• 생물정신의학
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• 제12권1호
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• pp.62-67
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• 2005

Objective:There has been increasing evidence that neurodevelopmental dysfunction is involved in the pathophysiology of schizophrenia. Cadherin is known to be one of the important molecules in neurodevelopment. This study was performed to examine the relationship between T816C polymorphism of CDH2 gene and schizophrenia. Methods:Genoytypes of T816C polymorphism of CDH2 gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 156 Korea patents with schizophrenia and 170 controls. Results:No difference was found between the patients with schizophrenia and the controls in genotype and allele frequencies of T816C polymorphism of CDH2 gene. Conclusion:The results of this study do not support an association between T816C polymorphism of CDH2 gene and schizophrenia. However, it is necessary to investigate other polymorphic regions of CDH2 in schizophrenia.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5633-5636
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• 2012

Purpose: Breast cancer is an important cause of cancer-related death in women. Numerous studies have evaluated the association between the insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene and breast cancer risk. However, the specific association is still controversial rather than conclusive. Therefore, we performed a meta-analysis of related studies to address this controversy. Methods: PubMed, EMBASE, Google Scholar and the Chinese National Knowledge Infrastructure databases were systematically searched to identify relevant studies. A meta-analysis was performed to examine the association between the I/D polymorphism in the ACE gene and susceptibility to breast cancer. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. Results: 10 separate studies of 7 included articles with 10,888 subjects on the relation between the I/D polymorphism in the ACE gene and breast cancer were analyzed by meta-analysis, and our results showed no association between the I/D polymorphism in the ACE gene and breast cancer in total population and different populations. No publication bias was found in the present study. Conclusions: The ACE I/D polymorphism may not be associated with breast cancer risk. Further large and well-designed studies are needed to confirm this conclusion.

• 약학회지
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• 제48권1호
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• pp.75-81
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• 2004

Bone mineral density (BMD) is influenced by genetic and environmental factors. Among genetic study; calcitonin receptor (CTR) gene is a good candidate influencing the inter-individual difference in BMD because CTR is involved in calcium and bone metabolism. Thus, we investigated the distribution of C1377T polymorphism in the CTR gene among male Korean elite athletic and control groups, respectively and also an association with BMD in lumbar spine and femoral neck. Our results suggested that this polymorphism of CTR gene was not significantly associated with lumbar spine or femoral neck BMDs in the both groups, respectively. However, we found that there was the racial difference in genotype distribution of this polymorphism between Caucasian and Asian populations. Though we could not detect the significant association between C1377T polymorphism of CTR gene and lumbar spine or femoral neck BMDs, further studies using other ethnic groups are necessary to clarify the precise role in BMD of CTR gene.

• BMB Reports
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• 제38권4호
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• pp.486-490
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• 2005

Genetic factors are important in the pathogenesis of coronary artery disease (CAD). Angiotensin converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism is one of the genetic factor found to be related with CAD. We investigated the association between I/D polymorphism of the ACE gene and the presence of CAD. Threehundred and seven patients (187 males and 120 females, aged between 35-80, mean $54.3{\pm}9.8$ years) who underwent diagnostic coronary angiography were included in the study. ACE I/D polymorphism was detected by polymerase chain reaction. Of the 307, 176 had CAD. The most frequently observed genotype in all subjects was ID (47.9 %). However, in patients with CAD the frequency of II genotype was lower whereas DD genotype was higher compared to the controls (p < 0.05). The number of D allele carrying subjects were also higher (p < 0.05) in CAD patients. The logistic regression analysis indicated that the ACE D allele is an independent risk factor (odds ratio = 1.48, 95% CI = 1.01-2.18, p < 0.05). In conclusion, the I/D polymorphism of ACE gene (carrying D allele) is an independent risk factor for CAD in the studied Turkish population.

• Asian Pacific Journal of Cancer Prevention
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• 제15권17호
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• pp.7163-7167
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• 2014

Background: Associations between the rs6010620 polymorphism in the regulator of telomere elongation helicase1 (RTEL1) gene and glioma have been widely reported but the results were not inconclusive. The aim of the current study was to investigate the association between the rs6010620 polymorphism in RTEL1 gene and risk of glioma by meta-analysis. Materials and Methods: We searched PubMed, Embase, Wanfang Weipu and CNKI (China National Knowledge Infrastructure) databases, which included all research published 05 May 2014. A total of 8,292 cases and 12,419 controls from 14 case-control studies involving the rs6010620 polymorphism in the RTEL1 gene were included. Statistical analysis was performed using STATA 12.0 software. Results: The results indicated that the rs6010620 polymorphism in RTEL1 gene was indeed associated with risk of glioma (OR=1.474, 95%CI=1.282-1.694, p<0.001). On subgroup analysis by ethnicity, we found associations between the rs6010620 polymorphism in the RTEL1 gene and risk of glioma in both Caucasians and Asians. Conclusions: The current meta-analysis suggested that the rs6010620 polymorphism in the RTEL1 gene might increase risk of glioma. In future, larger case-control studies are needed to confirm our results.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4465-4468
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• 2012

Objective: The conclusions of published reports on the relationship between the glutathione S-transferase M3 (GSTM3) A/B gene polymorphism and the risk of lung cancer are still debated. This meta-analysis was performed to evaluate the association between GSTM3 and the risk of lung cancer. Methods: Association investigations were identified from PubMed, Embase, and Cochrane Library, and eligible studies were included and synthesized using a meta-analysis method. Results: Eight reports were included into this meta-analysis for the association of GSTM3 A/B gene polymorphism and lung cancer susceptibility, covering 1,854 patients with lung cancer and 1,926 controls. No association between the GSTM3 A/B gene polymorphism and lung cancer was found in this meta-analysis (B allele: OR = 1.25, 95% CI: 0.89-1.76, P = 0.20; BB genotype: OR = 1.53, 95% CI: 0.71-3.32, P = 0.28; AA genotype: OR = 0.85, 95% CI: 0.59-1.23, P = 0.39). Conclusions: The GSTM3 A/B gene polymorphism is not associated with lung cancer susceptibility. However, more studies on the relationship between GSTM3 A/B gene polymorphism and the risk of lung cancer should be performed in the future.

• 생명과학회지
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• 제19권9호
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• pp.1277-1283
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• 2009

본 연구는 대한민국 공군사관생도들을 대상으로 12주간 복합 트레이닝(유/무산소성 트레이닝, 공간지각 트레이닝)이 Angiotensin Converting Enzyme (ACE) gene polymorphism에 따른 신체조성과 심폐지구력 변화에 미치는 영향을 규명하는데 목적이 있었다. 연구결과, 12주간 복합 트레이닝 후 신체조성은 ACE gene polymorphism에 따라 변화의 차이가 나타나지 않았으며, 심폐지구력은 I allele 집단(II/ID genotype group)이 D allele 집단(DD genotype group)보다 트레이닝의 효과가 높게 나타났다. 본 연구 결과로 볼 때, 복합 트레이닝은 ACE gene polymorphism에 따라 심폐지구력 변화에 다르게 반응하고 있으며, I allele (II/ID genotype group)를 가지고 있는 개체가 더 높은 트레이닝의 효과를 얻을 수 있음을 제시해 주고 있다.

• 약학회지
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• 제50권1호
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• pp.26-32
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• 2006

Osteocalcin is a vitamin K dependent and bone specific protein which plays an important role in the regulation of bone and calcium metabolism. In this study, we evaluated the relationship between the C298T polymorphism in the osteocalcin gene and bone mineral density (BMD) in Korean young men and their interaction with physical activity. BMDs of the femoral neck and lumbar spine were measured using dual energy X-ray absorptiometry, and the C298T polymorphism in the osteocalcin gene determined using polymerase chain reaction (PCR)-HindIII restriction fragment length polymorphism (RFLP) method. We did not observe any significant differences in the femoral neck and lumbar spine BMDs across genotypes of this polymorphism in controls, athletes or combined groups, respectively (P>0.05). Therefore, our data suggest that the C298T polymorphism in the osteocalcin gene is not a suitable genetic marker for the susceptibility to BMD.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.11-13
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• 1999

Recently it was reported that Insertion/Deletion polymorphism in the gene coding for Angiotensin-Converting Enzyme (ACE) is associated with human capacity for physical performance. This study was performed to genotyping of the ACE gene to determine the correlation between elite endurance performance and ACE I/D gene polymorphism. DNA sample was obtained from peripheral blood, hair roots and mouth epithelial cell in 739 general population and 200 elite athletic performance students. The ACE gene was amplified by polymerase chain reaction (PCR) using allele specific oligonucleotide primers. 155, 525 bp and 237 bp PCR products indicating the presence of insertion(I) and deletion(D) alleles, respectively, were clearly resolved after electrophoresis on a 2% agarose gel with ethidium bromide. Of the 200 elite athletic performance population subjects, 68(34%) showed ACE genotype 11,100(50%) genotype ID and 32(16%) genotype DD. Of the 739 general population subjects, 259(35.1%) showed ACE genotype 11,363(49.1%) genotype ID and 117(15.8%) genotype DD. Therefore ACE I/D gene polymorphism was not associated with human capacity for physical performance.(p>0.05)

• Journal of Genetic Medicine
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• 제3권1호
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• pp.15-19
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• 1999

We have investigated the genetic variation in the human apo B mRNA editing protein (apobec-1) gene. Exon 3 of the apobec-1 gene was amplified by polymerase chain reaction. After detection of an additional band by single strand conformational polymorphism (SSCP) analysis, sequencing of the SSCP-shift sample revealed a single-base mutation. The mutation was a CGG transversion at codon 80 resulting in a lleRMet substitution. This substitution was confirmed by restriction fragment length polymorphism analysis since a Pvull site is abolished by the substitution. Population and family studies confirmed that the inheritance of the genotypes for apobec-1 gene polymorphism is controlled by two codominant alleles (P1 and P2). A significant difference in plasma triglyceride was detected among the different apobec-1 genotypes in the CAD patients (P<0.05). Our study could provide the basis for elucidating the interaction between genetic variation of the apobec-1 gene and disorders related to lipid metabolism.