The genetics of human physical appearance

人类外貌的遗传学

• 批准号: BB/I021213/1
• 负责人: Andres Ruiz-Linares
• 金额: $ 107.93万
• 依托单位: University College London
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2012
• 资助国家: 英国
• 起止时间: 2012 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=BB%2FI021213%2F1
• 关键词: genetics; human; physical; appearance

Despite its great biological and social importance the genetic basis of variation in human physical appearance is poorly understood. Identical twins share all of their genes and show striking physical resemblance, while more distant relatives tend to look less alike the less closely related they are. This variation in degree of family resemblance suggests that many genes influence physical appearance. However, few of the genes have been identified. The aim of this proposal is to identify genetic variants influencing a selection of such features: body size and shape, pigmentation (of hair, skin and eyes), facial features, type of hair, baldness and hair greying. To facilitate this task we propose to study Latin American populations which represent a mixture of different continental populations (Europeans, Native Amerindians and Africans). These continental populations have quite differentiated physical features and provide us with higher statistical power for detecting genetic effects. With independent funding we are recruiting over 7,500 Latin American research volunteers (from Mexico, Colombia, Peru, Chile and Brazil) and we are characterizing their physical appearance. We record face features using photographs and specialized imaging processing techniques, skin using an instrument allowing colour measurement and the other features through physical examination. Here we request funding for the genetic analysis of this sample. Initially we propose to examine the entire human genome in 3000 individuals using about ~300,000 genetic markers. This information will be used (together with the human genome sequence) to identify regions showing association with the physical characteristics of the individuals. The regions showing association will then be examined in the rest of the Latin American cohort (an additional 4,500 individuals) and in European cohorts being studied by collaborators (comprising over 20,000 individuals). In this way we will confirm our findings. We will then use statistical techniques to evaluate if these variants can predict the physical characteristics of unknown individuals based only on a DNA sample. Identification of genes involved in physical appearance has a number of important consequences for basic biological research, such as examining the evolution of this traits and optimize their use in studies on human origins and diversification. This work will also have important biomedical implications as the genes identified could be involved in human disorders (of development pigmentation, aging and skin cancer). This work will also lay the foundation for the development of an entire new field of forensic genetics: the reconstruction of an individual's physical appearance based on a DNA sample. Finally, our proposal will inform the public about aspects of the relationship between genetics, ethnic identity and race.

尽管它在生物学和社会上具有重要意义，但人类外貌变异的遗传基础却知之甚少。同卵双胞胎共享他们所有的基因，并表现出惊人的身体相似性，而越远的亲戚往往看起来越不相似，他们的关系越不密切。这种家族相似程度的差异表明，许多基因影响着外貌。然而，很少有基因被发现。该提案的目的是确定影响以下特征选择的遗传变异：体型和形状、色素沉着（头发、皮肤和眼睛）、面部特征、头发类型、秃顶和头发变灰。为了促进这一任务，我们建议研究拉丁美洲人口代表不同大陆人口（欧洲人，美洲印第安人和非洲人）的混合。这些大陆人群有相当分化的物理特征，并为我们提供了更高的统计能力检测遗传效应。在独立的资金支持下，我们正在招募超过7，500名拉丁美洲研究志愿者（来自墨西哥，哥伦比亚，秘鲁，智利和巴西），我们正在描述他们的外表。我们使用照片和专门的图像处理技术记录面部特征，使用允许颜色测量的仪器记录皮肤，并通过体检记录其他特征。在此，我们请求为该样本的遗传分析提供资金。最初，我们计划使用大约30万个遗传标记来检查3000个个体的整个人类基因组。这些信息将（与人类基因组序列一起）用于确定与个人身体特征相关的区域。然后将在拉丁美洲队列的其余部分（另外4，500人）和合作者正在研究的欧洲队列（包括20，000多人）中检查显示关联的区域。我们将通过这种方式来证实我们的发现。然后，我们将使用统计技术来评估这些变异是否可以仅基于DNA样本预测未知个体的物理特征。识别与身体外观有关的基因对基础生物学研究有许多重要的影响，例如研究这种特征的进化，并优化它们在人类起源和多样化研究中的应用。这项工作也将具有重要的生物医学意义，因为所确定的基因可能与人类疾病（发育色素沉着，衰老和皮肤癌）有关。这项工作还将为法医遗传学的一个全新领域的发展奠定基础：根据DNA样本重建个人的外貌。最后，我们的提案将向公众介绍遗传学、民族认同和种族之间关系的各个方面。

项目成果

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

拉丁美洲的 GWAS 识别出新的面部形状基因座，暗示面部变异中的 VPS13B 和丹尼索瓦人渗入区域

• DOI: 10.1126/sciadv.abc6160
• 发表时间: 2021-03
• 期刊: Science advances
• 影响因子: 13.6
• 作者: Bonfante B;Faux P;Navarro N;Mendoza-Revilla J;Dubied M;Montillot C;Wentworth E;Poloni L;Varón-González C;Jones P;Xiong Z;Fuentes-Guajardo M;Palmal S;Chacón-Duque JC;Hurtado M;Villegas V;Granja V;Jaramillo C;Arias W;Barquera R;Everardo-Martínez P;Sánchez-Quinto M;Gómez-Valdés J;Villamil-Ramírez H;Silva de Cerqueira CC;Hünemeier T;Ramallo V;Liu F;Weinberg SM;Shaffer JR;Stergiakouli E;Howe LJ;Hysi PG;Spector TD;Gonzalez-José R;Schüler-Faccini L;Bortolini MC;Acuña-Alonzo V;Canizales-Quinteros S;Gallo C;Poletti G;Bedoya G;Rothhammer F;Thauvin-Robinet C;Faivre L;Costedoat C;Balding D;Cox T;Kayser M;Duplomb L;Yalcin B;Cotney J;Adhikari K;Ruiz-Linares A
• 通讯作者: Ruiz-Linares A

A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

• DOI: 10.1038/ncomms10815
• 发表时间: 2016-03-01
• 期刊: Nature communications
• 影响因子: 16.6
• 作者: Adhikari K;Fontanil T;Cal S;Mendoza-Revilla J;Fuentes-Guajardo M;Chacón-Duque JC;Al-Saadi F;Johansson JA;Quinto-Sanchez M;Acuña-Alonzo V;Jaramillo C;Arias W;Barquera Lozano R;Macín Pérez G;Gómez-Valdés J;Villamil-Ramírez H;Hunemeier T;Ramallo V;Silva de Cerqueira CC;Hurtado M;Villegas V;Granja V;Gallo C;Poletti G;Schuler-Faccini L;Salzano FM;Bortolini MC;Canizales-Quinteros S;Rothhammer F;Bedoya G;Gonzalez-José R;Headon D;López-Otín C;Tobin DJ;Balding D;Ruiz-Linares A
• 通讯作者: Ruiz-Linares A

A genome-wide association study identifies multiple loci for variation in human ear morphology.

• DOI: 10.1038/ncomms8500
• 发表时间: 2015-06-24
• 期刊: NATURE COMMUNICATIONS
• 影响因子: 16.6
• 作者: Adhikari, Kaustubh;Reales, Guillermo;Smith, Andrew J. P.;Konka, Esra;Palmen, Jutta;Quinto-Sanchez, Mirsha;Acuna-Alonzo, Victor;Jaramillo, Claudia;Arias, William;Fuentes, Macarena;Pizarro, Maria;Barquera Lozano, Rodrigo;Macin Perez, Gaston;Gomez-Valdes, Jorge;Villamil-Ramirez, Hugo;Hunemeier, Tabita;Ramallo, Virginia;Silva de Cerqueira, Caio C.;Hurtado, Malena;Villegas, Valeria;Granja, Vanessa;Gallo, Carla;Poletti, Giovanni;Schuler-Faccini, Lavinia;Salzano, Francisco M.;Bortolini, Maria-Catira;Canizales-Quinteros, Samuel;Rothhammer, Francisco;Bedoya, Gabriel;Calderon, Rosario;Rosique, Javier;Cheeseman, Michael;Bhutta, Mahmood F.;Humphries, Steve E.;Gonzalez-Jose, Rolando;Headon, Denis;Balding, David;Ruiz-Linares, Andres
• 通讯作者: Ruiz-Linares, Andres

A global reference for human genetic variation.

• DOI: 10.1038/nature15393
• 发表时间: 2015-10-01
• 期刊: Nature
• 影响因子: 64.8
• 作者: 1000 Genomes Project Consortium;Auton A;Brooks LD;Durbin RM;Garrison EP;Kang HM;Korbel JO;Marchini JL;McCarthy S;McVean GA;Abecasis GR
• 通讯作者: Abecasis GR