File:GWAS loci influencing human facial and scalp hair phenotypes - cropped.png

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English: Genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. At the top are shown drawings illustrating the seven hair features examined in the CANDELA study sample. Thick lines connect these features with the candidate genes identified in regions with SNPs reaching genome-wide significant association (Table 1). Composite panels in this figure was made using Photoshop.
Date Published 2016-03-01
Source Kaustubh Adhikari et al. 'A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.' Nature Communications 7, Article number: 10815 doi:10.1038/ncomms10815 http://www.nature.com/ncomms/2016/160301/ncomms10815/full/ncomms10815.html
Author Kaustubh Adhikari, Tania Fontanil, Santiago Cal, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Juan-Camilo Chacón-Duque, Farah Al-Saadi, Jeanette A. Johansson, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rolando Gonzalez-José, Denis Headon, Carlos López-Otín, Desmond J. Tobin, David Balding and Andrés Ruiz-Linares.
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Table1: SNP, single-nucleotide polymorphism.
Regions with intragenic index SNPs are shown in bold (the gene name is underlined if this index SNP is coding). SNPs in regions reaching only genome-wide suggestive association, P value <10−5, are listed in Supplementary Table 6
Trait Region SNP Closest gene P value Alleles ancestral>derived
Hair shape 1q21 rs11803731 TCHH 3 × 10−12 A>T
Hair shape 2q12 rs3827760 EDAR 3 × 10−119 A>G
Hair shape 10p14 rs17143387 GATA3 4 × 10−8 T>G
Hair shape 16p11 rs11150606 PRSS53 7 × 10−9 T>C
Beard thickness 2q12 rs365060 EDAR 1 × 10−15 G>C
Beard thickness 4q12 rs4864809 LNX1 1 × 10−8 A>G
Beard thickness 6q21 rs6901317 PREP 4 × 10−8 G>T
Beard thickness 7q31 rs117717824 FOXP2 1 × 10−8 G>T
Eyebrow thickness 3q22 rs112458845 FOXL2 4 × 10−10 G>A
Monobrow 2q36 rs2218065 PAX3 5 × 10−8 A>G
Hair greying 6p25 rs12203592 IRF4 3 × 10−13 C>T
Hair colour 5p13 rs183671 SLC45A2 2 × 10−59 T>G
Hair colour 6p25 rs12203592 IRF4 1 × 10−13 C>T
Hair colour 11q14 rs598952 TYR 2 × 10−8 T>A
Hair colour 15q13 rs12913832 HERC2/OCA2 5 × 10−104 A>G
Hair colour 15q21 rs1426654 SLC24A5 1 × 10−18 G>A
Balding 10q22 rs2814331 GRID1 4 × 10−9 C>T
Balding Xq12 rs4258142 AR/EDA2R 2 × 10−8 C>T

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