Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape

• NCJ Number: 251308
• Journal: PLoS Genetics Volume: 12 Issue: 8 Dated: August 2016
• Author(s): J. B. Cole; M. Manyama; E. Kimwaga; J. Mathayo; J. R. Larson; D. K. Liberton; K. Lukowiak; T. M. Ferrara; S. L. Riccardi; M. Li; W. Mio; M Prochazkova; T. Williams; H. Li; K. L. Jones; O. D. Klein; S. A. Santorico; B. Hallgrimsson; R. A. Spritz
• Date Published: August 2016
• Length: 17 pages
• Grant Number(s): 2013-DN-BX-K005
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical); Report (Study/Research); Report (Grant Sponsored); Program/Project Description

Annotation

Since relatively little is known about the genetic underpinnings of normal human facial variation, this study conducted a large genomewide association study and two independent replication studies of Bantu African children and adolescents from Mwanza, Tanzania, a region that is both genetically and environmentally relatively homogeneous.

Abstract

The study tested for genetic association of facial shape and size phenotypes derived from 3D imaging and automated land marking of standard facial morphometric points. SNPs within genes SCHIP1 and PDE8A were associated with measures of facial size in both the GWAS and replication cohorts and passed a stringent genomewide significance threshold adjusted for multiple testing of 34 correlated traits. For both SCHIP1 and PDE8A, the study demonstrated clear expression in the developing mouse face by both whole-mount in situ hybridization and RNA-seq, supporting their involvement in facial morphogenesis. Ten additional loci demonstrated suggestive association with various measures of facial shape. The findings, which differ from those in previous studies of European-derived Whites, augment understanding of the genetic basis of normal facial development, and provide insights relevant to both human disease and forensics. (Publisher abstract modified)