• Journal of Gastric Cancer
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• v.7 no.1
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• pp.9-15
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• 2007

Purpose: DNA methylation is an important epigenetic factor in tumorigenesis. We hypothesized that polymorphism of the promoter of the DNA methyltransferase 3b (DNMT3b) genes, which are responsible for regulating the methylation status of tumor suppressor genes, are associated with increased risk of gastric cancer. Materials and Methods: In this hospital-based case-control study, to determine the role of this polymorphism of the promoter of DNA methyltransferase 3b (DNMT3b) genes in gastric cancer, we genotyped 176 cases and 70 control subjects. To determine the genotype, we used a polymerase chain reaction restriction fragment length polymorphism assay. We compared alleles and genotypes between the two groups and revealed an association of DNMT3b promoter polymorphism with increased risk of gastric cancer in the Korean population. Results: Genotype frequencies were 14.8% (Cytosine-Cytosine), 71.6% (Cytosine-Thymine), and 13.6% (Thymine- Thymine) in the case patients and 40.0% (Cytosine-Cytosine), 42.9% (Cytosine-Thymine), and 17.1% (Thymine-Thymine) in the control subjects, respectively. Compared with CC homozygotes, CT heterozygotes had a 4.523-fold increased risk (OR, 2.13; 95% CI, 2.324~8.803), and the TT homozygotes had a 2.154-fold elevated risk (OR, 1.42; 95% CI, 0.899~85.165). For the T variant genotype (CT+TT), there was a 3.846-fold increased risk (OR, 1.88; 95% CI, 2.040~7.251). However, no significance was observed in the genotype distributions of both polymorphisms according to histopathology, stage of stomach cancer. The Ssame results were observed with Helicobacter infection. Conclusion: DNMT3b promoter polymorphism, especially the T variant genotype, is associated significantly with thean increased risk of gastric cancer.

• Journal of Life Science
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• v.16 no.4
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• pp.626-631
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• 2006

This study was carried out to investigate the physical characteristics (height, body lenght, chest depth, head type, ear type, body color, eye type and tail type) and genetic diversity using 15 microsatellite DNA markers (PEZ 1, 5, 8, 10, 11, 12, 13, 15, 16, 17, 20, 21, FHC 2010, FHC 2054 and FHC 2079) in 44 random Miryang native dogs(6 months${\sim}$12 years old). The height, body lenght, and chest depth of Miryang native dogs were 43-55 cm(mean 49.5 cm), 45-60 cm(mean 54.3 cm), and 50-64 cm(mean 57.9 cm), respectively. Miryang native dog was medium sized. The head and eye type were reverse-triangle(100%), triangle (90.9%) and newborn moon(9.1%), respectively. Most of body color had white coat color(93.2%), light pink tongue color(100%), light black anal color(90,9%) and pink claw color(100%). The ear type showed erect ear(100%), and half-curled(56.8%), upward(34.1%), curled(9.1%) in tail type, respectively. Number of alleles observed at a single locus ranged from 2 (PEZ 21 and FHC 2010) to 14 (PEZ 13), with average number of alleles per locus of 6.13. The expected heterozygosities of 15 microsatellite loci were estimated based on gene frequencies. The highest expected heterozygosity, 0.863 was estimated in PEZ 13 locus and the lowest, 0.455 in PEZ 21 and FHC 2010 locus. And the mean expected heterozygosity of 15 microsatellite markers was calculated as 0.635. Polymorphic information content (PIC) values were ranged from 0.348 (PEZ 21 and FHC 2010) to 0.837 (PEZ 13), and the mean PIC value was calculated as 0.570. Of the 15 markers, PEZ 10, PEZ 13, PEZ 17 and FHC 2054 loci have relatively high PIC value (> 0.7) in Miryang native dog. In order to determine the efficieney of parentage control, exclusion probabilities (PE) were calculated for each allele. The highest PE 1 and PE 2 in PEZ 13 locus was caculated to 0.548 and 0.710, respectively. And the total exclusion power in PE 1 and PE 2 was calculated to 0.9895 and 0.9996, respectively. These results can give basic information for perservation and research in Miryang native dog, and phylogenetic relationships of the Korean native dog and Asian dog breeds.

• Journal of Preventive Medicine and Public Health
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• v.39 no.2
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• pp.130-134
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• 2006

Objectives : Oxidative DNA damage is a known risk factor of lung cancer. The glutathione peroxidase (GPX) antioxidant enzyme that reduces hydrogen peroxide and lipid peroxides plays a significant role in protecting cells from the oxidative stress induced by reactive oxygen species. The aim of this case-control study was to investigate effects of oxidative stress and genetic polymorphisms of the GPX1 genes and the interaction between them in the carcinogenesis of lung cancer. Methods : Two hundreds patients with lung cancer and 200 age- and sex-matched controls were enrolled in this study. Every subject was asked to complete a questionnaire concerning their smoking habits and their environmental exposure to PAHs. The genotypes of the GPX1 and 8-oxoguanine glycosylase 1 (hOGG1) genes were examined and the concentrations of urinary hydroxypyrene (1-OHP), 2-naphthol and 8-hydroxydeoxyguanosine (8-OH-dG) were measured. Results : Cigarette smoking was a significant risk factor for lung cancer. The levels of urinary 8-OH-dG were higher in the patients (p<0.001), whereas the urinary 1-OHP and 2-naphthol levels were higher in the controls. The GPX1 codon 198 polymorphism was associated with an increased risk of lung cancer. Individuals carrying the Pro/Leu or Leu/Leu genotype of GPX1 were at a higher risk for lung cancer (adjusted OR=2.29). In addition, these individuals were shown to have high urinary 8-OH-dG concentrations compared to the individuals with the GPX1 Pro/Pro genotype. On the other hand, the polymorphism of the hOGG1 gene did not affect the lung cancer risk and the oxidative DNA damage. Conclusions : These results lead to a conclusion that individuals with the GPX1 Pro/Leu or Leu/Leu genotype would be more susceptible to the lung cancer induced by oxidative stress than those individuals with the Pro/Pro genotype.

• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.