• 한국환경보건학회지
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• 제36권1호
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• pp.1-13
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• 2010

Evidences supporting gene-environment interaction are accumulating in terms of environmental exposure including lifestyle factors and related genetic variants. One form of defense mechanism against cancer development involves a series of genes whose role is to metabolize (activation/detoxification) and excrete potentially toxic compounds and to repair subtle mistakes in DNA. The purpose of this article is to provide a brief review of the notion of gene-environment interaction, environmental/occupational carcinogens and related cancers, and previous studies of gene-environment interaction on cancers caused by exposure to carcinogenesis. With a number of studies on the interaction between lifestyle factors (e.g., smoking and diet) and genetic polymorphisms in genes involved in xenobiotic metabolism and DNA repair excluded, only several studies have been conducted on the interactive effects between polymorphisms of CYPs, GSTs, ERCCs, XRCCs and environmental/occupational carcinogens such as vinyl chloride, benzo[a]pyrene, and chloroform on carcinogenesis or genotoxicity. Future studies may need to be conducted with sufficient number of subjects and based on occupational cohorts to provide useful information in terms of advanced risk assessment and regulation of exposure level.

• Asian Pacific Journal of Cancer Prevention
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• 제14권12호
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• pp.7091-7094
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• 2013

DNA repair capacity is crucial in maintaining cellular functions and homeostasis. However, it can be altered based on DNA sequence variations in DNA repair genes and this may lead to the development of many diseases including malignancies. Identification of genetic polymorphisms responsible for reduced DNA repair capacity is necessary for better prevention. Homologous recombination (HR), a major double strand break repair pathway, plays a critical role in maintaining the genome stability. The present study was performed to determine the frequency of the HR gene XRCC3 Exon 7 (C18067T, rs861539) polymorphisms in Saudi Arabian population in comparison with epidemiological studies by "MEDLINE" search to equate with global populations. The variant allelic (T) frequency of XRCC3 (C>T) was found to be 39%. Our results suggest that frequency of XRCC3 (C>T) DNA repair gene exhibits distinctive patterns compared with the Saudi Arabian population and this might be attributed to ethnic variation. The present findings may help in high-risk screening of humans exposed to environmental carcinogens and cancer predisposition in different ethnic groups.

• Asian-Australasian Journal of Animal Sciences
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• 제17권11호
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• pp.1479-1483
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• 2004

Milk protein polymorphisms were genotyped by polyacrylamide gel electrophoresis (PAGE) from 109 Maiwa and 100 Jiulong yaks. The relationships between milk protein polymorphisms and 3 milking traits were studied. The results showed that $\beta$-CN, $\kappa$-CN and $\alpha$-La were monomorphic, and ${\alpha}_{s1}$-CN and $\beta$-Lg were polymorphic, with ${\alpha}_{s1}$-CN D and $\beta$-Lg E as dominant genes, respectively. The frequencies of ${\alpha}_{s1}$-CN D were 0.8073 and 0.6000 in two populations and $\beta$-Lg E were 0.9770 and 0.9700. The mean heterozygosities were 0.1021 and 0.1867 in the two populations. No significant effects on milking traits and milk protein compositions were observed except for ${\alpha}_{s1}$-CN locus on fat percentage in Jiulong yak.

• Asian Pacific Journal of Cancer Prevention
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• 제15권15호
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• pp.6211-6217
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• 2014

Previous genome-wide association studies (GWAS) have implicated several single nucleotide polymorphisms (SNPs) in the AT-rich interactive domain 5B (ARID5B) gene with childhood acute lymphoblastic leukemia (ALL). However, replicated studies reported some inconsistent results in different populations. Using meta-analysis, we here aimed to clarify the nature of the genetic risks contributed by the two polymorphisms (rs10994982, rs7089424) for developing childhood ALL. Through searches of PubMed, EMBASE, and manually searching relevant references, a total of 14 articles with 16 independent studies were included. Odds ratios (ORs) with 95% confidence intervals (95%CI) were calculated to assess the associations. Both SNPs rs10994982 and rs7089424 showed significant associations with childhood ALL risk in all genetic models after Bonferroni correction. Furthermore, subtype analyses of B-lineage ALL provided strong evidence that SNP rs10994982 is highly associated with the risk of developing B-hyperdiploid ALL. These results indicate that SNPs rs10994982 and rs7089424 are indeed significantly associated with increased risk of childhood ALL.

• Asian Pacific Journal of Cancer Prevention
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• 제15권2호
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• pp.763-767
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• 2014

Aim: To study the contribution of genetic variation in RAD51 to risk of esophageal squamous cell carcinoma (ESCC). Methods: Three single nucleotide polymorphisms (SNPs) in RAD51 (rs1801320, rs4144242 and rs4417527) were genotyped in 316 ESCC patients and 316 healthy controls in Anyang area of China using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism). Demographic variables between cases and controls were statistically compared by T test and Chi-square test. Hardy-Weinberg equilibrium was evaluated by the Chi-square test. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure any association with ESCC. Haplotype frequencies were estimated by Phase 2.1. Result: The genotype frequencies of rs1801320, rs4144242 and rs4417527 in patients with ESCC demonstrated no significant differences from those in control group (P>0.05). When the haplotypes of these three SNPs were constructed and their relationships with ESCC risk investigated, however, CGG was observed to increase the risk (P=0.020, OR=2.289). Conclusions: There was no association between the three SNPs of RAD51 and ESCC susceptibility in our Chinese population. However, the CGG haplotype might be a risk factor.

• 대한의생명과학회지
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• 제11권2호
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• pp.227-235
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• 2005

It has been reported that endurance performance is influenced by various environmental and genetic factors. In view of an important role of human mitochondrial DNA (mtDNA) as a candidate for endurance performance, this study focused on the relationships between $VO_{2max}$ value as a measure of endurance performance or other associated phenotypes and four mtDNA restriction fragment length polymorphisms (RFLPs) (Bam HI, Hinc II1, Hinc II2 and Nci I) in the NADH dehydrogenase subunit 5 and one (Kpn I) in the D-loop region of mtDNA. MtDNA was purified from buffy coat in human peripheral blood, and PCR-RFLP analysis was performed to estimate the allele frequencies of each polymorphism in the mtDNA. There were no significant differences in allele distributions of all polymorphisms studied between male athletes and controls, respectively (P>0.05). However, the Kpn I polymorphism was significantly associated with diastolic blood pressure level in male athletes, respectively (P<0.05). Therefore, our results suggest that this polymorphism might be one of the factors modifying inter-individual difference in cardiovascular risk. Further studies using larger sample size will be required to generalize these results from the study described herein.

• Clinical and Experimental Pediatrics
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• 제54권8호
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• pp.335-339
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• 2011

Purpose: Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene result in elevated plasma homocysteine concentrations and are known to be associated with the development of coronary artery disease. Our hypothesis is that single nucleotide polymorphisms (SNPs) of the MTHFR gene are related to the development of KD and coronary artery lesions (CALs). Methods: For this study, we selected 3 candidate single nucleotide polymorphisms (SNPs) (rs2274976, rs1801131, and rs1801133) of MTHFR. These SNPs are located on chromosome 1p36.3. We included 101 KD patients and 306 healthy adults as controls in this study. CALs were seen in 38 patients. Genotypes of the selected SNPs were determined by direct sequencing and analyzed with SNPAlyze. Results: The genetic distribution and allelic frequency of the 3 MTHFR SNPs (rs2274976, rs1801131, and rs1801133) were not significantly different in patients with KD compared to the control group (P=0.71, 0.17, and 0.96, respectively). There was no difference in the genetic distribution of the MTHFR SNPs between the normal control group and the CAL group (P=0.43, 0.39, 0.52 respectively). Conclusion: The genetic distribution of the MTHFR SNPs (rs2274976, rs1801131, and rs1801133) was not different in the KD group compared to the control group. In addition, the genetic distribution of these SNPs was not different in the CAL group compared to the control group in the Korean population.

• 대한임상검사과학회지
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• 제53권1호
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• pp.81-87
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• 2021

제2형 당뇨병(T2DM)과 그 유병률은 전세계적으로 증가하고 있다. T2DM은 인슐린 저항성이 높아지고 인슐린 분비가 감소해 발생하는 당뇨병의 가장 흔한 유형 중 하나다. 과산화물 증식활성수용체 감마 공활성제 1 알파(PPARGC1A)는 미토콘드리아 생물 발생의 마스터 조절기와 간에서 포도당신합성에 관여한다. 본 연구에서는 T2DM이 있는 한국인 중년층의 PPARGC1A 유전자의 유전적 다형성을 분석하였다. 그 결과, PPARGC1A 유전자 중 15개의 SNP가 T2DM과 통계적으로 유의한 연관성을 보였으며, 그 중 PPARGC1A 유전자의 rs10212638은 T2DM (P=0.015, OR=1.29, CI=1.05~1.59)과 통계적으로 가장 큰 유의한 상관관계를 보였다. PPARGC1A의 마이너 유전자형(minor allele) G는 T2DM의 위험을 증가시켰다. 본 연구는 T2DM와 PPARGC1A의 유전적 다형성 사이에 유의한 연관성을 보여주고 있다. 이러한 결과는PPARGC1A의 SNP가 T2DM의 병의 원인이 되는 유전적 연관성이 있음을 시사한다.

• Genomics & Informatics
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• 제12권4호
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• pp.203-207
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• 2014

Hepatitis is a common and serious disease for the Korean population. It is caused by a virus, the A and B types of which are plentiful in Koreans. In this study, we tried to find genetic factors for hepatitis through genome-wide association studies. We took 368 cases and 1,500 controls from Anseong and Ansan cohort data. About 300,000 single-nucleotide polymorphisms and 20 epidemiological variables were analyzed. We did not find any meaningful significant single nucleotide polymorphisms, but we confirmed the influence of major epidemiological variables on hepatitis.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1369-1372
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• 2016

Background: Platinum compounds are the main drugs for treatment of advanced gastric cancer. Previous studies have shown that clinical outcome with platinum-based compounds depends on ERCC1 polymorphisms. The aim of this study was to investigate the frequency of a common polymorphism of ERCC1 gene (C8092A) in Iranian patients with advanced gastric cancer receiving platinum chemotherapy. Materials and Methods: Genetic analysis of the ERCC1 C8092A polymorphism was performed by the PCR - RFLP method using 50 paraffin-embedded tissue specimens. Results: Of the 50 cases, 32% of individuals showed CC genotype, 24% of them had CA genotype and 44% of patients had AA genotype. Conclusions: Based on the results, using of platinum-based chemotherapy would be expected to be specifically beneficial in only 32% of patients.