Korean Diabetes J.  2009 Oct;33(5):382-391. 10.4093/kdj.2009.33.5.382.

Genetic Association of Mitochondrial DNA Polymorphisms with Type 2 Diabetes Mellitus

• Han TS
• Choi JH
• Park J
• Lee KH
• Park AJ

• KMID: 2231145
• DOI: http://doi.org/10.4093/kdj.2009.33.5.382

Abstract

BACKGROUND
Although many single nucleotide polymorphisms (SNPs) of mtDNA have been found to be associated with type 2 diabetes mellitus, the results of studies using different population samples and different methods are mixed. Therefore, we conducted a genetic association study of mtDNA SNPs and type 2 diabetes mellitus in a Korean sample and compared our results with those of studies conducted in other human populations.
METHODS
A total of 298 blood samples from 147 type 2 diabetic patients and 151 normal controls were surveyed for SNPs via PCR directed sequencing. Sequencing analyses were performed using the SeqMan module of the DNASTAR program. The identified SNPs were compared to previously reported SNP lists on NCBI and V-mitoSNP.
RESULTS
A total of 24 SNPs were identified in the MT-RNR2, MR-TL1 and MT-ND1 mtDNA genes in Korean type 2 diabetes mellitus patients and normal controls. The SNPs identified in the Korean sample were not closely associated with the type 2 diabetes mellitus phenotype, a significantly different result from those previously observed in European, Chinese and Japanese samples. Additionally, a haplotype and prevalence analysis could not detect any differences between the type 2 diabetes mellitus patients and normal controls.
CONCLUSION
The 24 mtDNA SNPs were not associated with type 2 diabetes mellitus risk in our Korean sample. The results of the present study support the possibility that mtDNA SNPs have a differential effect on the risk of type 2 diabetes mellitus according to geographical origin.

Keyword

Mitochondrial DNA; Single nucleotide polymorphism; Type 2 diabetes mellitus

MeSH Terms

Asian Continental Ancestry Group
Diabetes Mellitus, Type 2
DNA, Mitochondrial
Genetic Association Studies
Haplotypes
Humans
Phenotype
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Prevalence
DNA, Mitochondrial

Figure

• 

  Fig. 1 Sequence results of PCR product amplified from target sequences contain SNPs on MT-RNR2 gene. The arrows indicate the variant bases. A. SNPs were observed from both T2DM and normal subjects. B. SNPs were observed from only normal subjects. SNP, single nucleotide polymorphism; T2DM, type 2 diabetes mellitus.

• 

  Fig. 2 Sequence results of PCR product amplified from target sequences contain SNPs on MT-ND1 gene. The arrows indicate the variant bases. A. SNPs were observed from both T2DM and normal subjects. B. SNPs were observed from only T2DM subjects. C. SNPs were observed from only normal subjects. SNP, single nucleotide polymorphism; T2DM, type 2 diabetes mellitus.

• 

  Fig. 3 Heteroplasmy observed from 3 individuals. The arrows indicate the variant bases, shown heteroplasmy. A. Heteroplasmy on MT-ND1 gene was observed from one T2DM patient. B. Heteroplasmy on MT-RNR2 gene was observed from two normal individuals. T2DM, type 2 diabetes mellitus.

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