Richmond Stephen, Howe Laurence J, Lewis Sarah, Stergiakouli Evie, Zhurov Alexei
Applied Clinical Research and Public Health, School of Dentistry, College of Biomedical and Life Sciences, Cardiff University, Cardiff, United Kingdom.
MRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Front Genet. 2018 Oct 16;9:462. doi: 10.3389/fgene.2018.00462. eCollection 2018.
Historically, craniofacial genetic research has understandably focused on identifying the causes of craniofacial anomalies and it has only been within the last 10 years, that there has been a drive to detail the biological basis of normal-range facial variation. This initiative has been facilitated by the availability of low-cost hi-resolution three-dimensional systems which have the ability to capture the facial details of thousands of individuals quickly and accurately. Simultaneous advances in genotyping technology have enabled the exploration of genetic influences on facial phenotypes, both in the present day and across human history. There are several important reasons for exploring the genetics of normal-range variation in facial morphology. - Disentangling the environmental factors and relative parental biological contributions to heritable traits can help to answer the age-old question "why we look the way that we do?" - Understanding the etiology of craniofacial anomalies; e.g., unaffected family members of individuals with non-syndromic cleft lip/palate (nsCL/P) have been shown to differ in terms of normal-range facial variation to the general population suggesting an etiological link between facial morphology and nsCL/P. - Many factors such as ancestry, sex, eye/hair color as well as distinctive facial features (such as, shape of the chin, cheeks, eyes, forehead, lips, and nose) can be identified or estimated using an individual's genetic data, with potential applications in healthcare and forensics. - Improved understanding of historical selection and adaptation relating to facial phenotypes, for example, skin pigmentation and geographical latitude. - Highlighting what is known about shared facial traits, medical conditions and genes.
从历史上看,颅面遗传学研究自然而然地聚焦于确定颅面异常的成因,而直到最近十年,才开始有人致力于详细阐述正常范围内面部变异的生物学基础。低成本高分辨率三维系统的出现推动了这一进程,这类系统能够快速、准确地捕捉数千人的面部细节。与此同时,基因分型技术的进步使得人们能够在当今以及整个人类历史中探索基因对面部表型的影响。探索面部形态正常范围变异的遗传学有几个重要原因。
区分环境因素和父母对遗传性状的相对生物学贡献,有助于回答这个由来已久的问题:“为什么我们长成这样?”
了解颅面异常的病因;例如,非综合征性唇腭裂(nsCL/P)患者的未受影响家庭成员在正常范围内的面部变异与普通人群不同,这表明面部形态与nsCL/P之间存在病因学联系。
利用个体的基因数据可以识别或估计许多因素,如血统、性别、眼睛/头发颜色以及独特的面部特征(如下巴、脸颊、眼睛、额头、嘴唇和鼻子的形状),在医疗保健和法医学方面有潜在应用。
更好地理解与面部表型相关的历史选择和适应性,例如皮肤色素沉着和地理纬度。
突出关于共同面部特征、疾病状况和基因的已知信息。