• Biomedical Science Letters
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• v.26 no.1
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• pp.22-27
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• 2020

Tuberculosis is airborne disease caused by Mycobacterium tuberculosis (MTB). Host genetic factors of these tuberculosis play an important role in determining individual difference in susceptibility or resistance to infectious diseases including tuberculosis. CD247 is named CD3zeta chain or CD3ζ. CD247 gene is a protein-coding gene involved in phagocytosis and signal transduction of the T cell receptor (TCR). Also, downregulation of the CD3ζ chain has been associated to chronic inflammation. The aim of this study was to research association of the genetic polymorphisms for CD247 gene and tuberculosis. We analyzed association of CD247 and Mycobacterium tuberculosis using 149 imputed single nucleotide polymorphisms (SNPs) with Korean population. And the results of this study show that seven SNPs of CD247 were identified to associate with tuberculosis. The most significant SNP was rs858545 (OR=1.22, CI: 1.05~1.42, P=0.009481). This study suggests that polymorphisms of CD247 may affect the T cell receptor signaling pathway, which may associate the infection of tuberculosis.

• Proceedings of the Korea Environmental Mutagen Society Conference
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• 2004.05a
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• pp.27-29
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• 2004

Drug transporters play an essential role in the absorption, distribution and elimination of clinical drugs, nutrients and toxicants. The importance of the transporters is exampled by therapeutic failure in cancer chemotherapy that is mainly caused by the overexpression of multidrug resistance (MDR)-related transporters. In addition, the transporters may involve in drug-drug interactions that lead to serious adverse drug responses and some transporters also contribute to inter-individual variation in drug responses. As an effort to understand the mechanism underlying the inter-individual variation of transporters activity, genetic and environmental factors influencing the expression or function of the transporters have extensively explored through last decade. Among them, genetic polymorphism of drug transporter encoding genes has generated much interest since the discovery of functional single nucleotide polymorphisms (SNP) of MDR1 gene. Besides drug transporters, xenobiotic receptors also modulate drug disposition by regulating the transcription of drug metabolizing enzymes and drug transporters. Among many xenobiotic receptors, pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are two most well characterized since these receptors show wide substrate specificities and regulate the expression of various enzymes involved in drug disposition. Recently, several functional genetic polymorphisms were reported in PXR coding gene. In the present study, genetic polymorphisms of two drug transporters, MDR1 and BCRP, and two xenobiotic receptors, PXR and CAR, were investigated in Korean population.

• Journal of Preventive Medicine and Public Health
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• v.42 no.6
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• pp.360-370
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• 2009

Genetic factors clearly play a role in carcinogenesis, but migrant studies provide unequivocal evidence that environmental factors are critical in defining cancer risk. Therefore, one may expect that the lower availability of substrate for biochemical reactions leads to more genetic changes in enzyme function; for example, most studies have indicated the variant MTHFR genotype 677TT is related to biomarkers, such as homocysteine concentrations or global DNA methylation particularly in a low folate diet. The modification of a phenotype related to a genotype, particularly by dietary habits, could support the notion that some of inconsistencies in findings from molecular epidemiologic studies could be due to differences in the populations studied and unaccounted underlying characteristics mediating the relationship between genetic polymorphisms and the actual phenotypes. Given the evidence that diet can modify cancer risk, gene-diet interactions in cancer etiology would be anticipated. However, much of the evidence in this area comes from observational epidemiology, which limits the causal inference. Thus, the investigation of these interactions is essential to gain a full understanding of the impact of genetic variation on health outcomes. This report reviews current approaches to gene-diet interactions in epidemiological studies. Characteristics of gene and dietary factors are divided into four categories: one carbon metabolism-related gene polymorphisms and dietary factors including folate, vitamin B group and methionines; oxidative stress-related gene polymorphisms and antioxidant nutrients including vegetable and fruit intake; carcinogen-metabolizing gene polymorphisms and meat intake including heterocyclic amins and polycyclic aromatic hydrocarbon; and other gene-diet interactive effect on cancer.

• Parasites, Hosts and Diseases
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• v.33 no.4
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• pp.331-340
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• 1995

Interstrain polymorphisms of isoenzyme profiles and mitochondrial (Mt) DNA fingerprints were observed among seven strains of Acnnthnmoeba isolated from different sources and morphologically assigned to A. polvphngn. Mt DNA ringerprints by eight restriction endonucleases (Bgl II, Sca I, Cla I, EcoR I, Xbo I, Kpn I, Sal I, and Sst I) revealed considerable interstrain polymorphisms . Isoenzyme profiles revealed considerable interstrain polymorphisms for acid phosphatase, lactate dehydrogenase, and glucose-6- phosphate dehydrogenase while those for glucose phosphate isomerase , leucine aminopeptidase , and malate dehydrogenase showed similarity Despite of the interstrain polymorphisms, the isoengyme profiles and Mt DNA fingerprints of the strain Ap were found to be identical with those of the strain .tones . Mt DNA fingerprinting was found to be highly applicable for the strain identification, characterization, and differentiation. Key words: Acanthnmoebn polyphcga, interstrain polymorphism, isoenzyme profiles , Mt DNA fingerprints, strain differentiation, strain identification.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.4
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• pp.2337-2342
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• 2013

Meta-analyses have shown that microRNA polymorphisms have variable effects in different population. Yet, no meta-analysis investigated the association of two common polymorphisms of miRNA, mir-499 rs3746444 polymorphism and mir-149 rs2292832 polymorphism, with cancer risk in the Chinese population. We searched the PubMed, Web of Knowledge, MEDLINE, CNKI databases, as well as Cochrane library, updated on December 31, 2012 for assays regarding cancer risk association with these two common polymorphisms in the present meta-analysis. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to explore the strength of associations. The results showed that rs3746444 polymorphism was associated with increased cancer risk (dominant model: GG/AG vs. AA: OR = 1.43, 95% CI: 1.14-1.80; recessive model: GG vs. AG/AA: OR = 1.54, 95% CI: 1.04-2.30; homozygote model: GG vs. AA: OR = 1.69, 95% CI: 1.10-2.60; heterozygote model: AG vs. AA: OR = 1. 35, 95% CI: 1.09-1.67), and rs3746444 was associated with liver cancer in the subgroup of cancer types. For the rs2292832 polymorphism, the results showed no significant risk association in both overall pooled analysis and subgroup of cancer types, smoking status, gender and tea drinking status in the Chinese population. This meta-analysis suggested that the rs3746444 GG genotype is associated with increased cancer risk, especially liver cancer, while the rs2292832 polymorphism showed no association with cancer risk in Chinese.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.12
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• pp.1637-1643
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• 2011

Korean native chickens are a very valuable chicken population in Korea and their prices are higher than that of commercial broilers. In order to discriminate two commercial Korean native chicken populations (CCP1 and CCP2), single nucleotide polymorphisms (SNPs) from mitochondrial (mt) DNA D-loop sequences and LEI0258 marker polymorphisms in the major histocompatibility complex (MHC) region were investigated. A total of 718 birds from nine populations were sampled and 432 mtDNA sequences were obtained. Of these, two commercial Korean native chicken populations (363 birds) were used for investigation of their genetic relationship and breed differentiation. The sequence data classified the chickens into 20 clades, with the largest number of birds represented in clade 1. Analysis of the clade distribution indicated the genetic diversity and relation among the populations. Based on the mtDNA sequence analysis, three selected SNPs from mtDNA polymorphisms were used for the breed identification. The combination of identification probability (Pi) between CCP1 and CCP2 using SNPs from mtDNA and LEI0258 marker polymorphisms was 86.9% and 86.1%, respectively, indicating the utility of these markers for breed identification. The results will be applicable in designing breeding and conservation strategies for the Korean native chicken populations and also used for the development of breed identification markers.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.11
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• pp.5451-5454
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• 2012

Objective: The objective of this study was to evaluate the association of MDR1 gene polymorphisms with susceptibility to hepatocellular carcinoma (HCC). Methods: A total of 689 HCC patients and 680 cancer-free subjects were enrolled. Human MDR1 gene polymorphisms were investigated by created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods. Multiple logistic regression models were applied to estimate the association between MDR1 gene polymorphisms and susceptibility to HCC. Results: We detected a novel c.4125A>C polymorphism and our findings suggested that this variant was significantly associated with susceptibility to HCC. A significantly increased susceptibility to HCC was noted in the homozygote comparison (CC versus AA: OR=1.621, 95% CI 1.143-2.300, ${\chi}^2$=7.4095, P=0.0065), recessive model (CC versus AC+AA: OR=1.625, 95% CI 1.167-2.264, ${\chi}^2$=8.3544, P=0.0039) and allele contrast (C versus A: OR=1.185, 95% CI 1.011-1.389, ${\chi}^2$=4.4046, P=0.0358). However, no significant increase was observed in the heterozygote comparison (AC versus AA: OR=0.995, 95% CI 0.794-1.248, ${\chi}^2$=0.0017, P=0.9672) and dominant model (CC+AC versus AA: OR=1.106, 95% CI 0.894-1.369, ${\chi}^2$=0.8560, P=0.3549). Conclusions: These findings suggest that the c.4125A>C polymorphism of the MDR1 gene might contribute to susceptibility to HCC in the Chinese population. Further work will be necessary to clarify the relationship between the c.4125A>C polymorphism and susceptibility to HCC on larger populations of diverse ethnicity.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.6
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• pp.3955-3961
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• 2013

Background: Defects of manganese superoxide dismutase (MnSOD) have long been implicated in generation of oxidative stress and risk susceptibility to various cancers. Two functional polymorphisms within the MnSOD gene, including the Val-9Ala of the mitochondrial targeting sequence (MTS) and the Ile58Thr of the exon-3, have been proposed to reduce its enzyme activity and antioxidant potential. Materials and Methods: A high-throughput multiplex SNaPshot$^{(R)}$ system was developed herein for simultaneous analyses of Val-9Ala and Ile58Thr in a single reaction. Genomic DNA extracted from each whole blood sample of 248 patients including 107 with cervical cancer and 141 with breast cancer and from 136 healthy women as controls was analyzed by the multiplex SNaPshot$^{(R)}$ system. Results: The Val/Val, Val/Ala genotypes and the Val allele of the MTS were predominant in patients with cervical or breast cancer as well as healthy women in Thailand. The Ile/Ile genotype and the Ile allele of the exon-3 were found in all of them whereas none of the Ile/Thr, the Thr/Thr genotypes and the Thr allele was detected. Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). Conclusions: The Val/Val, Val/Ala genotypes and the Val allele of the MTS were found predominantly but the Ile/Ile genotype and the Ile allele of the exon-3 were detected in patients with cervical cancer, breast cancer and healthy women in Thailand. These two functional polymorphisms (Val-9Ala and Ile58Thr) in MnSOD gene did not associate with susceptibility risk of these cancer patients in Thailand.

• Korean Journal of Biological Psychiatry
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• v.10 no.2
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• pp.177-185
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• 2003

Object:We investigated the relationship between prolactin response to antipsychotics and clinical courses of psychotic symptoms and DAT gene polymorphisms. Method:Twenty-four acute psychotic inpatients completed the 12-week trial of risperidone. Serum prolactin, BPRS, ESRS and hyperprolactinemia-related symptoms were measured at baseline, 2, 4, 8 and 12 weeks after medication. The DAT gene polymorphisms were analyzed. Results:The serum prolactin was significantly increased over time. According to the prolactin level at 2-week, the subjects were divided into the severe group(serum prolactin>60ng/mL, N=15) and the mild group (serum prolactin<60ng/mL, N=9). The prolactin levels of the mild group didn't increase beyond 60ng/mL throughout 12 weeks. Severe group had slower decrement of BPRS scores than those of mild group. Six females in severe group complained of irregular menstruations, but no female in mild group. Most patients had 10 allele of DAT gene. Conclusion:This study suggests that the magnitude of prolactin elevation at the 2-week of risperidone medication is correlated with severity of hyperprolactinemia throughout treatments. Our results did not show the relationship between prolactin responses and DAT gene polymorphisms.

• 대한예방의학회:학술대회논문집
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• 1999.10a
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• pp.1-15
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• 1999

In a case-control study to evaluate the factors involved in the development of hepatocellular carcinoma, polymorphisms of the p53 gene were compared in 68 cases mostly infected with hepatitis C virus (HCV) and 68 controls matched for sex and age: DNA from peripheral blood leukocytes was analyzed by the polymerase chain reaction-single strand conformation polymorphism method and direct sequencing. Polymorphisms analyzed were those in exon 4 (CCC vs. CGC, Pro vs. Arg at codon 72, Al allele vs. A2 allele), intron 2 (C vs. G at nucleotide 38, Al vs. A2), intron 3 (C vs. A at nucleotide 65, Al vs. A2; absence and presence of 16 base pair repeat at nucleotides 24 to 39, Al vs. A2), intron 6 (A vs. G at nucleotide 62, Al vs. A2) and intron 7 (C and T vs. T and G at nucleotides 72 and 92, Al vs. A2). A significantly higher frequency of the allele for CCC (Pro, Al) at codon 72 of exon 4 was found in cases (39%) than in controls (26%) (p<0.05). Highly significant linkage of the polymorphisms in exon 4, intron 2, intron 3 and intron 7, and between the intron 3-16 bp duplication and polymorphism in intron 6 also was found. Matched Fair analysis showed significantly higher frequencies of certain haplotypes (1-1-1-1-2-2 or 1-1-2-1-2-1 for exon 4, intron 2, intron 3, the intron 3-16 bp duplication, intron 6 and intron 7) in cases than in controls (p=0.014, OR=2.27, 95% CI= 1.08-5.12). No preference of specific p53 polymorphisms for specific HCV genotype was detected. These findings suggest that in hepatocarcinogenesis mainly due to HCV infection, genetic factors may be involved and that genetic markers can serve as predictors of a high-risk group for hepatocarcinogenesis.