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Your search keyword '"Granja, Vanessa"' showing total 3 results
Start Over Author "Granja, Vanessa" Topic edar receptor
3 results on '"Granja, Vanessa"'

1. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.

Author

Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, Mendoza-Revilla J, Camilo Chacón-Duque J, Acuña-Alonzo V, Jaramillo C, Arias W, Lozano RB, Pérez GM, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Cheeseman M, Rosique J, Bedoya G, Rothhammer F, Headon D, González-José R, Balding D, and Ruiz-Linares A

Subjects
Adult, Anatomic Variation, Animals, Genome-Wide Association Study, Humans, Latin America, Maxillofacial Development genetics, Mice, Polymorphism, Single Nucleotide, Young Adult, Cadherin Related Proteins genetics, Core Binding Factor Alpha 1 Subunit genetics, Edar Receptor genetics, Face anatomy & histology, Nerve Tissue Proteins genetics, Paired Box Transcription Factors genetics, Zinc Finger Protein Gli3 genetics
Abstract

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.

Published
2016
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2. A genome-wide association study identifies multiple loci for variation in human ear morphology.

Author

Adhikari K, Reales G, Smith AJ, Konka E, Palmen J, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Fuentes M, Pizarro M, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Calderón R, Rosique J, Cheeseman M, Bhutta MF, Humphries SE, Gonzalez-José R, Headon D, Balding D, and Ruiz-Linares A

Subjects
Adolescent, Adult, American Indian or Alaska Native genetics, Animals, Cell Line, Tumor, Ear Auricle anatomy & histology, Female, Genome-Wide Association Study, Genotype, Homeodomain Proteins metabolism, Humans, Latin America, Male, Mice, Phenotype, Polymorphism, Single Nucleotide, T-Box Domain Proteins metabolism, White People genetics, Young Adult, Ear Auricle embryology, Edar Receptor genetics, Morphogenesis genetics, T-Box Domain Proteins genetics
Abstract

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10(-8) to 3 × 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.

Published
2015
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3. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Author

Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Quinto-Sánchez, Mirsha, Mendoza-Revilla, Javier, Camilo Chacón-Duque, Juan, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Pérez, Gastón Macín, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Cheeseman, Michael, Rosique, Javier, Bedoya, Gabriel, Rothhammer, Francisco, Headon, Denis, González-José, Rolando, Balding, David, and Ruiz-Linares, Andrés

Subjects
Adult, Population genetics, Science, purl.org/pe-repo/ocde/ford#1.06.03 [https], Otras Ciencias Biológicas, purl.org/pe-repo/ocde/ford#1.03.00 [https], Cadherin Related Proteins, morphogenesis, Core Binding Factor Alpha 1 Subunit, Nerve Tissue Proteins, Paired Box Transcription Factors/genetics, Polymorphism, Single Nucleotide, Article, purl.org/becyt/ford/1 [https], Core Binding Factor Alpha 1 Subunit/genetics, Ciencias Biológicas, Mice, Young Adult, Zinc Finger Protein Gli3, Paired Box Transcription Factors, Animals, Humans, Nerve Tissue Proteins/genetics, purl.org/becyt/ford/1.6 [https], Maxillofacial Development, Edar Receptor, Maxillofacial Development/genetics, Anatomic Variation, Zinc Finger Protein Gli3/genetics, Edar Receptor/genetics, stomatognathic diseases, Latin America, Cadherin Related Proteins/genetics, Face, genome-wide association studies, purl.org/pe-repo/ocde/ford#1.04.00 [https], Face/anatomy & histology, CIENCIAS NATURALES Y EXACTAS, Genome-Wide Association Study
Abstract

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values, Humans show great diversity in facial appearance and this variation is highly heritable. Here, Andres Ruiz-Linares and colleagues examined facial features in admixed Latin Americans and identify genome-wide associations for 14 facial traits, including four gene loci (RUNX2, GLI3, DCHS2 and PAX1) influencing nose morphology.

Published
2016

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