• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.191-194
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• 2012

We conducted a case-control study in China to clarify the association between XRCC1-Arg399Gln polymorphism and HCC risk. A total of 150 cases and 158 controls were selected from the the Affiliated Hospital of Qingdao University from May 2008 to May 2010. XRCC1-Arg399Gln polymorphism was based upon duplex polymerase-chain-reaction with the confronting-two-pairprimer (PCR-CTPP) method. All analyses were performed using the STATA statistical package. A significantly increased risk was associated with the Arg/Gln genotype (adjusted OR 1.78, 95%CI=1.13-2.79) compared with genotype Arg/Arg. In contrast, the Gln/Gln genotype had non-significant increased risk of HCC with adjusted OR (95%CI) of 1.69 (0.93-2.66). A significant association was found between positive HBsAg and Arg/Gln, with an OR of 3.43 (95% CI=1.45-8.13). Patients carrying Gln/Gln genotypes showed significantly lower median survival than Arg/Arg genotypes (HR=1.38, 95% CI=1.04-1.84). Further Kaplan-Meier analysis showed decreased median survival in Arg/Gln+Gln/Gln genotype carriers in comparison to Arg/Arg carriers (HR=1.33, 95% CI=1.02-1.76). In conclusion, we observed that XRCC1-Arg399Cln polymorphism is associated with susceptibility to HCC, and XRCC1 Gln allele genotype showed significant prognostic associations.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1583-1588
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• 2016

Background: Polycystic ovary syndrome (PCOS) is considered to be a multifactorial disorder resulting from the interaction of several predisposing and protective genetic variants. PCOS is associated with low-grade chronic inflammation. Elevated levels of inflammatory markers including intercellular adhesion molecule-1 (ICAM-1) are demonstrated in women with PCOS. Recent evidence indicates a significant linkage between a locus on chromosome 19p13 and multifactorial diseases that have an inflammatory component. The aim of the study was to assess the possible association of Gly241Arg polymorphism of ICAM-1 gene located on chromosome 19p13 in determining risk of PCOS in Kashmiri women. Materials and Methods: Gly241Arg SNP in DNA from peripheral blood leukocytes of 220 PCOS cases and 220 age matched non-PCOS healthy controls was analysed using allel specific PCR. Results: The genotype and allele frequency distributions of Gly241Arg SNP showed insignificant difference between the PCOS cases and control women, indicating no role of this SNP in PCOS susceptibility. The odds ratio for Arg/Arg genotype was 0.87 (95% CI=0.32-2.3) [P=0.79], for Gly/Arg genotype was 0.98 (95% CI= 0.66-1.47) [P=1] and for Arg/Arg+Gly/Arg genotype was 0.97 (95% CI=0.65-1.45) [P=0.92]. The genotypic frequencies of ICAM-1codon 241 showed statistically insignificant difference between cases and controls (${\chi}^2=0.07$; p=0.96) Nor the studied polymorphism was found to affect clinical and laboratory parameters significantly. Conclusions: Although Gly241Arg polymorphism have not shown significant association with PCOS. Further, specifically designed studies on large cohorts are required to conclusively establish any role of ICAM-1 gene polymorphisms in PCOS in our study.

• 대한치과교정학회지
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• 제34권3호
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• pp.261-267
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• 2004

비증후군성 구순구개열은 가장 빈도가 높은 선천성 기형 중의 하나로 특히 한국이나 일본과 같은 극동 지방에서 높은 발생율을 보이고 동유럽에서는 드물게 보고되고 있다. 이러한 인종에 따른 차이는 이 질환에 유전적인 배경이 있음을 의미한다. 본 연구의 목적은 한국인의 비증후군성 구개열과 연관이 있다고 알려진 SfaN1 단일 염기 다형성증의 발현빈도가 한극인 구개열 가족과 루마니아 구순구개열 가족 사이에 통계적으로 유의할만한 차이가 있는지를 알아보기 위하여 시행하였다. 한국인 26가족과 루마니아 18가족을 대상으로 하였다. 전체 인원수는 한국인의 경우 78명이었고 루마니아의 경우 41명이었다. 유전자 서열분석에 사용된 샘플은 각 참여자의 혈액이나 타액을 채취하여 분석하였다. SfaN1 단일 염기 다형성 증은 $TGF-{\beta}3$ 유전자의 5번 인트론에서 관찰된다 (A18141G) 결과를 보면 한국인과 루마니아인의 비증후군성 구개열 가족사이에는 통계적으로 유의할만한 차이 가 인지되었다. 전체 샘플 중에서 AA allele는 한국인에서는 18명(23.1%)이었으나 루마니아는 27명(65.9%)이었다. AS allele는 한국인에서는 27명 (34.6%)이었으나 루마니아에서는 13명 (31.7%)이었다. GG allele는 한국인에서는 33명 (42.3%)이었으나 루마니아에서는 1명 (2.4%)이었다. 두 집단 사이의 차이는 통계적으로 유의하였다 (p<0.001). 결론적으로 한국인과 루마니아인의 비증후군성 구개열 가족 사이에 SfaN1 단일 염기 다형성증의 발현빈도는 한국인에서 통계적으로 유의할만하게 높게 나타났으며, 이는 한국에서 루마니아보다 비증후군성 구개열의 빈도가 높게 나타나는 현상을 부분적으로 설명하여 주는 것으로 사료된다.

• 한국환경성돌연변이발암원학회지
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• 제21권2호
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• pp.106-112
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• 2001

In view of the effect of factor Ⅶ as a risk factor for essential hypertension, we investigated the length (I/D) polymorphism at position 323 promoter region and exon 8-Msp I RFLP of the human factor Ⅶ gene in the Korean patients with essential hypertension and normal controls. There were no significant differences in the allele, genotype and haplotype frequencies of these polymorphisms between normotensive and essential hypertensive subjects. The significant linkage disequilibrium was however, detected between two polymorphic sites. The Msp I RFLP and I/D polymorphism were also significantly associated with plasma triglyceride (TG) levels. Therefore, our results suggest that the significant association between two genetic variations in the human factor Ⅶ gene and plasma TG level may reflect the potential role of human factor Ⅶ gene as one of the genetic components for cardiovascular risk.

• Asian-Australasian Journal of Animal Sciences
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• 제21권2호
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• pp.155-160
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• 2008

Several studies have reported quantitative trait loci (QTL) for meat quality on porcine chromosome 2 (http://www.animalgenome.org/QTLdb/pig.html). For application of the molecular genetic information to the pig industry through marker-assisted selection, single nucleotide polymorphism (SNP) markers were analyzed by comparative re-sequencing of polymerase chain reaction (PCR) products of 13 candidate genes with DNA from commercial pig breeds such as Berkshire, Yorkshire, Landrace, Duroc and Korean Native pig. A total of 34 SNPs were identified in 15 PCR products producing an average of one SNP in every 253 bp. PCR restriction fragment length polymorphism (RFLP) assays were developed for 11 SNPs and used to investigate allele frequencies in five commercial pig breeds in Korea. Eight of the SNPs appear to be fixed in at least one of the five pig breeds, which indicates that different selection among pig breeds might be applied to these SNPs. Polymorphisms detected in the PTH, CSF2 and FOLR genes were chosen to genotype a Berkshire-Yorkshire pig breed reference family for linkage and association analyses. Using linkage analysis, PTH and CSF2 loci were mapped to pig chromosome 2, while FOLR was mapped to pig chromosome 9. Association analyses between SNPs in the PTH, CSF2 and FOLR suggested that the CSF2 MboII polymorphism was significantly associated with several pork quality traits in the Berkshire and Yorkshire crossed F2 pigs. Our current findings provide useful SNP marker information to fine map QTL regions on pig chromosome 2 and to clarify the relevance of SNP and quantitative traits in commercial pig populations.

• 생물정신의학
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• 제2권2호
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• pp.237-247
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• 1995

도파민 $D_3$ 수용체 유전자와 정신분열증 병인과의 연관성을 밝히고자 본 연구에서는 한국에서의 정신분열증환자 66명과 정상대조군 76명에서 다형성의 분포를 PCR을 이용하여 환자대조연구 방법으로 조사하였다. 정신분열증환자에서 대립유전자 1의 빈도는 0.66이었고, 정상 대조군에서는 0.76이었다. 즉, 두군간에 대립유전자 1의 빈도에는 유의한 차이가 없었고, 양성 및 음성 증상군 척도평가에 의한 정신분열증의 양성아형과 음성아형간에도 유의한 차이가 없었다. 정신분열증 환지에서는 전체 66명중 동형 접합체가 43명으로 65.1%. 이형 접합체는 23명으로 34.9%였다. 정상 대조군에서는 전체 76명중 동형접합체가 54명으로 71.1%. 이형접합체는 28.9%였다. 이러한 결과는 이전의 정신분열증과 도파민 $D_3$ 수용체 유전자간의 연관관계를 연구한 외국의 연구결과와 일치하며 도파민 $D_3$ 수용체 유전자가 정신분열증 병인의 원인일 것이라는 가설을 뒷받침하지는 못하였다.

• IMMUNE NETWORK
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• 제2권4호
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• pp.242-247
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• 2002

Background: Tumor necrosis factor-alpha (TNF-$\alpha$) is known to play an important role in various conditions such as inflammation, autoimmunity, apoptosis, insulin resistance and sleep induction. Five single nucleotide polymorphisms (SNPs) have been known to affect the transcriptional activities of TNF-$\alpha$: -1,031T/C, -863C/A, -857C/T, -308G/A and -238G/A. Methods: We have investigated 5 SNPs of the promoter region of TNF-$\alpha$ gene, the distribution of 5-locus TNF-$\alpha$ haplotypes, and their haplotypic associations with previously typed HLA-A, -B and -DRB1 loci in 107 healthy unrelated Koreans. TNF-$\alpha$ SNPs were typed using PCR-single-strand conformation polymorphism (SSCP) and PCR-restriction fragment length polymorphism (RFLP) methods. Results: The allele frequencies of -1,031C, -863A, -857T, -308A, and-238A, which are known as the high-producer-type, were 19.3%, 15.9%, 14.0%, 5.9%, and 2.9%, respectively. The frequency of -308A allele, known to be associated with autoimmune diseases, was 5.9% in Koreans which was lower than Caucasians (14~17%) and somewhat higher than Japanese (1.7%). Five most common TNF-$\alpha$ haplotypes (-1,031/-863/-857/-308/-238) comprised over 95% of total haplotypes: TCCGG (58.4%), CACGG (14.8%), TCTGG (13.7%), TCCAG (5.3%), and CCCGA (3.1%). Strong positive associations (P<0.001) were observed between TCCGG and B62; between CACGG and B51, $DRB1^*0901$; between TCTGG and B35, B54, B59, $DRB1^*1201$; and between TCCAG and A33, B58, $DRB1^*0301$, $DRB1^*1302$. Five most common extended haplotypes (>3%) comprised around 16% of total haplotypes: A33-B58-TCCAG-$DRB1^*1302$, A24-B52-TCCGG-$DRB1^*1502$, A33-B44-TCCGG-$DRB1^*1302$, A24-B7-TCCGG-$DRB1^*0101$, and A11-B62-TCCGG-$DRB1^*0406$. The distribution of extended HLA and TNF-$\alpha$ haplotypes showed that most of HLA haplotypes were almost exclusively associated with particular TNF-$\alpha$ haplotypes. Conclusion: The results obtained in this study would be useful as basic data for anthropologic studies and disease association studies in Koreans.

• Asian Pacific Journal of Cancer Prevention
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• 제15권19호
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• pp.8311-8317
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• 2014

Background: Evidence supporting an association between the 8q24 rs4242382-A polymorphism and prostate cancer (PCa) risk has been reported in North American and Europe populations, though data from Asian populations remain limited. We therefore investigated this association by clinical detection in China, and meta-analysis in Asian, Caucasian and African-American populations. Materials and Methods: Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=335) and from age-matched normal controls (n=347). The 8q24 (rs4242382) gene polymorphism was genotyped by polymerase chain reaction-high-resolution melting analysis. We initially analyzed the associations between the risk allele and PCa and clinical covariates. A meta-analysis was then performed using genotyping data from a total of 1,793 PCa cases and 1,864 controls from our study and previously published studies in American and European populations, to determine the association between PCa and risk genotype. Results: The incidence of the risk allele was higher in PCa cases than controls (0.222 vs 0.140, $P=7.3{\times}10^{-5}$), suggesting that the 8q24 rs4242382-A polymorphism was associated with PCa risk in Chinese men. The genotypes in subjects were in accordance with a dominant genetic model (ORadj=2.03, 95%CI: 1.42-2.91, $Padj=1.1{\times}10^{-4}$). Presence of the risk allele rs4242382-A at 8q24 was also associated with clinical covariates including age at diagnosis ${\geq}65$ years, prostate specific antigen >10 ng/ml, Gleason score <8, tumor stage and aggressive PCa, compared with the non-risk genotype ($P=4.6{\times}10^{-5}-3.0{\times}10^{-2}$). Meta-analysis confirmed the association between 8q24 rs4242382-A polymorphism and PCa risk (OR=1.62, 95%CI: 1.39-1.88, $P=1.0{\times}10^{-5}$) across Asian, Caucasian and African American populations. Conclusions: The replicated data suggest that the 8q24 rs4242382-A variation might be associated with increased PCa susceptibility in Asian, Caucasian and African American populations. These results imply that this polymorphism may be a useful risk biomarker for PCa in multi-ethnic populations.

• Journal of Plant Biology
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• 제36권2호
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• pp.127-132
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• 1993

Self-incompatibility in Brassica campestris is controlled by multi-allele system in a single genetic locus, the S locus, and it is elucidated that S-glycoproteins are S gene products. In this experiments, we examined the genetic mode(pollen tube behavior and segregation of S-glycoprotein), characteristic of S-glycoproteins and DNA constitution within nuclear genome on S gene family that unexplained by single locus model, and investigated the segregation pattern of S-glycoproteins in bred F1 generation. By diallel cross among the 15 plants within one family the existence of three types of homozygotes and three types of heterozygotes were observed, and segregation of S-allele could not explained by single locus model. From the results of IEF-immunoblot analysis for non-segregated individual plant, the segregation pattern of S specific bands was corresponded with results of diallel cross except with one case(SaSa genotype). The molecular weight of 6 different S-genotype varied in near by 50 kD, and each genotype expressed with 2 or 3 bands. Specific bands in SaSa, SbSb, ScSc has almost similar molecular weight between them. Southern analysis of genomic DNA probed with S-glycoprotein cDNA for 6 different genotypes revealed that there are clear difference in polymorphism, multiple bands of hybridization, when restriction enzymes of EcoR I were used. It could be assumed that there are several sequences related to the S-glycoprotein structural genes within their nuclear genome. Therefore, we suggested the possibilities that S-allele system could be controlled by multi-locus, that dominance-recessive interactions could be explained by modifier gene or supressor gene based on the results of abnormal segregation of S-glycoprotein in bred F1. The F2 analyses are progressing in now.

• Animal cells and systems
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• 제9권2호
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• pp.95-100
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• 2005

Essential hypertension results from the complex interaction between genetic and environmental factors. A C825T polymorphism of the gene encoding G-protein ${\beta}3$ subunit (GNB3), associated with enhanced G-protein coupled signaling and increased $Na^+-H^+$ exchanger, has been implicated in the development of essential hypertension in several human populations, especially in Caucasian population. We examined the disease relevance of this candidate gene by performing an association study in a study group of Korean heritage. Participants comprised 109 essential hypertensives and 109 normotensives, respectively. Genotyping was performed with PCR-BsaJI restriction digestion method. Observed genotype frequencies were in Hardy-Weinberg equilibrium in all groups. Genotype and allele frequencies did not differ significantly between normotensives and essential hypertensives (P>0.05). However, the serum total cholesterol (TC) and LDL-cholesterol levels were significantly higher in subjects with the TT genotype compared to those with the CC or CT genotypes in normotensives of our study subjects (P<0.05). Thus, these results suggest that GNB3/C825T polymorphism might be significantly associated with abnormality in serum lipid metabolism.