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Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI
Kyong Soo Park1, Hyoung Doo Shin, Byung Lae Park
1Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Human Mutation
|February 16, 2005
Summary
Genetic variations in the transforming growth factor beta-induced gene (TGFBI) were analyzed for associations with type 2 diabetes mellitus (T2DM). Specific TGFBI polymorphisms correlated with insulin and body mass index (BMI) levels in Korean adults.
Area of Science:
- Genetics
- Metabolic Disorders
- Population Studies
Background:
- Type 2 diabetes mellitus (T2DM) is a complex metabolic disorder with a significant genetic component.
- Identifying candidate genes and their polymorphisms is crucial for understanding T2DM pathogenesis.
- The transforming growth factor beta-induced gene (TGFBI) has been investigated for its potential role in metabolic diseases.
Purpose of the Study:
- To identify genetic polymorphisms within the TGFBI gene.
- To examine the association of TGFBI polymorphisms with T2DM risk and diabetic phenotypes in a Korean population.
- To investigate the relationship between TGFBI variations and metabolic parameters like insulin levels and body mass index (BMI).
Main Methods:
- Sequencing of the TGFBI gene to identify polymorphisms.
- Case-control study design involving 775 T2DM patients and 316 healthy Korean controls.
- Statistical analysis to assess the association between identified polymorphisms and T2DM, insulin levels, and BMI.
Main Results:
- Twenty-eight genetic polymorphisms were identified in the TGFBI gene.
- No significant association was found between TGFBI polymorphisms and the risk of developing T2DM.
- Two single nucleotide polymorphisms (SNPs), one in intron 16 (c.2011+137C>T) and one in the 3' untranslated region (UTR) (c.2589T>G), were significantly associated with lower insulin and BMI levels in non-diabetic controls.
- Individuals with minor alleles of the c.2589T>G polymorphism exhibited lower BMI compared to those with major alleles.
Conclusions:
- The study identified novel genetic polymorphisms in the TGFBI gene within the Korean population.
- TGFBI polymorphisms are not significantly associated with T2DM risk.
- Specific TGFBI polymorphisms show a significant association with lower insulin and BMI levels, suggesting a potential role in metabolic regulation independent of T2DM status.