10.1371/journal.pgen.1007640
Sijie Wu
Sijie
Wu
Manfei Zhang
Manfei
Zhang
Xinzhou Yang
Xinzhou
Yang
Fuduan Peng
Fuduan
Peng
Juan Zhang
Juan
Zhang
Jingze Tan
Jingze
Tan
Yajun Yang
Yajun
Yang
Lina Wang
Lina
Wang
Yanan Hu
Yanan
Hu
Qianqian Peng
Qianqian
Peng
Jinxi Li
Jinxi
Li
Yu Liu
Yu
Liu
Yaqun Guan
Yaqun
Guan
Chen Chen
Chen
Chen
Merel A. Hamer
Merel A.
Hamer
Tamar Nijsten
Tamar
Nijsten
Changqing Zeng
Changqing
Zeng
Kaustubh Adhikari
Kaustubh
Adhikari
Carla Gallo
Carla
Gallo
Giovanni Poletti
Giovanni
Poletti
Lavinia Schuler-Faccini
Lavinia
Schuler-Faccini
Maria-Cátira Bortolini
Maria-Cátira
Bortolini
Samuel Canizales-Quinteros
Samuel
Canizales-Quinteros
Francisco Rothhammer
Francisco
Rothhammer
Gabriel Bedoya
Gabriel
Bedoya
Rolando González-José
Rolando
González-José
Hui Li
Hui
Li
Jean Krutmann
Jean
Krutmann
Fan Liu
Fan
Liu
Manfred Kayser
Manfred
Kayser
Andres Ruiz-Linares
Andres
Ruiz-Linares
Kun Tang
Kun
Tang
Shuhua Xu
Shuhua
Xu
Liang Zhang
Liang
Zhang
Li Jin
Li
Jin
Sijia Wang
Sijia
Wang
Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans
Public Library of Science
2018
Han
East Asian-European admixture
human
eyebrow thickness
SOX 2
Uyghur
3 q 26.33
signal
EDAR
GWAS
subject
genome-wide significance
2 q 12.3
Genome-wide association studies
CANDELA
Latin American countries
5 q 13.2
editing
evidence
FOXD 1 genes
variant
CRISPR
Rotterdam Study cohort
2018-09-24 17:26:11
Dataset
https://plos.figshare.com/articles/dataset/Genome-wide_association_studies_and_CRISPR_Cas9-mediated_gene_editing_identify_regulatory_variants_influencing_eyebrow_thickness_in_humans/7123484
<div><p>Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near <i>SOX2</i> (rs1345417: P = 6.51×10<sup>−10</sup>) and at 5q13.2 near <i>FOXD1</i> (rs12651896: P = 1.73×10<sup>−8</sup>). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10<sup>−11</sup>) near <i>EDAR</i>. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby <i>SOX2</i> and <i>FOXD1</i> genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the populations tested. Contrary to popular speculation, we found no evidence that eyebrow thickness is subject to strong selective pressure.</p></div>