- Genetic Association of Mitochondrial DNA Polymorphisms with Type 2 Diabetes Mellitus.
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Tae Su Han, Jee Hye Choi, Jina Park, Kwang Ho Lee, Ae Ja Park
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Korean Diabetes J. 2009;33(5):382-391. Published online October 1, 2009
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DOI: https://doi.org/10.4093/kdj.2009.33.5.382
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Abstract
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- 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.
- Interleukin-6 polymorphism in Korean Obese and Type 2 Diabetic Subjects.
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Jae Taek Kim, Seung Jin Choi, Mi Kyung Lee, Ae Ja Park, Yeon Sahng Oh, Soon Hyun Shin
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Korean Diabetes J. 2001;25(5):337-342. Published online October 1, 2001
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Abstract
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- BACKGROUND
Interleukin (IL)-6 is produced by many different cell types, including adipose tissue, and the release is greater in obese subjects. Recently, it has been reported that polymorphism in the 5' flanking region of the IL-6 gene may contribute to the insulin resistance and lipid abnormality. However, there are limited number of studies reported on the relationship between IL-6 polymorphism and insulin resistance syndrome. Therefore, the aim of this study was to examine the relationships among this polymorphism, obesity and diabetes in Korean subjects. METHODS: We examined a total of 177 Korean individuals, including 113 type 2 diabetic subjects. Sixty-three subjects were non-obese diabetics (age; 56.4+/-9.8 yr, body mass index (BMI); 22.5+/-1.7 kg/m2), 50 of them were obese diabetic subjects (age; 54.8+/-10.7 yr, BMI; 27.6+/-2.2 kg/m2), and 64 were overweight or obese subjects (age; 49.1+/-11.4 yr, BMI; 25.4 1.5 kg/m2). We evaluated IL-6 gene polymorphism using PCR-restriction fragment length polymorphism. RESULTS: There were 176 GG (99.4%), 1 GC (0.56%) and 0 CC (0%) individuals, and the allele frequencies were 99.7% for G and 0.28% for C. Allele frequencies of C in obese diabetic subjects were 1.02%. The frequency of C allele was substantially lower than that reported in Caucasian. CONCLUSION: This results suggest that the IL-6 polymorphism is not associated with obesity nor diabetes in Korean subjects.
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