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Genetic variation at the FTO locus influences RBL2 gene expression
Jeremy B M Jowett1, Joanne E Curran, Matthew P Johnson
1Department of Genomics and Systems Biology, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia. jeremy.jowett@bakeridi.edu.au
Diabetes
|December 17, 2009
Summary
Genetic variations near the FTO gene influence RBL2 gene expression, not FTO itself. This finding aids in identifying disease-causal genes using large human cohort data.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Genome-wide association studies (GWAS) identify genomic loci associated with diseases but do not pinpoint causal genes.
- Identifying causal genes is crucial for understanding disease mechanisms and developing targeted therapies.
Purpose of the Study:
- To combine gene variation and expression data from a human cohort to identify causal genes underlying GWAS-identified loci.
- To investigate the relationship between a specific GWAS-identified locus (rs8050136 near FTO) and gene expression.
Main Methods:
- Collected global gene transcription data from 1,240 individuals in a human cohort.
- Correlated quantitative transcript data with genotype data from the same individuals to identify variant-influenced gene expression patterns.
Main Results:
- The variant rs8050136, associated with type 2 diabetes and obesity, did not significantly affect FTO gene expression (P = 0.38).
- This variant strongly correlated with the expression of RBL2, a gene located approximately 270,000 base pairs away from FTO (P = 2.7 x 10(-5)).
Conclusions:
- Genetic variants near FTO can influence the expression of distant genes like RBL2, revealing complex transcriptional regulation.
- Large human cohorts with both genetic variation and gene expression data are essential for efficiently identifying disease-associated genes and advancing mechanistic studies.
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