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| PMID |
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| TITLE |
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| Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair. |
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| ABSTRACT |
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| 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 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P < 5e-8). All except one (1p36.22 PEX14) were replicated with nominal significance in at least one of the 6 additional cohorts of European, Native American and East Asian origins. Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at the nominal significance level. A multivariable regression model revealed that 14 SNPs from different genes significantly and independently contribute to hair shape variation, reaching a cross-validated AUC value of 0.66 (95% CI: 0.62-0.70) and an AUC value of 0.64 in an independent validation cohort, providing an improved accuracy compared with a previous model. Prediction outcomes of 2504 individuals from a multiethnic sample were largely consistent with general knowledge on the global distribution of hair shape variation. Our study thus delivers target genes and DNA variants for future functional studies to further evaluate the molecular basis of hair shape in humans. |
| © The Author(s) 2017. Published by Oxford University Press. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| received |
2017/09/05 |
| accepted |
2017/11/29 |
| pubmed |
2017/12/09 06:00 |
| medline |
2019/01/08 06:00 |
| entrez |
2017/12/09 06:00 |
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| AUTHORS |
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| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Liu F |
|
Liu |
Fan |
F |
|
University of Chinese Academy of Sciences, Beijing, China. |
| Chen Y |
|
Chen |
Yan |
Y |
|
University of Chinese Academy of Sciences, Beijing, China. |
| Zhu G |
|
Zhu |
Gu |
G |
|
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. |
| Hysi PG |
|
Hysi |
Pirro G |
PG |
|
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. |
| Wu S |
|
Wu |
Sijie |
S |
|
Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute for Biological Sciences, Chinese Academy of Sciences, Shanghai, China. |
| Adhikari K |
|
Adhikari |
Kaustubh |
K |
|
Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, UK. |
| Breslin K |
|
Breslin |
Krystal |
K |
|
Department of Biology, Indiana-University-Purdue-University-Indianapolis (IUPUI), Indianapolis, IN, USA. |
| Pospiech E |
|
Pospiech |
Ewelina |
E |
|
Malopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland. |
| Hamer MA |
|
Hamer |
Merel A |
MA |
|
Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. |
| Peng F |
|
Peng |
Fuduan |
F |
|
University of Chinese Academy of Sciences, Beijing, China. |
| Muralidharan C |
|
Muralidharan |
Charanya |
C |
|
Department of Biology, Indiana-University-Purdue-University-Indianapolis (IUPUI), Indianapolis, IN, USA. |
| Acuna-Alonzo V |
|
Acuna-Alonzo |
Victor |
V |
|
Laboratorio de Genética Molecular, Escuela Nacional de Antropologia e Historia, México City, México. |
| Canizales-Quinteros S |
|
Canizales-Quinteros |
Samuel |
S |
|
Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México City, México. |
| Bedoya G |
|
Bedoya |
Gabriel |
G |
|
GENMOL (Genética Molecular), Universidad de Antioquia, Medellín, Colombia. |
| Gallo C |
|
Gallo |
Carla |
C |
|
Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú. |
| Poletti G |
|
Poletti |
Giovanni |
G |
|
Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú. |
| Rothhammer F |
|
Rothhammer |
Francisco |
F |
|
Instituto de Alta Investigación, Universidad de Tarapacá, Arica, Chile. |
| Bortolini MC |
|
Bortolini |
Maria Catira |
MC |
|
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil. |
| Gonzalez-Jose R |
|
Gonzalez-Jose |
Rolando |
R |
|
Instituto Patagónico de Ciencias Sociales y Humanas, CENPAT-CONICET, Puerto Madryn, Argentina. |
| Zeng C |
|
Zeng |
Changqing |
C |
|
Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China. |
| Xu S |
|
Xu |
Shuhua |
S |
|
School of Life Science and Technology, Shanghai Tech University, Shanghai, China. |
| Jin L |
|
Jin |
Li |
L |
|
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China. |
| Uitterlinden AG |
|
Uitterlinden |
André G |
AG |
|
Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. |
| Ikram MA |
|
Ikram |
M Arfan |
MA |
|
Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. |
| van Duijn CM |
|
van Duijn |
Cornelia M |
CM |
|
Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. |
| Nijsten T |
|
Nijsten |
Tamar |
T |
|
Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. |
| Walsh S |
|
Walsh |
Susan |
S |
|
Department of Biology, Indiana-University-Purdue-University-Indianapolis (IUPUI), Indianapolis, IN, USA. |
| Branicki W |
|
Branicki |
Wojciech |
W |
|
Central Forensic Laboratory of the Police, Warsaw, Poland. |
| Wang S |
|
Wang |
Sijia |
S |
|
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China. |
| Ruiz-Linares A |
|
Ruiz-Linares |
Andrés |
A |
|
Laboratory of Biocultural Anthropology, Law, Ethics, and Health (Centre National de la Recherche Scientifique and Etablissement Français du Sang), Aix-Marseille Université, Marseille, France. |
| Spector TD |
|
Spector |
Timothy D |
TD |
|
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. |
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. |
| Medland SE |
|
Medland |
Sarah E |
SE |
|
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. |
| Kayser M |
|
Kayser |
Manfred |
M |
|
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. |
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: 27 |
| ISSUE: 3 |
| TITLE: Human molecular genetics |
| ISOABBREVIATION: Hum Mol Genet |
| YEAR: 2018 |
| MONTH: 02 |
| DAY: 01 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1460-2083 |
| ISSNTYPE: Electronic |
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| MEDLINE JOURNAL |
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| MEDLINETA: Hum Mol Genet |
| COUNTRY: England |
| ISSNLINKING: 0964-6906 |
| NLMUNIQUEID: 9208958 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Meta-Analysis |
| Research Support, Non-U.S. Gov't |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GRANTID |
AGENCY |
COUNTRY |
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Wellcome Trust |
United Kingdom |
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| GENERAL NOTE |
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| KEYWORDS |
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| MESH HEADINGS |
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| DESCRIPTORNAME |
QUALIFIERNAME |
| Genetic Predisposition to Disease |
genetics |
| Genome-Wide Association Study |
methods |
| Hair |
physiology |
| Humans |
physiology |
| Polymorphism, Single Nucleotide |
genetics |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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| OTHER ID's |
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