Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair
文献类型：期刊论文
| 作者 | Liu, Fan16,17,18; Chen, Yan16,18; Zeng, Changqing18; Kayser, Manfred17; Wu, Sijie16; Peng, Fuduan16; Jin, Li1,16,26; Wang, Sijia1,13,16,26; Zhu, Gu15; Martin, Nicholas G.15 |
| 刊名 | HUMAN MOLECULAR GENETICS
 |
| 出版日期 | 2018 |
| 卷号 | 27期号:3页码:559-575 |
| 关键词 | mineralocorticoid receptor endothelial cells angiogenesis STAT3 |
| ISSN号 | 0964-6906 |
| DOI | 10.1093/hmg/ddx416 |
| 文献子类 | Article |
| 英文摘要 | 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. |
| 学科主题 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| WOS关键词 | GROWTH-FACTOR RECEPTOR ; ECTODERMAL DYSPLASIA ; SKIN ; EXPRESSION ; FOLLICLE ; COLOR ; GENE ; ABNORMALITIES ; POPULATION ; MUTATIONS |
| 语种 | 英语 |
| WOS记录号 | WOS:000424136000014 |
| 出版者 | OXFORD UNIV PRESS |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/550]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Fudan Univ, State Key Lab Genet Engn, Shanghai, Peoples R China; 2.Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil; 3.Univ Tarapaca, Inst Alta Invest, Arica, Chile; 4.Univ Peruana Cayetano Heredia, Fac Ciencias & Filosofia, Lab Invest & Desarrollo, Lima, Peru; 5.Univ Antioquia, GENMOL Genet Mol, Medellin, Colombia; 6.Univ Nacl Autonoma Mexico, Inst Nacl Med Genom, Fac Quim, Unidad Genom Poblac Aplicada Salud, Mexico City, DF, Mexico; 7.Escuela Nacl Antropol & Hist, Lab Genet Mol, Mexico City, DF, Mexico; 8.Erasmus MC Univ, Med Ctr Rotterdam, Dept Dermatol, Rotterdam, Netherlands; 9.Jagiellonian Univ, Malopolska Ctr Biotechnol, Krakow, Poland; 10.Jagiellonian Univ, Fac Biol & Earth Sci, Inst Zool & Biomed Res, Krakow, Poland; |
| 推荐引用方式 GB/T 7714 | Liu, Fan,Chen, Yan,Zeng, Changqing,et al. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair[J]. HUMAN MOLECULAR GENETICS,2018,27(3):559-575. |
| APA | Liu, Fan.,Chen, Yan.,Zeng, Changqing.,Kayser, Manfred.,Wu, Sijie.,...&,.(2018).Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.HUMAN MOLECULAR GENETICS,27(3),559-575. |
| MLA | Liu, Fan,et al."Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair".HUMAN MOLECULAR GENETICS 27.3(2018):559-575. |
入库方式： OAI收割
来源：上海营养与健康研究所
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