• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3409-3416
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• 2012

Aim: It is well known that polycyclic aromatic hydrocarbons (PAHs) such as benzo (a) pyrene have carcinogenic properties and may cause many types of cancers in human populations. Genetic susceptibility might be due to variation in genes encoding for carcinogen metabolizing enzymes, such as cytochrome P-450 (CYP450). Our study aimed to investigate the effect of genetic polymorphisms of CYP1A1 (m1 and m2) on genetic damage in 115 coal-tar workers exposed to PAHs at their work place. Methods: Genetic polymorphisms of CYP1A1 were determined by the PCR-RFLP method. Comet and buccal micronucleus assays were used to evaluate genetic damage among 115 coal tar workers and 105 control subjects. Results: Both CYP1A1 m1 and CYP1A1 m2 heterozygous and homozygous (wt/mt+mt/mt) variants individually as well as synergistically showed significant association (P<0.05) with genetic damage as measured by tail moment (TM) and buccal micronuclei (BMN) frequencies in control and exposed subjects. Conclusion: In our study we found significant association of CYP1A1 m1 and m2 heterozygous (wt/mt)+homozygous (mt/mt) variants with genetic damage suggesting that these polymorphisms may modulate the effects of PAH exposure in occupational settings.

• Asian Pacific Journal of Cancer Prevention
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• 제13권2호
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• pp.665-669
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• 2012

Aim: The distribution of DNA repair gene XRCC1 and XRCC3 genotypes was used to assess the potential influence of genetic polymorphisms on risk of colorectal cancer, and interactions with other factors. Methods: a 1:2 matched case-control study was conducted with 485 cases and 970 controls. XRCC1 and XRCC2 genotype polymorphisms were based upon duplex polymerase-chain-reaction with the confronting-two-pairprimer (PCR-CTPP) method. Results:The XRCC1 399Cln allele polymorphism was found to be associated with an increased colorectal cancer risk, while an non-significant inversely association was noted for XRCC3 241Thr/Thr genotype. We also found that individuals with the XRCC1 399 Gln and XRCC3 241Met alleles had an elevated risk, while XRCC3241Thr/Thr was proctective. Conclusion: This study is the first to provide evidence of importance of XRCC1 and XRCC3 gene polymorphisms for risk of colorectal cancer in the Chinese population.

• Asian-Australasian Journal of Animal Sciences
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• 제21권3호
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• pp.309-313
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• 2008

The insulin-like growth factor binding protein 3 (IGFBP3) has been investigated as a candidate gene for growth promoting effects in beef cattle and a modulator of IGF bioactivity. Previously, we have reported twenty two sequence variants discovered in Korean native cattle (Hanwoo). In this study, we examined the association between gene-specific polymorphisms of IGFBP3 and cold carcass weight (CW) and marbling score (MS) among Korean native cattle. Among twenty two polymorphisms, four common polymorphic sites (-854G>C, -100G>A, +421G>T and +3863C>A) were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one common polymorphism in the promoter region (-854G>C) showed putative associations with MS (p = 0.03). IGFBP3 variation/haplotype information analyzed in this study will provide valuable information into strategies for the production of a commercial line of beef cattle.

• Journal of Genetic Medicine
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• 제6권2호
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• pp.121-130
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• 2009

자궁내막증의 유전 소인을 감안하였을 때 관련 유전자 다형성 조사는 매우 중요한 의미를 갖는다. 현재까지 약 30여개의 한국인을 대상으로 한 결과를 조사하여 자궁내막증과 특정 유전자내 다형성과의 연관성을 파악하고자 하였다. 가장 의미있는 유전자 다형성은 한국인 자궁내막증 환자에서의 GSTT1, AhRR, ER-alpha, VEGF, AHSG, 그리고TNF-alpha 유전자 다형성이다. 다만 결과가 부분적으로 상충되기도 하여 추가 연구을 통해 결과 재현성을 증명해야 할 것으로 사료된다. 마지막으로 자궁내막증을 대상으로 유전자 연구에서의 추후 연구 방향을 제시하고자 한다.

• 대한의생명과학회지
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• 제26권1호
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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.

• Journal of Preventive Medicine and Public Health
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• 제42권6호
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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.

• 한국수정란이식학회지
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• 제22권4호
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• pp.257-263
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• 2007

This study was performed to investigate the relationship between PSS-HSP70 gene polymorphism and artificial insemination (AI) reproductivity in the pigs. The RFLP polymorphism of PSS and the SSCP polymorphisms of HSP70 K1, K3 and K4 PCR product were detected different patterns. In the experiment for AI of fresh semen, spring and fall season showed higher litter size born of 10.89 head than 10.47 head of summer season. Landrace was showed higher litter size of 9.96 head than that of Duroc and Yorkshire (p<0.05). Stress relating PSS and HSP70 polymorphism of PSS-Normal, HSP70 K1-BB, K3-AB, K4-AA showd a highest litter size born of 10.97 head and litter size born alive of 10.69 head than that of the other polymorphisms(p<0.05). In the experiment for AI of frozen semen, effects of season and pig breeds were not showed for litter size born. The stress relating polymorphism of PSS-Carrier, HSP70 K1-BB, K3-BB, K4-AB showed highest litter size born of 11.29 head and litter size born alive of 10.82 head and PSS-Normal, HSP70 K1-BB, K3-AB, K4-AA showed the lowest litter size born of 8.48 head and litter size born alive of 7.33 head than that of the other polymorphisms(p<0.05). These results suggest that AI litter size born for the stress of forzen thawed semen may be affected by PSS and HSP70 polymorphism in pigs.

• Asian-Australasian Journal of Animal Sciences
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• 제28권6호
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• pp.763-770
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• 2015

Improved meat quality and greater muscle yield are highly sought after in high-quality chicken breeding programs. Past studies indicated that polymorphisms of the Perilipin gene (PLIN1) are highly associated with adiposity in mammals and are potential molecular markers for improving meat quality and carcass traits in chickens. In the present study, we screened single nucleotide polymorphisms (SNPs) in all exons of the PLIN1 gene with a direct sequencing method in six populations with different genetic backgrounds (total 240 individuals). We evaluated the association between the polymorphisms and carcass and meat quality traits. We identified three SNPs, located on the 5' flanking region and exon 1 of PLIN1 on chromosome 10 (rs315831750, rs313726543, and rs80724063, respectively). Eight main haplotypes were constructed based on these SNPs. We calculated the allelic and genotypic frequencies, and genetic diversity parameters of the three SNPs. The polymorphism information content (PIC) ranged from 0.2768 to 0.3750, which reflected an intermediate genetic diversity for all chickens. The CC, CT, and TT genotypes influenced the percentage of breast muscle (PBM), percentage of leg muscle (PLM) and percentage of abdominal fat at rs315831750 (p<0.05). Diplotypes (haplotype pairs) affected the percentage of eviscerated weight (PEW) and PBM (p<0.05). Compared with chickens carrying other diplotypes, H3H7 had the greatest PEW and H2H2 had the greatest PBM, and those with diplotype H7H7 had the smallest PEW and PBM. We conclude that PLIN1 gene polymorphisms may affect broiler carcass and breast muscle yields, and diplotypes H3H7 and H2H2 could be positive molecular markers to enhance PEW and PBM in chickens.

• 대한의생명과학회지
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• 제23권2호
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• pp.89-95
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• 2017

Tuberculosis (TB), mainly disseminated by infection of the respiratory tract, remains an unsolved community health problem by Mycobacterium tuberculosis (MTB). However, because of the different susceptibility to MTB, people infected with MTB do not all develop TB. These differences of disease arise from individual genetic susceptibility as well as the property of the microorganisms itself. CD226, one of the genetic factors that influences TB, interact with its ligand PVR and ITGB2. It is induced various cellular responses that contribute multiple innate and adaptive responses. In a previous study, CD226 enhanced immune efficacy induced by Ag85A DNA vaccination that is secreted protein by MTB. The aim of this study was to investigate the association between six genetic polymorphisms of CD226 gene and TB status with Korean population. Our results show that two SNPs of CD226 were identified to associate with tuberculosis. The highest significant SNP was rs17081766 (OR=0.70, CI: 0.54~0.90, $P=5.4{\times}10^{-3}$). According to this study, polymorphisms of CD226 gene affect the outbreak of TB in MTB-infected patients. It is suggested that polymorphism of other genes also associated with immune responses results in susceptibility to TB. The results from this study suggest that not only the characteristics of the microorganism itself but also the genetic background of the individual may affect progression of TB in MTB-infected patients.

• BMB Reports
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• 제37권1호
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• pp.11-27
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• 2004

The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics and population-based studies. Among variations being analyzed, single nucleotide polymorphisms seem to be most useful in large-scale genetic analysis. This review discusses approaches for genetic analysis, use of different markers, and emerging technologies for large-scale genetic analysis where millions of genotyping need to be performed.