全基因组关联研究揭示了与面部形态的新关联。

IF 2.6 3区 综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES
PLoS ONE Pub Date : 2025-02-10 eCollection Date: 2025-01-01 DOI:10.1371/journal.pone.0299660
Aamer Alshehhi, Mira Mousa, Guan K Tay, Naoufel Werghi, Habiba AlSafar
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引用次数: 0

摘要

包括阿拉伯联合酋长国(UAE)在内的中东人口的全基因组关联研究(GWAS)相对有限。本研究旨在通过全基因组关联研究(GWAS)调查阿联酋人群的基因型-面部形态关联。通过三维(3D)扫描技术和自动面部标记技术获得172名阿联酋人的表型数据(44项面部测量)。GWAS分析显示19个基因位点与6个面部特征相关,其中14个是新发现的。GWAS分析显示,44个人脸参数与242个snp之间存在11个显著相关,超过GWAS显著性阈值。这些表型以前与身高、颅面缺陷和面部特征有关。这些遗传变异最显著的关联与面部凸起、左眼眶突出、下颌轮廓、鼻唇角D、下面部角B和下面部角a六个主要面部特征有关。据我们所知,这是第一个GWAS研究中东人群中SNP变异与面部形态的关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genome wide association study reveals novel associations with face morphology.

Genome-wide association studies (GWAS) on the Middle Eastern population, including the United Arab Emirates (UAE), have been relatively limited. The present study aims to investigate genotype-face morphology associations in the UAE population through Genome Wide Association Studies (GWAS). Phenotypic data (44 face measurements) from 172 Emiratis was obtained through three-dimensional (3D) scanning technology and an automatic face landmarking technique. GWAS analysis revealed associations of 19 genetic loci with six face features, 14 of which are novel. The GWAS analysis revealed 11 significant relationships between 44 face parameters and 242 SNPs, exceeding the GWAS significance threshold. These phenotypes were previously associated with body height, craniofacial defects, and facial characters. The most significant associations of these genetic variations were related to six main facial features which were facial convexity, left orbital protrusion, mandibular contour, nasolabial angle D, inferior facial angle B, and inferior facial angle A. To the best of our knowledge, this is the first GWAS study to investigate the association of SNP variations with face morphology in the Middle Eastern population.

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来源期刊
PLoS ONE
PLoS ONE 生物-生物学
CiteScore
6.20
自引率
5.40%
发文量
14242
审稿时长
3.7 months
期刊介绍: PLOS ONE is an international, peer-reviewed, open-access, online publication. PLOS ONE welcomes reports on primary research from any scientific discipline. It provides: * Open-access—freely accessible online, authors retain copyright * Fast publication times * Peer review by expert, practicing researchers * Post-publication tools to indicate quality and impact * Community-based dialogue on articles * Worldwide media coverage
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