ID
45921
Descrição
Principal Investigator: Seth M. Weinberg, PhD, University of Pittsburgh, Pittsburgh, PA, USA MeSH: Anthropometry,Cephalometry,Head,Face,Imaging, Three-Dimensional,Stereophotogrammetry https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000949 The purpose of this project is to identify genes associated with normal human quantitative facial variation. The motivation for this project stems from the fact that very little is known about how variation in specific genes relates to the diversity of facial forms commonly observed in humans. Viable candidates for these morphogenes originate from a number of sources: tissue expression studies, animal models with targeted or spontaneous mutations, and genetic syndromes with craniofacial manifestations. Importantly, understanding the genetic basis for normal facial variation also has important implications for health-related research. For example, this work has the potential to shed light on the factors influencing liability to common craniofacial anomalies such as orofacial clefts. There is now ample evidence that certain facial features (e.g., increased midfacial retrusion) characterize individuals genetically at-risk for orofacial clefts (e.g., biological relatives of affected cases). While these predisposing facial features are statistically over-represented in at-risk groups, they are also common in the general population. Since many of the current candidate genes for clefting are thought to play a critical role in facial morphogenesis, variation in these genes may also underlie normal variation in these facial features. These candidate genes, however, probably represent only a small fraction of the total number of loci influencing normal human facial variation. Phenotypes for this project were obtained from over 3000 healthy Caucasian subjects recruited through three separate studies. The majority of the subjects were recruited as part of the 3D Facial Norms Project, which is described in extensive detail here: (https://www.facebase.org/facial_norms/notes). The provided dbGaP phenotypes include a series of anthropometric craniofacial measurements (linear distances) primarily derived from 3D photographic facial surface scans (see previous hyperlink). The specific genotyping requested is described elsewhere in this document. Our analysis team is pursuing a variety of different analytic approaches to derive genetically informative phenotypes, including various shape-based morphometric methods. For those interested in pursuing more advanced phenotypic approaches, the original 3D surface scans and additional phenotypic traits are available to researchers through the FaceBase Consortium. This dataset has the potential to facilitate the discovery of new genetic loci with an important role in both normal and abnormal facial development. It may also serve as a dataset to test hypotheses regarding specific SNP associations (e.g. as a replication dataset) or as part of a larger meta-analysis.
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Versões (1)
- 07/02/2024 07/02/2024 - Simon Heim
Titular dos direitos
Seth M. Weinberg, PhD, University of Pittsburgh, Pittsburgh, PA, USA
Transferido a
7 de fevereiro de 2024
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000949 Genetic Analysis of Normal Human Facial Variation
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and subject aliases.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects..
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes sex, age, race, ethnicity, height, weight, head measurements (n=3 variables; cranial width and head circumference), facial measurements (n=18 variables; upper/mid/lower face depth and morphological facial height), eye measurements (n=8 variables; inter-/outercanthal width and palpebral fissure lengths), nasal measurements (n=14 variables; nasal width, ala and bridge lengths, height, and protrusion), and lip measurements (n=16 variables; labial fissure width, philtrum width and length, upper/lower vermilion and lip height).
- This sample attributes table includes body site where sample was collected, analyte type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and subject aliases.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects..
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes sex, age, race, ethnicity, height, weight, head measurements (n=3 variables; cranial width and head circumference), facial measurements (n=18 variables; upper/mid/lower face depth and morphological facial height), eye measurements (n=8 variables; inter-/outercanthal width and palpebral fissure lengths), nasal measurements (n=14 variables; nasal width, ala and bridge lengths, height, and protrusion), and lip measurements (n=16 variables; labial fissure width, philtrum width and length, upper/lower vermilion and lip height).
- This sample attributes table includes body site where sample was collected, analyte type, and tumor status.
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