@article {315330,
	title = {Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair},
	journal = {Human Molecular Genetics},
	year = {2017},
	note = {<p>10.1093/hmg/ddx416</p>
},
	month = {2017/12/06},
	pages = {ddx416 - ddx416},
	abstract = {<p>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 \&lt; 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 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 to a previous model. Prediction outcomes of 2,504 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.</p>
},
	isbn = {0964-6906},
	doi = {http://dx.doi.org/10.1093/hmg/ddx416},
	url = {https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddx416/4693879},
	author = {Liu, Fan and Chen, Yan and Zhu, Gu and Hysi, Pirro G and Wu, Sijie and Adhikari, Kaustubh and Breslin, Krystal and Po{\'s}piech, Ewelina and Hamer, Merel A and Peng, Fuduan and Muralidharan, Charanya and Acu{\~n}a-Alonzo, Victor and Canizales-Quinteros, Samuel and Bedoya, Gabriel and Gallo, Carla and Poletti, Giovanni and Rothhammer, Francisco and Bortolini, Maria C{\'a}tira and Gonz{\'a}lez-Jos{\'e}, Rolando and Zeng, Changqing and Xu, Shuhua and Jin, Li and Uitterlinden, Andre G and Ikram, M Arfan and van Duijn, Cornelia M and Nijsten, Tamar and Walsh, Susan and Branicki, Wojciech and Wang, Sijia and Ruiz-Linares, Andres and Spector, Timothy D and Martin, Nicholas G and Medland, Sarah E and Kayser, Manfred}
}
