari, K. (Kaustubh), Li, D. (Dan), Li, Y. (Yi), Pan, B. (Bo), Feingold, E. (Eleanor), Marazita, M.L. (Mary), Shaffer, J.R. (John R), McAloney, K. (Kerrie), Xu, S. (Shuhua), Jin, L. (Li), Wang, S. (Sijia), Vrij, F.M.S. (Femke), Lendemeijer, B. (Bas), Richmond, S. (Stephen), Zhurov, A. (Alexei), Lewis, S. (Sarah), Sharp, G.C. (Gemma C.), Paternoster, L. (Lavinia), Thompson, H. (Holly), Gonzalez-Jose, R. (Rolando), Bortolini, M.C. (Maria Catira), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Wolvius, E.B. (Eppo), Kushner, S.A. (Steven), Nijsten, T.E.C. (Tamar), Palstra, R.-J.T.S. (Robert-Jan), Boehringer, S. (Stefan), Medland, S.E. (Sarah), Tang, K. (Kun), Ruiz-Linares, A. (Andres), Martin, N.G. (Nicholas), Spector, T.D. (Timothy), Stergiakouli, E. (Evie), Weinberg, S.M. (Seth M.), Liu, F. (Fan), and Kayser, M.H. (Manfred)

Abstract

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.

Published
2019
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3. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Author

Wu, S. (Sijie), Zhang, M. (Manfei), Yang, X. (Xinzhou), Peng, F. (Fuduan), Zhang, J. (Juan), Tan, J. (Jingze), Yang, Y. (Yajun), Wang, L. (Lina), Hu, Y. (Yanan), Peng, Q. (Qianqian), Li, J. (Jinxi), Liu, Y. (Yu), Guan, Y. (Yaqun), Chen, C. (Chen), Hamer, M.A. (Merel), Nijsten, T.E.C. (Tamar), Zeng, C. (Changqing), Adhikari, K. (Kaustubh), Gallo, C. (Carla), Poletti, G. (Giovanni), Schuler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Canizales-Quinteros, S. (Samuel), Rothhammer, F. (Francisco), Bedoya, E.G. (Elsie), González-José, R. (Rolando), Li, H. (Hui), Krutmann, J. (Jean), Liu, F. (Fan), Kayser, M.H. (Manfred), Ruiz-Linares, A. (Andres), Tang, K. (Kun), Xu, S. (Shuhua), Zhang, L. (Liang), Jin, L. (Li), Wang, S. (Sijia), Wu, S. (Sijie), Zhang, M. (Manfei), Yang, X. (Xinzhou), Peng, F. (Fuduan), Zhang, J. (Juan), Tan, J. (Jingze), Yang, Y. (Yajun), Wang, L. (Lina), Hu, Y. (Yanan), Peng, Q. (Qianqian), Li, J. (Jinxi), Liu, Y. (Yu), Guan, Y. (Yaqun), Chen, C. (Chen), Hamer, M.A. (Merel), Nijsten, T.E.C. (Tamar), Zeng, C. (Changqing), Adhikari, K. (Kaustubh), Gallo, C. (Carla), Poletti, G. (Giovanni), Schuler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Canizales-Quinteros, S. (Samuel), Rothhammer, F. (Francisco), Bedoya, E.G. (Elsie), González-José, R. (Rolando), Li, H. (Hui), Krutmann, J. (Jean), Liu, F. (Fan), Kayser, M.H. (Manfred), Ruiz-Linares, A. (Andres), Tang, K. (Kun), Xu, S. (Shuhua), Zhang, L. (Liang), Jin, L. (Li), and Wang, S. (Sijia)

Abstract

Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51×10−10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10−8). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10−11) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the pop

Published
2018
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4. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Author

Liu, F. (Fan), Chen, Y. (Yan), Zhu, G. (Gu), Hysi, P.G. (Pirro), Wu, S. (Sijie), Adhikari, K. (Kaustubh), Breslin, K. (Krystal), Pośpiech, E. (Ewelina), Hamer, M.A. (Merel), Peng, F. (Fuduan), Muralidharan, C. (Charanya), Acuna-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Bedoya, E.G. (Elsie), Gallo, C. (Carla), Poletti, G. (Giovanni), Rothhammer, F. (Francisco), Bortolini, M.C. (Maria Catira), Gonzalez-Jose, R. (Rolando), Zeng, C. (Changqing), Xu, S. (Shuhua), Jin, L. (Li), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Nijsten, T.E.C. (Tamar), Walsh, S. (Susan), Branicki, W. (Wojciech), Wang, S. (Sijia), Ruiz-Linares, A. (Andres), Spector, T.D. (Timothy), Martin, N.G. (Nicholas G.), Medland, S.E. (Sarah), Kayser, M.H. (Manfred), Liu, F. (Fan), Chen, Y. (Yan), Zhu, G. (Gu), Hysi, P.G. (Pirro), Wu, S. (Sijie), Adhikari, K. (Kaustubh), Breslin, K. (Krystal), Pośpiech, E. (Ewelina), Hamer, M.A. (Merel), Peng, F. (Fuduan), Muralidharan, C. (Charanya), Acuna-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Bedoya, E.G. (Elsie), Gallo, C. (Carla), Poletti, G. (Giovanni), Rothhammer, F. (Francisco), Bortolini, M.C. (Maria Catira), Gonzalez-Jose, R. (Rolando), Zeng, C. (Changqing), Xu, S. (Shuhua), Jin, L. (Li), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Nijsten, T.E.C. (Tamar), Walsh, S. (Susan), Branicki, W. (Wojciech), Wang, S. (Sijia), Ruiz-Linares, A. (Andres), Spector, T.D. (Timothy), Martin, N.G. (Nicholas G.), Medland, S.E. (Sarah), and Kayser, M.H. (Manfred)

Abstract

Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 E

Published
2018
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