ID
45785
Descripción
Principal Investigator: Azeez Butali, PhD, University of Iowa, Iowa City, IA, USA MeSH: Cleft Lip,Cleft Palate,Orofacial Cleft 1,Mouth Abnormalities https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001090 *The focus of this project is to identify genetic variants that are associated with orofacial clefts in African populations in sub-Saharan Africa*. Most genetic studies of CLP (including the vast majority of GWAS) have been conducted in populations of European origin with only a few focused on Asian or African populations. We choose to study the genetics of these complex traits in African populations because, African populations have the greatest genetic variation amongst the various populations in the world by virtue of being the primary ancestral population to modern humans (Cavalli-Sforza and Feldman, 2003; Ramsay et al., 2011). Therefore, the potential for finding novel loci for CLP is quite high. To date 6 genome wide association studies (GWAS) for cleft lip with or without cleft palate (CL/P) have been conducted and 18 risk loci identified (Birnbaum et al., 2009; Grant et al., 2009 ; Beaty et al., 2010; Mangold et al., 2010; Ludwig et al., 2012; Sun et al., 2015). All these studies have either been conducted in European populations, Asian populations or both. There is currently no published GWAS for clefts in African populations. African populations represent a novel and richly productive populations for genetic and environmental exposure studies for CL/P. Investigating the presence of genetic variants in diverse population groups can identify novel variants and candidate genes that are population specific. Environmental factors may also increase the risks in certain population groups due to genetic susceptibility and/or specific exposures. Understanding the role these susceptibility genes play in the effects of environmental risk factors can inform strategies designed towards reducing the outcome of these complex traits, e.g. through the modification of the environmental influences. The study population comprises a large number of individuals (3205 individuals) from Africa (Ghana, Ethiopia and Nigeria). There are cases, case triads (nuclear families), as well as controls with no history of OFC nor other developmental defects.
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Versiones (1)
- 21.06.23 21.06.23 - Chiara Middel
Titular de derechos de autor
Azeez Butali, PhD, University of Iowa, Iowa City, IA, USA
Subido en
21. Juni 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs001090 GWAS for Non-syndromic Clefts in the African Population: CIDR
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and subject aliases.
- The subject pedigree table contains family ID, subject ID, father ID, mother ID, sex, and superfamily ID.
- This data table contains 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 contains subject IDs, sex, member of a family with a history of craniofacial clefting or not, affection status of the subject for cleft, country, race, ethnicity, and cleft type.
- This sample attributes table contains sample IDs, body site, analyte type, and tumor status.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and subject aliases.
- The subject pedigree table contains family ID, subject ID, father ID, mother ID, sex, and superfamily ID.
- This data table contains 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 contains subject IDs, sex, member of a family with a history of craniofacial clefting or not, affection status of the subject for cleft, country, race, ethnicity, and cleft type.
- This sample attributes table contains sample IDs, body site, analyte type, and tumor status.
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