ID
45862
Description
Principal Investigator: Greg Gibson, PhD, School of Biology and Center for Integrative Genomics, Georgia Institute of Technology, GA, USA MeSH: Wellness Center,Metabolic Syndrome X,Biological Aging https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001021 In order to evaluate whether rare regulatory variants in the vicinity of promoters are likely to impact gene expression, we conducted a novel burden test for rare variants at the extreme of expression. After targeted sequencing of 2kb promoter regions of 472 genes in 410 healthy adults, burden tests were performed by calculating the summed rare allele counts in ranked expression level bins using Illumina whole blood microarray gene expression data. The results clearly show an enrichment of rare variants at both extremes of gene expression. The rare regulatory variant effects were also partitioned into subsets of genes based on their regulatory functions, positions relative to transcription start sites, disease relatedness, with some intriguing biases. The enrichment of rare regulatory variants in extremely expressed genes was replicated in an independent sample of 75 individuals with RNASeq and whole genome sequence information. Participants were from the Emory-Georgia Tech Center for Health Discovery and Well Being (CHDWB) longitudinal cohort study, but only baseline gene expression data was used.
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- 10/9/23 10/9/23 - Simon Heim
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Greg Gibson, PhD, School of Biology and Center for Integrative Genomics, Georgia Institute of Technology, GA, USA
Uploaded on
October 9, 2023
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Creative Commons BY 4.0
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dbGaP phs001021 Center for Health Discovery and Well Being (CHDWB)
The subject consent file includes subject IDs, consent information, subject aliases and case control status of the subject. All subjects are healthy adults.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases and case control status of the subject. All subjects are healthy adults.
- 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 ID, subject's BMI, age, gender and ethnicity.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and name of the center which conducted sequencing.
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The subject consent file includes subject IDs, consent information, subject aliases and case control status of the subject. All subjects are healthy adults.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases and case control status of the subject. All subjects are healthy adults.
- 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 ID, subject's BMI, age, gender and ethnicity.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and name of the center which conducted sequencing.
C0441833 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])