• Journal of Korean Neurosurgical Society
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• 제49권1호
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• pp.8-12
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• 2011

Objective: Ossification of the posterior longitudinal ligament (OPLL) has a strong genetic component. Specific gene polymorphisms may be associated with OPLL in several genes which regulate calcification in chondrocytes, change of extracellular collagen matrix and secretions of many growth factors and cytokines controlling bone morphogenesis. Toll-like receptor 5 (TLR5) may playa role in the pathogenesis of OPLL by intermediate nuclear factor-kappa B (NF-${\kappa}B$). The current study focused on coding single nucleotide polymorphisms (SNPs) of TLR5 for a case-control study investigating the relationship between TLR5 and OPLL in a Korean population. Methods: A total of 166 patients with OPLL and 231 controls were recruited for a case-control association study investigating the relationship between SNPs of TLR5 gene and OPLL. Four SNPs were genotyped by direct sequencing (rs5744168, rs5744169, rs2072493, and rs5744174). SNP data were analyzed using the SNPStats, SNPAnalyzer, Haploview, and Helixtree programs. Multiple logistic regression analysis with adjustment for age and gender was performed to calculate an odds ratio (OR). Results: None of SNPs were associated with OPLL in three alternative models (codominant, dominant, and recessive models; p> 0.05). A strong linkage disequilibrium block, including all 4 SNPs, was constructed using the Gabriel method. No haplotype was significantly associated with OPLL in three alternative models. Conclusion: These results suggest that Toll-like receptor 5 gene may not be associated with ossification of the posterior longitudinal ligament risk in Korean population.

• Asian-Australasian Journal of Animal Sciences
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• 제18권10호
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• pp.1375-1378
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• 2005

The objective of this study was to investigate polymorphisms of BMPRIB (bone morphogenetic protein type IB receptor) gene and its effect on litter size traits in sheep. Three populations including 101 Small Tailed Han sheep, 79 Poll Dorset and 81 hybrids (Poll Dorset${\times}$Small Tailed Han sheep) were used to detect the polymorphisms in exon 6 region of sheep BMPRIB gene. A fragment of approximately 190bp was amplified by one pair of primers, the polymorphism was revealed from the analysis of three populations by the technique of PCR -SSCP, and a mutation from A to G at 746 of the coding region was confirmed by sequencing in several individual. Statistical results indicated the distribution of allele B (with a A$\longrightarrow$G mutation) and A (without mutation) or genotype AA, AB and BB frequencies differed in three populations. BB genotype (44.55%) and B allele (66.34%) frequencies of Small Tailed Han sheep were higher than those of the others. Analysis of variance showed that the polymorphism of BMPRIB gene was associated with positive effect on litter size traits. The means of genotype BB and AB were about 1.04 and 0.74 more than genotype AA for litter size (p<0.05). Analysis of BMPRIB genotype effects on litter size in three populations indicates the existence of genotype BB or B allele increases the litter size. It suggested that the polymorphism in exon 6 (at 746 in the coding region) of sheep BMPRIB gene may be used as a marker for early selection of prolificacy in sheep.

• Asian Pacific Journal of Cancer Prevention
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• 제15권20호
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• pp.8709-8713
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• 2014

Background: Previous studies have indicated that single nucleotide polymorphisms (SNPs) of the interleukin-17 (IL-17) gene are associated with an increased risk of gastric cancer. However, the findings were inconsistent. Materials and Methods: To provide a more reliable estimation of the association between SNPs in the IL-17 gene and the susceptibility to gastric cancer, we searched PubMed, CNKI, and Wan Fang databases and selected finally six studies covering 2,366 cases and 3,205 controls to perform a meta-analysis. Results: Statistical analyses showed that an rs2275913 polymorphism within the IL-17A gene was significantly associated with an increased risk of gastric cancer using a generalized odds ratio (ORG, a model-free approach). Moreover, we also found that the 'A' allele carriers of IL-17A rs2275913 had a significant link with clinicopathological features. However, no significant positive signals were observed in the association analysis of the rs3748067 and rs763780 polymorphisms with the risk of gastric cancer in IL-17A and IL-17F, respectively. Conclusions: Despite some limitations, the present meta-analysis provided a more precise estimation of the relationship between the IL-17 gene SNPs and gastric cancer risk compared with individual studies.

• 대한의생명과학회지
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• 제25권3호
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• pp.237-246
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• 2019

Left ventricular hypertrophy (LVH) refers to the expansion and the enlarged myocardium due to the increased resistance to ejection from the left ventricle to the aorta and/or the periphery, or the long-term burden imposed by the blood increase. Hypertension is a major risk factor that accounts for more than 50% of the causes of cardiovascular disease. If hypertension endure in the long term, the myocardium responds to abnormal heartbeat in the heart. Therefore, the prevalence of left ventricular hypertrophy also increases. As a result of genome-wide association study (GWAS) analysis for European people, PDGFC, MARK3, and BCL2 were related to blood pressures. In this study, the genetic polymorphisms of PDGFC, MARK3, and BCL2 were extracted and selected based on Korean genomic and epidemiologic data, and then logistic regression analysis was performed on LVH. As a result, one SNP (rs9307953) in PDGFC gene, four SNPs (rs6575983, rs17679475, rs2273703 and rs10141388) in MARK3 gene and two SNPs (rs17756073 and rs17070739) in BCL2 gene were statistically significant. The rs6575983 of the MARK3 gene showed the highest significance level ($P=7.2{\times}10^{-3}$) among the SNPs and the relative risk of 1.08 (95% confidence interval: 1.06 to 1.45). These results suggest that the polymorphisms of PDGFC, MARK3, and BCL2 not only affect European blood pressures but also correlate with LVH in Korean. These results suggest that increased understanding of the genetic correlations of the pathogenesis of LVH.

• Clinical and Experimental Pediatrics
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• 제52권4호
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• pp.476-480
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• 2009

목 적 : 저자들은 가와사키병 환아에서 TNF-alpha 유전자의 다형성을 조사함으로써 가와사키병과 유전자 다형성의 관련 여부를 알아보고, 또한 관상동맥 병변의 발생과 연관이 있는지를 살펴보려 하였다. 방 법 : 2003년 1월부터 2007년 1월까지 가와사키병 환아 51명과 대조군 48명을 대상으로 TNF-alpha 촉진자의 단일 유전자 다형성을 살펴보았으며, 가와사키병 환아 중 관상동맥 병변이 있는 24명(관상동맥병변군)과 관상동맥 이상이 없었던 27명(정상관상동맥군)에서의 유전자 다형성을 또한 비교하였다. 말초 혈액에서 DNA를 추출하여 TNF-alpha 유전자 -308 부위의 촉진자에 위치한 2개의 단일 염기 서열 G/A에 대한 대립 유전자의 다형성을 Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) 방법으로 분석하였다. 결 과 : 가와사키병 환아군에서의 -308번 TNF-alpha 유전자의 다형성은 51명 중 9명으로 17.6%였고, 정상 대조군에서는 48명 중 3명으로 6.8%로 가와사키병 환아군에서 높았으나 통계학적으로 유의성은 없었다. 가와사키병 환아 중 관상동맥병병군 24명 중 3명인 12.5%에서 유전자 다형성이 있었고 정상관상동맥군은 27명 중 6명인 22.2%로 정상관상동맥군에서 더 높은 빈도 이었으나 통계학적으로 유의하지 않았다. 결 론 : 본 연구에서는 가와사키병 환아의 TNF-alpha의 다형성과 가와사키병의 발병과의 관련성이 통계학적으로 유의한 수준은 아니지만 가와사키병 환아에서 G/A 빈도수가 17.6%으로 대조군에서 6.8% 보다 다소 높게 나타난 결과를 얻었고 앞으로 많은 수의 환아를 대상으로 한다면 유의한 차이가 있을 것으로 생각되므로 향후 대규모의 지속적인 연구가 필요할 것이다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권5호
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• pp.2311-2314
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• 2012

Genetic polymorphisms of uridine diphosphate-glucuronosyltransferases 1A6 (UGT1A6) and 1A7 (UGT1A7) may lead to genetic instability and colorectal cancer carcinogenesis. Our objective was to measure the interaction between polymorphisms of these repair genes and tobacco smoking in colorectal cancer (CRC). A total of 68 individuals with CRC and 112 non-cancer controls were divided into non-smoker and smoker groups according to pack-years of smoking. Genetic polymorphisms of UGT1A6 and UGT1A7 were examined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). We found a weak association of UGT1A6 polymorphisms with CRC risk (crude odds ratio [OR], 1.65;95% confidence interval [95% CI], 0.9-3.1, P=0.107; adjusted OR 1.95%, 95% CI 1.0-3.8, P=0.051). The ORs for the UGT1A7 polymorphisms were statistically significant (crude OR: 26.40, 95% CI: 3.5-198.4, P=0.001; adjusted OR: 21.52, 95% CI: 2.8-164.1, P=0.003). The joint effect of tobacco exposure and UGTIA6 polymorphisms was significantly associated with colorectal cancer risk in non-smokers (crude OR, 2.11; 95% CI, 0.9-5.0, P=0.092; adjusted OR 2.63, 95% CI, 1.0-6.7, P=0.042). In conclusion, our findings suggest that UGT1A6 and UGT1A7 gene polymorphisms are associated with CRC risk in the Japanese population. In particualr, UGT1A6 polymorphisms may strongly increase CRC risk through the formation of carcinogens not associated with smoking.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4315-4320
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• 2012

Background: The P53 tumor suppressor gene plays a pivotal role in maintaining cellular homeostasis by preventing the propagation of genome mutations. P53 in its transcriptionally active form is capable of activating distinct target genes that contribute to either apoptosis or growth arrest, like P21. However, the MDM2 gene is a major negative regulator of P53. Single nucleotide polymorphisms (SNP) in codon Arg72Pro of P53 results in impairment of the tumor suppressor activity of the gene. A similar effect is caused by a SNP in codon 31 of P21. In contrast, a SNP in position 309 of MDM2 results in increased expression due to substitution of thymine by guanine. All three polymorphisms have been associated with increased risk of tumorigenesis. Aim of the study: We aimed to study the prevalence of SNPs in the P53 pathway involving the three genes, P53, P21 and MDM2, among acute myeloid leukemia (AML) patients and to compare it to apparently normal healthy controls for assessment of impact on risk. Results: We found that the P21 ser31arg heterozygous polymorphism increases the risk of AML (P value=0.017, OR=2.946, 95% CI=1.216-7.134). Although the MDM2 309G allele was itself without affect, it showed a synergistic effect with P21 ser/arg polymorphism (P value=0.003, OR=6.807, 95% CI=1.909-24.629). However, the MDM2 309T allele abolish risk effect of the P21 polymorphic allele (P value=0.71). There is no significant association of P53 arg72pro polymorphism on the risk of AML. Conclusion: We suggest that SNPs in the P53 pathway, especially the P21 ser31arg polymorphism and combined polymorphisms especially the P21/MDM2 might be genetic susceptibility factors in the pathogenesis of AML.

• Molecular & Cellular Toxicology
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• 제4권2호
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• pp.124-131
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• 2008

The growing problem of obesity is associated with numerous medical conditions. Several studies have reported that activation of thyroid hormone receptor beta $(THR{\beta})$ is involved in lipid metabolism and thermogenesis. To identify the relationship between the $THR{\beta}$ gene and obesity, we genotyped eighty two single nucleotide polymorphisms (SNPs) in the gene using the Affymetrix array chip in 209 overweight/obese and 155 normal subjects in Korean population. Of the eighty two polymorphisms, the seven SNPs exhibited a significant association with overweight/obesity in three alternative models (codominant, dominant, and recessive models; P<0.05 after adjusting for age and sex) were rs826221 (+267878 T>C), rs4858604 (+186399 A>G), rs1158265 (+200152 T>C), rs1868575 (+206031 G>A), rs1700939 (+238467 T>A), rs1505301 (+241933 T>C), and rs1924768 (+126491 T>C). During haplotype analysis using HapAnalyzer software, 2 haplotypes (block 13: TTAT; block 15: CTGC) containing significant polymorphisms (rs1700939 +238467 T>A and rs4858604 +186399 A>G) were detected to be significantly different. The results suggest that the $THR{\beta}$ gene may be associated with overweight/obesity in Korean population.

• Asian Pacific Journal of Cancer Prevention
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• 제15권3호
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• pp.1263-1267
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• 2014

Background: Matrix metalloproteinases (MMPs) play important roles in pathogenesis and development of cancer. Recently, many studies have show associations between polymorphisms in the promoter regions of MMPs and risk of gastric cancer. The present meta-analysis was conducted in order to investigate the potential association between four polymorphisms in the MMP gene and gastric cancer risk. Methods: A computerized literature search was conducted in databases of Med-line, Embase, Science Citation Index and PubMed till June 2013 for any MMP genetic association study of gastric cancer. Odds ratios (ORs) and 95 % confidence intervals (CIs) were estimated for each gene under dominant and recessive models, and heterogeneity between studies was assessed using the Q test and $I^2$ value. Overall and subgroup analyses according to ethnicity were carried out with Stata 12.0. Results: 14 reports covering 8,146 patients (2,980 in the case group and 5,166 in the control group) were included in the present meta-analysis. We found that the MMP-7 (-181A>G) polymorphism increased the gastric cancer risk in therecessive model (GG vs. AA/AG, OR=1.768, 95% CI =1.153-2.712). For MMP2 -1306 C>T, MMP1-1607 1G/2G, and MMP9-1 562 C>T, there were no associations between these polymorphisms and the risk of gastric cancer under dominant or recessive models. Conclusion: This meta-analysis suggested that the MMP7-181 A>G polymorphism may contribute to gastric cancer susceptibility. More studies are needed, especially in Europeans, in the future.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6613-6618
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• 2013

To evaluate the relationship between alcohol drinking, XRCC1 codon 194 and 399 polymorphisms and risk of colorectal cancer, we conducted a case-control study with 315 colorectal cancer cases (105 colon, 210 rectal) and 439 population-based controls in Jiangsu Province of China. The XRCC1 codon 194 and 399 genotypes were identified using polymerase chain reaction and restrictrion fragment length polymorphism methods (PCR-RFLP). A structured questionnaire was used to elicit detailed information. Odds ratios (ORs) were estimated with an unconditional logistic model. In this study no significant differences were observed among the studied groups with regard to the genotype distribution of the XRCC1 codons 194 and 399 and the risk of colorectal cancer did not appear to be significantly influenced by genotype alone, whereas alcohol consumption showed a positive association (P for trend <0.01). When combined effects of XRCC1 polymorphisms and alcohol consumption were analyzed, we found that the 194Trp or 399Gln alleles further increased the colorectal cancer risk due to high alcohol intake. These findings support the conclusion that colorectal cancer susceptibility may be altered by gene-environment interactions.