3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies

• NCJ Number: 304113
• Journal: PLoS Genetics Volume: 17 Issue: 5 Dated: May 2021
• Author(s): H. Hoskens; et al
• Date Published: May 2021
• Grant Number(s): 2015-R2-CX-0023; 2018-DU-BX-0219; 2014-DN-BX-K031; 2008-DN-BX-K125
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical)
• Award: Improving the prediction of human quantitative pigmentation traits such as eye, hair and skin color using a worldwide representation panel of US and European individuals; An Investigation into the genetic basis of human facial morphology and its prediction from DNA, using a globally distributed panel of individuals from the US and Europe.; Ensuring standards and enhancing the field of predictive biometrics using a globally-diverse genotype-phenotype database

Annotation

This article reports on a data-driven, family-informed strategy for facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D facial shape variability into amendable univariate measurements, while preserving its structurally complex nature.

Abstract

The project performed a biometric identification of siblings in a sample of 424 children, defining 1,048 sib-shared facial traits. Subsequent quantification and analyses in an independent European cohort (n = 8,246) demonstrated significant heritability for a subset of traits (0.17–0.53) and highlighted 218 genome-wide significant loci (38 also study-wide) associated with facial variation shared by siblings. These loci showed preferential enrichment for active chromatin marks in cranial neural crest cells and embryonic craniofacial tissues and several regions harbor putative craniofacial genes, thereby enhancing  knowledge on the genetic architecture of normal-range facial variation. (publisher abstract modified)