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

Title: Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.
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Name(s): Cole, Joanne B, author
Manyama, Mange, author
Kimwaga, Emmanuel, author
Mathayo, Joshua, author
Larson, Jacinda R, author
Liberton, Denise K, author
Lukowiak, Ken, author
Ferrara, Tracey M, author
Riccardi, Sheri L, author
Li, Mao, author
Mio, Washington, author
Prochazkova, Michaela, author
Williams, Trevor, author
Li, Hong, author
Jones, Kenneth L, author
Klein, Ophir D, author
Santorico, Stephanie A, author
Hallgrimsson, Benedikt, author
Spritz, Richard A, author
Type of Resource: text
Genre: Journal Article
Text
Date Issued: 2016-08-25
Physical Form: computer
online resource
Extent: 1 online resource
Language(s): English
Abstract/Description: The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human facial variation. To address this, we carried out 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. We tested for genetic association of facial shape and size phenotypes derived from 3D imaging and automated landmarking 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, we 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. Our 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.
Identifier: FSU_pmch_27560698 (IID), 10.1371/journal.pgen.1006174 (DOI), PMC4999243 (PMCID), 27560698 (RID), 27560698 (EID), PGENETICS-D-16-00752 (PII)
Grant Number: U01 DE020054, U01 DE024429, UL1 TR001082
Publication Note: This NIH-funded author manuscript originally appeared in PubMed Central at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999243.
Subject(s): 3',5'-Cyclic-AMP Phosphodiesterases/genetics
Adolescent
African Continental Ancestry Group
Animals
Carrier Proteins/genetics
Face/anatomy & histology
Female
Genome-Wide Association Study
Humans
Male
Maxillofacial Development/genetics
Mice
Morphogenesis/genetics
Phenotype
Polymorphism, Single Nucleotide
Tanzania
Persistent Link to This Record: http://purl.flvc.org/fsu/fd/FSU_pmch_27560698
Owner Institution: FSU
Is Part Of: PLoS genetics.
1553-7404
Issue: iss. 8, vol. 12

Choose the citation style.
Cole, J. B., Manyama, M., Kimwaga, E., Mathayo, J., Larson, J. R., Liberton, D. K., … Spritz, R. A. (2016). Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape. Plos Genetics. Retrieved from http://purl.flvc.org/fsu/fd/FSU_pmch_27560698