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Published on: April 19, 2013
Associations between polymorphisms in the mitochondrial uncoupling proteins (UCPs) with T2DM.
Hye-Ja Lee1, Ha-Jung Ryu, Hyoung-Doo Shin
1Division of Metabolic Disease, Center for Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul, 122-701, Republic of Korea.
Genetic variations in UCP2 and UCP3 genes are linked to type 2 diabetes mellitus (T2DM) susceptibility in Koreans. Specifically, UCP2 -5331G>A and UCP3 -2078C>T polymorphisms may indicate increased T2DM risk, particularly in women.
Area of Science:
- Genetics
- Metabolic Diseases
Background:
- Mitochondrial uncoupling proteins (UCPs) regulate energy and glucose homeostasis.
- Investigating single nucleotide polymorphisms (SNPs) in UCP genes can reveal factors in type 2 diabetes mellitus (T2DM) susceptibility.
Purpose of the Study:
- To examine the association between 23 SNPs in UCP genes and T2DM.
- To identify genetic markers for T2DM susceptibility.
Main Methods:
- Direct sequencing of UCP genes in 24 individuals.
- Genotyping of 23 SNPs in 761 T2DM patients and 632 controls.
- Investigating SNP involvement in T2DM.
Main Results:
- Three UCP2 SNPs (UCP2 -5331G>A, UCP2 -3998C>G, UCP2 +320C>T) showed association with T2DM.
- UCP2 -5331G>A was significantly associated with T2DM in obese individuals.
- UCP3 -2078C>T was associated with T2DM in women.
- Combined UCP2 -5331G>A and UCP3 -2078C>T polymorphisms increased T2DM risk, especially in women.
Conclusions:
- UCP2 -5331G>A and UCP3 -2078C>T polymorphisms are potential susceptibility markers for T2DM in the Korean population.
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