Related Experiment Video
Updated: Jul 8, 2026

14:56
Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Association analysis of positional obesity candidate genes based on integrated data from transcriptomics and linkage
1Department of Biosciences and Nutrition, Clinical Research Center, Karolinska Institutet, Stockholm, Sweden.
International Journal of Obesity (2005)
|January 9, 2008
Summary
Researchers identified new obesity susceptibility genes by combining genetic and gene expression data. The PFKFB3 gene showed association with obesity and lower mRNA levels in obese women, suggesting its role in the disorder.
Area of Science:
- Genetics
- Molecular Biology
- Obesity Research
Background:
- Obesity is a complex disorder influenced by behavior and genetics.
- Identifying genetic predispositions is crucial for understanding obesity.
Purpose of the Study:
- To identify novel genes associated with obesity susceptibility.
- To investigate the role of gene expression in obesity.
Main Methods:
- Combined linkage and gene expression profile data from multiple cohorts.
- Quantified adipose tissue mRNA levels in 96 women.
- Genotyped two large cohorts (n=1013 and 1423) for obesity-associated polymorphisms.
Main Results:
- Confirmed association between adipose tissue mRNA levels and obesity.
- Identified single nucleotide polymorphism rs1064891 in the PFKFB3 gene associated with obesity (P=0.007).
- PFKFB3 showed association with BMI in men across lean to severe obesity categories (P≤0.005).
Conclusions:
- Combining linkage and expression data is effective for discovering obesity genes.
- PFKFB3, a glycolysis regulator, has decreased mRNA in obese women and is a promising obesity candidate gene.
Related Concept Videos
Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
Chromatin Position Affects Gene Expression
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Epistasis Analysis
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...