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Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape
JB. Cole, M. Manyama, E. Kimwaga, J. Mathayo, JR. Larson, DK. Liberton, K. Lukowiak, TM. Ferrara, SL. Riccardi, M. Li, W. Mio, M. Prochazkova, T. Williams, H. Li, KL. Jones, OD. Klein, SA. Santorico, B. Hallgrimsson, RA. Spritz,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
NLK
Directory of Open Access Journals
od 2005
Free Medical Journals
od 2005
Public Library of Science (PLoS)
od 2005-07-01
PubMed Central
od 2005
Europe PubMed Central
od 2005
ProQuest Central
od 2005-07-01
Open Access Digital Library
od 2005-07-01
Open Access Digital Library
od 2005-01-01
Open Access Digital Library
od 2005-01-01
Medline Complete (EBSCOhost)
od 2005-07-01
Health & Medicine (ProQuest)
od 2005-07-01
- MeSH
- cAMP-fosfodiesterasy genetika MeSH
- celogenomová asociační studie * MeSH
- černoši MeSH
- fenotyp MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- maxilofaciální vývoj genetika MeSH
- mladiství MeSH
- morfogeneze genetika MeSH
- myši MeSH
- obličej anatomie a histologie MeSH
- transportní proteiny genetika MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- myši MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Tanzanie MeSH
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.
Department of Anatomy Catholic University of Health and Allied Sciences Mwanza Tanzania
Department of Mathematics Florida State University Tallahassee Florida United States of America
Hotchkiss Brain Institute Cummings School of Medicine University of Calgary Calgary Canada
Citace poskytuje Crossref.org
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