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Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

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dc.contributor.author Wu, Sijie
dc.contributor.author Zhang, Manfei
dc.contributor.author Yang, Xinzhou
dc.contributor.author Peng, Fuduan
dc.contributor.author Zhang, Juan
dc.contributor.author Tan, Jingze
dc.contributor.author Yang, Yajun
dc.contributor.author Wang, Lina
dc.contributor.author Hu, Yanan
dc.contributor.author Peng, Qianqian
dc.contributor.author Li, Jinxi
dc.contributor.author Liu, Yu
dc.contributor.author Guan, Yaqun
dc.contributor.author Chen, Chen
dc.contributor.author Hamer, Merel A.
dc.contributor.author Nijsten, Tamar
dc.contributor.author Zeng, Changqing
dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, Giovanni
dc.contributor.author Schuler-Faccini, Lavinia
dc.contributor.author Bortolini, Maria-Cátira
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Bedoya, Gabriel
dc.contributor.author González-José, Rolando
dc.contributor.author Li, Hui
dc.contributor.author Krutmann, Jean
dc.contributor.author Liu, Fan
dc.contributor.author Kayser, Manfred
dc.contributor.author Ruiz-Linares, Andres
dc.contributor.author Tang, Kun
dc.contributor.author Xu, Shuhua
dc.contributor.author Zhang, Liang
dc.contributor.author Jin, Li
dc.contributor.author Wang, Sijia
dc.date.accessioned 2018-11-30T03:10:47Z
dc.date.available 2018-11-30T03:10:47Z
dc.date.issued 2018
dc.identifier.uri https://hdl.handle.net/20.500.12866/4081
dc.description.abstract 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 SOX2 (rs1345417: P = 6.51×10-10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10-8). 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 = 5.81×10-11) near EDAR. 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 SOX2 and FOXD1 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. en_US
dc.language.iso eng
dc.publisher Public Library of Science
dc.relation.ispartofseries PLoS Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Single nucleotide polymorphisms en_US
dc.subject Genome-wide association studies en_US
dc.subject Cloning en_US
dc.subject Genomics en_US
dc.subject Genomic signal processing en_US
dc.subject Han Chinese people en_US
dc.subject Latin American people en_US
dc.subject Genetic loci en_US
dc.title Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1371/journal.pgen.1007640
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.03
dc.relation.issn 1553-7404


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