3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies
Abstract
The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report on a data-driven, family-informed strategy to 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. We 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 our knowledge on the genetic architecture of normal-range facial variation.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- May 13, 2021
- Source ID
- 10.1371/journal.pgen.1009528
Entities
People
- Dongjing Liu
- Greet Hens
- Hanne Hoskens
- Hilde Peeters
- Jiarui Li
- Joanna Wysocka
- John R. Shaffer
- Julie D White
- Karlijne Indencleef
- Maarten Larmuseau
- Mark D. Shriver
- Myoung Keun Lee
- Peter Claes
- Ryan J Eller
- Sahin Naqvi
- Seth M Weinberg
- Stephen Richmond
- Susan Walsh
Organizations
- Howard Hughes Medical Institute
- March of Dimes
- Medical Research Council
- National Human Genome Research Institute
- National Institute of Dental and Craniofacial Research
- National Institute of Justice
- National Institutes of Health
- United States Department of Defense
- University of Bristol
- University of Illinois Urbana–Champaign