• 대한약학회:학술대회논문집
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• 대한약학회 2003년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2-2
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• pp.238.2-239
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• 2003

The purposes of this study were to evaluate the relationship between the genetic polymorphisms in CYP2D6*10 allele, MDR1 (exon 21 and 26) gene and risperidone pharmacokinetics in healthy male Korean subjects. A single dose of 2 mg risperidone tablet was given orally to 23 healthy male Korean volunteers. Blood samples were taken during the 12 hours after the dose. Serum concentrations of risperidone and 9-hydroxyrisperidone were measured using HPLC with UV detector. 23 subjects were genotyped for CYP2D6*10 allele, MDR1 G2677 T and C3435T by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). (omitted)

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6375-6378
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• 2013

Background: The glutathione S transferase (GST) family of enzymes plays a vital role in the phase II biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic and polymorphisms in GST genes have been associated with cancer susceptibility and prognosis. GSTP1 is associated with risk of various cancers including bladder cancer. A case control study was conducted to determine the genotype distribution of GSTP1 A>G SNP, to elucidate the possible role of this SNP as a risk factor in urinary bladder cancer (UBC) development and to examine its correlation with clinico-pathologic variables inUBC cases. Materials and Methods: Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach, we tested the genotype distribution of 180 bladder cancer patients in comparison with 210 cancer-free controls from the same geographical region with matched frequency in age and gender. Results: We did not observe significant genotype differences between the control and bladder cancer patients overall with an odds ratio (OR)=1.23 (p>0.05). The rare allele (AG+GG) was found to be present more in cases (28.3%) than in controls (24%), though the association was not significant (p<0.05). However, a significant risk of more than 2-fold was found for the variant allele (AG+GG) with smokers in cases as compared to controls (p>0.05). Conclusions: Thus, it is evident from our study that GSTP1 SNP is not implicated overall in bladder cancer, but that the rare, valine-related allele is connected with higher susceptibility to bladder cancer in smokers and also males.

• Asian-Australasian Journal of Animal Sciences
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• 제20권9호
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• pp.1342-1348
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• 2007

POU1F1 is a positive regulator for GH, PRL and TSH${\beta}$ and its mutations associate with production traits in ruminant animals. We described a DdeI PCR-RFLP method for detecting a silent allele in the goat POU1F1 gene: TCT (241Ser)>TCG (241Ser). Frequencies of $D_1$ allele varied from 0.600 to 1.000 in Chinese 801 goats. Significant associations of DdeI polymorphism with production traits were found in milk yield (*p<0.05), litter size (*p<0.05) and one-year-old weight (*p<0.05) between different genotypes. Individuals with genotype $D_1D_1$ had a superior performances when compared to those with genotype $D_1D_2$ (*p<0.05). Hence, the POU1F1 gene was suggested to the potential candidate gene for superior milk performance, reproduction trait and weight trait. Genotype $D_1D_1$, characterized by a DdeI PCR-RFLP detection, was recommended to geneticists and breeders as a molecular marker for better performance in the goat industry.

• Childhood Kidney Diseases
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• 제5권2호
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• pp.87-99
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• 2001

목 적 : 본 연구는 소아 미세변화 신증후군 환자와 IgAN에서 apoE 유전자형의 다형성을 알아보고, 스테로이드 반응과 빈발 재발 신증후군에서 apo-E 유전자형의 연관성을 관찰하므로 신증후군 예후인자로의 가능성을 밝히고, 신증후군에서 나타나는 고지질혈증과의 연관성을 알아보고자 하였다. 대상 및 방법 : 43명의 소아 신증후군 환자와 15명의 IgA신병증 한자를 대상으로 apo-E 유전자형을 조사하였다. 대조군은 50명의 혈연관계가 없는 건강한 혈액 공여자를 대상으로 하였다. Genomic DNA는 standard procedure에 따라 말초혈액의 백혈구로부터 분리하였다. 결 과 : 신증후군 환자에서 대조군보다 e4의 빈도가 유의하게 높았다(P<0.01). 그러나 IgAN에서는 e2가 대조군보다 2.6배나 높았다(P<0.01). 빈발재발군 신증후군에서 e4의 빈도가 대조군 보다 4.6배, 비재발군 신증후군 보다 2배 높았다. 특히 e4/4는 빈발 재발군에서만 3명이 발견되었다. apo-E 유전자형에 따른 혈중 알부민, 콜레스테롤, 지질을 비교하였으나 정상 E3군과 E4 변이형에서 유의한 차이는 없었다(P> 0.05). 결 론 :소아 미세변화 신증후군에서 apo-E 유전자형의 연구에서 e4가 대조군 보다 높은 빈도를 보였으며, IgAN에서는 e2와의 연관성을 보였다. e4 유전자형이 특히 빈발 재발군에서 비재발군에서 보다 2배나 높았으며, e4 homozygote는 빈발 재발군에서만 나타나 신증후군의 빈발재발과 스테로이드 의존성의 예후인자의 이용할 수 있으리라 생각된다.

• Asian Pacific Journal of Cancer Prevention
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• 제14권2호
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• pp.665-668
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• 2013

Endothelial nitric oxide synthase (eNOS), encoded by the NOS3 gene, has been suggested to play an important role in uncontrolled cell growth in several cancer types. The objective of this study was to evaluate the role of the NOS3 Glu298Asp polymorphism in bladder cancer susceptibility in a Turkish population. We determined the genotypes of 66 bladder cancer cases and 88 healthy controls. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. A significant association for NOS3 Glu298Asp heterozygotes genotypes and T allele were found between healthy controls and bladder cancer, respectively (p<0.001: p=0.002). There were no significant associations between any genotypes and the stage, grade, and histological type of bladder cancer. Our study suggested an increased risk role of NOS3 GT genotype in bladder cancer susceptibility in our Turkish population.

• Genomics & Informatics
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• 제20권4호
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• pp.42.1-42.11
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• 2022

Breast cancer (BC) is a significant threat to female health, with both modifiable and non-modifiable risk factors. It is essential to monitor patients regularly and to raise population awareness. Increasing research also suggests that E-selectin (SELE) may increase tumor angiogenesis and the development of cancer. This study investigated SELE single-nucleotide polymorphisms (SNPs) in the following positions: rs5367T/C, rs5368C/T, rs5362T/G, and rs5362T/C. Using polymerase chain reaction, significant differences in allele and genotype frequencies were found between BC patients and controls. Position rs5368 was associated with an increased risk of BC for the CT and TT genotypes, with odds ratios (ORs) of 16.3 and 6.90 (Fisher probability = 0.0001, p = 0.005). Women with the T allele had a 19.3-fold higher incidence of BC, while allele C may be a protective allele against BC (OR, 0.05). Heterozygous genotypes at rs5367, rs5362, and rs5362 were significantly more common in BC patients, with ORs of 5.70, 4.50, and 3.80, respectively. These SNPs may be associated with the risk of BC, because the frequency of mutant alleles was significantly higher in patients (OR: 4.26, 3.83, and 4.30, respectively) than in controls (OR: 0.23, 0.30, and 0.20, respectively). These SNPs may be considered a common genotype in the Iraqi population, with the wild-type allele having a protective fraction and the mutant allele having an environmental fraction. The results also revealed a 2-fold increase in gene expression in BC patients compared to controls, with a significant effect (p = 0.017). This study's findings confirm the importance of SELE polymorphisms in cancer risk prediction.

• Journal of Genetic Medicine
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• 제1권1호
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• pp.17-22
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• 1997

The angiotensin converting enzyme (ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cardiovascular diseases. Deletion polymorphism in the ACE gene may be a risk factor for myocardial infarction. The insertion/deletion (I/D) polymorphism of the ACE detected by PCR analysis appears to be associated with hypertension in Koreans and its nucleotide was subcloned into T-vector and its nucleotide sequences were determined. We also examined an association between hypertension and genetic variance of ACE. We identified the angiotensin I-converting enzyme genotype in 127 hypertensive and 189 normotensive Korean subjects. The distribution of ACE genotype II, ID, DD were 39.2%, 40.2%, 20.6% respectively and the frequency for ACE alleles I and D were 0.593 and 0.407, respectively in all subjects. The frequency of D allele in Korean males is higher than that of Korean females (male; 0.438 : female; 0.267), and the frequency of I allele in Korean females is higher than that of Korean males (female; 0.733 : male; 0.562). Genotype distributions of angiotensin I-converting enzyme genes in Korean normal adult population were different from that of Caucasians (P<0.001). There were no significant differences in genotype frequency between the hypertensive control group (n=127) and the normotensive group (n=189). We observed significant differences of ACE genotype distribution between the male group and the female group in total (P=0.001) and in hypertensive Korean subjects (P=0.013).

• Asian Pacific Journal of Cancer Prevention
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• 제17권5호
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• pp.2395-2399
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• 2016

Background: Hepatitis B virus (HBV) is a major risk factor for hepatocellular carcinoma (HCC). Cytokines play an important role in the regulation of immune responses and defense against viral infections. Human interleukin 6 (IL6) is a multifunctional cytokine that participates in these processes. Objective: The aim of this study was to assess the IL6-174 gene polymorphism in patients with chronic hepatitis B virus (HBV) infection as compared with healthy controls in an Iranian population. Materials and Methods: Totals of 297 HBV patients and 368 control individuals were evaluated. Genomic DNA was extracted from peripheral blood and the SSP-PCR (sequence specific primer-polymerase chain reaction) method was applied for genotyping. Results: The frequencies of genotypes C/C, G/G and C/G in HBV cases were 4.7%, 34.3%, 60.9% and in controls were 12.8%, 39.7% and 47.6%, respectively. The frequencies of G and C allele in patients and controls were 78.1%, 21.9% and 67.4%, 32.6 % respectively. There was a significant difference in the frequencies of G/G genotype (CI=1.8-7.1, OR=3.47, P=0.00001) and G allele (CI=1.34-2.23, OR=1.72, P=0.0001) between HBV patients and the control group. Conclusions: These findings suggest that the IL6-174 C/G genotype and the G allele are strongly associated with susceptibility to HBV infection. Demographic information showed that most of the subjects were male (74.4%). According to high frequency of G/G genotype in male participants (63.1%) men probably are more susceptible to hepatitis than women.

• 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)

• Clinical and Experimental Reproductive Medicine
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• 제32권2호
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• pp.171-176
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• 2005

Objective: To investigate whether polymorphism of CYP19 gene is associated with the risk of advanced endometriosis in Korean women. Methods: Blood samples were collected from 202 endometriosis patients and 221 controls. The patients with endometriosis of stages III and IV diagnosed by both pathologic and laparoscopic findings to according modified AFS classification. The women undergoing laparoscopic surgery or laparotomy for non-malignant lesions were included in the control group. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine all individuals' genotype. Results: The heterozygous allele in CYP19 gene was the most common genotypes in both endometriosis and healthy control groups (52.0% vs. 46.1%). CYP19 gene polymorphisms did not show the significant differences between the control group and endometriosis group. Conclusion: The results suggested that the CYP19 genetic polymorphism was not associated with a risk of advanced endometriosis in Korean women.