A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

被引：138

作者：

Adhikari, Kaustubh ^{[1
,2
]}

Fontanil, Tania ^{[3
]}

Cal, Santiago ^{[3
]}

Mendoza-Revilla, Javier ^{[1
,2
,4
]}

Fuentes-Guajardo, Macarena ^{[1
,2
,5
]}

Chacon-Duque, Juan-Camilo ^{[1
,2
]}

Al-Saadi, Farah ^{[1
,2
]}

Johansson, Jeanette A. ^{[6
,7
]}

Quinto-Sanchez, Mirsha ^{[8
]}

Acuna-Alonzo, Victor ^{[1
,2
,9
]}

Jaramillo, Claudia ^{[10
]}

Arias, William

Barquera Lozano, Rodrigo ^{[9
,11
]}

Macin Perez, Gaston ^{[9
,11
]}

Gomez-Valdes, Jorge ^{[12
]}

Villamil-Ramirez, Hugo ^{[11
]}

Hunemeier, Tabita ^{[13
,18
]}

Ramallo, Virginia ^{[13
]}

Silva de Cerqueira, Caio C. ^{[13
]}

Hurtado, Malena ^{[4
]}

Villegas, Valeria ^{[4
]}

Granja, Vanessa ^{[4
]}

Gallo, Carla ^{[4
]}

Poletti, Giovanni ^{[4
]}

Schuler-Faccini, Lavinia ^{[13
]}

Salzano, Francisco M. ^{[13
]}

Bortolini, Maria-Catira ^{[13
]}

Canizales-Quinteros, Samuel ^{[11
]}

Rothhammer, Francisco ^{[14
]}

Bedoya, Gabriel ^{[10
]}

Gonzalez-Jose, Rolando ^{[8
]}

Headon, Denis ^{[6
,7
]}

Lopez-Otin, Carlos ^{[3
]}

Tobin, Desmond J. ^{[15
]}

Balding, David ^{[1
,2
,16
,17
]}

Ruiz-Linares, Andres ^{[1
,2
]}

机构：

[1] UCL, Dept Genet Evolut & Environm, Mortimer St, London WC1E 6BT, England

[2] UCL, UCL Genet Inst, Mortimer St, London WC1E 6BT, England

[3] Univ Oviedo, Dept Bioquim & Biol Mol, IUOPA, E-33006 Oviedo, Spain

[4] Univ Peruana Cayetano Heredia, Fac Ciencias & Filosofia, Labs Invest & Desarrollo, Lima 31, Peru

[5] Univ Tarapaca, Fac Ciencias Salud, Dept Tecnol Med, Tarapaca 1000009, Arica, Chile

[6] Univ Edinburgh, Roslin Inst, Roslin EH25 9RG, Midlothian, Scotland

[7] Univ Edinburgh, Royal Dick Sch Vet Studies, Roslin EH25 9RG, Midlothian, Scotland

[8] Consejo Nacl Invest Cient & Tecn, Ctr Nacl Patagon, U9129ACD, Puerto Madryn, Argentina

[9] Natl Inst Anthropol & Hist, Mexico City 4510, DF, Mexico

[10] Univ Antioquia, GENMOL Genet Mol, Medellin 5001000, Colombia

[11] Univ Nacl Autonoma Mexico, Inst Nacl Med Genom, Fac Quim, Unidad Genom Poblaciones Aplicada Salud, Mexico City 4510, DF, Mexico

[12] Univ Nacl Autonoma Mexico, Fac Med, Mexico City 4510, DF, Mexico

[13] Univ Fed Rio Grande do Sul, Dept Genet, BR-91501970 Porto Alegre, RS, Brazil

[14] Univ Tarapaca, Inst Alta Invest, Arica 1000000, Chile

[15] Univ Bradford, Fac Life Sci, Ctr Skin Sci, Victoria BD7 1DP, W Yorkshire, England

[16] Univ Melbourne, Sch BioSci, Melbourne, Vic 3010, Australia

[17] Univ Melbourne, Sch Math & Stat, Melbourne, Vic 3010, Australia

[18] Univ Sao Paulo, Dept Genet & Biol Evolut, BR-05508090 Sao Paulo, SP, Brazil

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

基金：

英国生物技术与生命科学研究理事会; 英国工程与自然科学研究理事会;

关键词：

GENOTYPE IMPUTATION; STRAIGHT HAIR; VARIANTS; SKIN; EDAR; HERITABILITY; MORPHOLOGY; EXPRESSION; FOLLICLE; GENE;

D O I：

10.1038/ncomms10815

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 x 10(-8) to 3 x 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.

引用

页数：12

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