• Parasites, Hosts and Diseases
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• 제51권3호
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• pp.353-355
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• 2013

There are approximately 20 known species of the genus Cryptosporidium, and among these, 8 infect immunocompetent or immunocompromised humans. C. hominis and C. parvum most commonly infect humans. Differentiating between them is important for evaluating potential sources of infection. We report here the development of a simple and accurate real-time PCR-based restriction fragment length polymorphism (RFLP) method to distinguish between C. parvum and C. hominis. Using the CP2 gene as the target, we found that both Cryptosporidium species yielded 224 bp products. In the subsequent RFLP method using TaqI, 2 bands (99 and 125 bp) specific to C. hominis were detected. Using this method, we detected C. hominis infection in 1 of 21 patients with diarrhea, suggesting that this method could facilitate the detection of C. hominis infections.

• 생명과학회지
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• 제21권1호
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• pp.155-158
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• 2011

Uncoupling protein (UCP) 3 유전자는 갈색지방세포의 미토콘드리아 내막에 존재하며 탈공역 산소(uncoupling oxygen)를 통해 ATP를 생산하는 것으로 알려져 있다. 이는 세포 내의 과다 에너지를 열로 발산시키는 기능을 하고 있다. 본 연구는 돼지의 UCP 3 유전자 내 missense mutation의 유전자형을 조사하고 경제형질과의 연관성을 분석하기 위하여 실시하였다. 돼지의 UCP3 유전자의 염기서열 분석을 통해 1405 bp 지역에서(accession number: AY739704) G염기가 A염기로 치환되는 변이를 확인하였다. 확인된 변이지역은 G가 A로 치환됨으로 인해 150번째 아미노산 서열이 glycine (GGG)에서 arginine (AGG)으로 바뀌는 missense mutation임을 확인하였다. 각 유전자형의 빈도는 0.164(GG), 0.587(GR) 그리고 0.249(RR)로 확인되었으며, 각 대립유전자의 빈도는 0.458(G)과 0.542(R)로 확인되었다. 돼지 UCP3의 G150R 유전자형과 경제형질 간의 연관성을 분석한 결과 등지방두께에 있어 유의적인 연관성이 검출되고 일당증체량과 90 kg 도달일령에서는 유의적인 값이 검출되지 않았다.

• Tuberculosis and Respiratory Diseases
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• 제71권4호
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• pp.254-258
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• 2011

Background: Although the aging process and features of chronic obstructive pulmonary disease (COPD) have several similarities, the relationship between aging and COPD pathogenesis remains incompletely understood. The klotho gene was found to be related to premature aging and emphysematous changes in an animal model. We investigated whether klotho gene polymorphisms are related to COPD susceptibility and emphysema severity. Methods: A total of 219 COPD subjects from the Korean Obstructive Lung Disease Cohort and 305 control subjects were genotyped for two single nucleotide polymorphisms (SNPs) of the klotho gene associated with coronary artery disease. Logistic regression was performed to determine the association of these SNPs with COPD susceptibility and linear regression was performed to investigate their association with emphysema severity in COPD subjects. Results: The mean age of the COPD subjects was 66 years and their mean FEV1 was 1.46 L. There were no associations between either SNP or COPD susceptibility (p=0.6 and 0.2, respectively) and there were no associations with emphysema severity. Conclusion: Genetic polymorphisms of the klotho gene were not associated with COPD in a Korean population.

• Asian Pacific Journal of Cancer Prevention
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• 제17권4호
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• pp.2093-2097
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• 2016

Background: HCV is a major global health problem. IL-27 is a member of the IL-6/IL-12 cytokine family with a broad range of anti-inflammatory properties. Recent studies highlighted the effect of a SNP in the IL-27 promoter region on modulating the progression of infectious diseases and individual responses to therapy. Aim of the work: The present study investigated the potential role of (-964 A/G) SNP in the promoter region of IL-27p28 gene (alleles rs153109) on the outcome of HCV infection among genotype 4a infected patients. Materials and Methods: HCV genotyping confirmed that all of the HCV-infected patients had genotype 4a infection. Genomic DNA was extracted from 111 patients with chronic HCV infection, 42 spontaneous resolvers (SR) and 16 healthy controls. IL- 27p28.rs153109 genotyping was assessed using PCR-RFLP then confirmed by DNA sequencing. Results: The frequency of IL-27-p28.rs153109AA, AG, and GG genotypes among chronically infected subjects were 74.8 %, 25.2%, and 0% while among the SR, they were 57.1%, 35.7%, and 7.14%, respectively. Our data show the unique presence of G/G genotype in the SR group (3 patients; 7.14%). Moreover, the "G" allele frequencies among chronic and resolved subjects were 12.6% and 25.0%, respectively (p=0.0136). Importantly, subjects with the GG genotype were more likely to clear their HCV infection than those with the AA genotype (p=0.0118). Conclusions: HCV genotype 4a subjects with the IL-27-p28.rs153109 A/G and G/G genotype were more likely to clear their HCV infection. Therefore, we propose IL- 27p28.rs153109SNPas a genetic biomarker for predicting HCV infection outcome.

• Journal of Pharmaceutical Investigation
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• 제39권6호
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• pp.411-416
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• 2009

The aim of this study was to investigate the frequency of the SNPs on PEPT1 exon 5 and 16 and to analyze haplotype frequency on PEPT1 exon 5 and 16 in Korean population. A total of 519 healthy subjects was genotyped for PEPT1, using pyrosequencing analysis and polymerase chain reaction-based diagnostic tests. Haplotype was statistically inferred using an algorithm based on the expectation-maximization (EM). PEPT1 exon 5 G381A genotyping revealed that the frequency for homozygous wild-type (G/G), heterozygous (G/A) and homozygous mutant-type (A/A) was 30.4, 53.4 and 16.2%, respectively. PEPT1 exon 16 G1287C genotyping revealed that the frequency for homozygous G/G, heterozygous G/C and homozygous C/C type was 88.8, 10.0 and 1.2%, respectively. Based on these genotype data, haplotype analysis between PEPT1 exon 5 G381A and exon 16 G1287C using HapAnalyzer and PL-EM has proceeded. The result has revealed that linkage disequilibrium between alleles is not obvious (|D'|=0.3667).

• Journal of Preventive Medicine and Public Health
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• 제39권2호
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• pp.130-134
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• 2006

Objectives : Oxidative DNA damage is a known risk factor of lung cancer. The glutathione peroxidase (GPX) antioxidant enzyme that reduces hydrogen peroxide and lipid peroxides plays a significant role in protecting cells from the oxidative stress induced by reactive oxygen species. The aim of this case-control study was to investigate effects of oxidative stress and genetic polymorphisms of the GPX1 genes and the interaction between them in the carcinogenesis of lung cancer. Methods : Two hundreds patients with lung cancer and 200 age- and sex-matched controls were enrolled in this study. Every subject was asked to complete a questionnaire concerning their smoking habits and their environmental exposure to PAHs. The genotypes of the GPX1 and 8-oxoguanine glycosylase 1 (hOGG1) genes were examined and the concentrations of urinary hydroxypyrene (1-OHP), 2-naphthol and 8-hydroxydeoxyguanosine (8-OH-dG) were measured. Results : Cigarette smoking was a significant risk factor for lung cancer. The levels of urinary 8-OH-dG were higher in the patients (p<0.001), whereas the urinary 1-OHP and 2-naphthol levels were higher in the controls. The GPX1 codon 198 polymorphism was associated with an increased risk of lung cancer. Individuals carrying the Pro/Leu or Leu/Leu genotype of GPX1 were at a higher risk for lung cancer (adjusted OR=2.29). In addition, these individuals were shown to have high urinary 8-OH-dG concentrations compared to the individuals with the GPX1 Pro/Pro genotype. On the other hand, the polymorphism of the hOGG1 gene did not affect the lung cancer risk and the oxidative DNA damage. Conclusions : These results lead to a conclusion that individuals with the GPX1 Pro/Leu or Leu/Leu genotype would be more susceptible to the lung cancer induced by oxidative stress than those individuals with the Pro/Pro genotype.

• 생물정신의학
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• 제23권4호
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• pp.148-156
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• 2016

Objectives According to previous studies, the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. Some studies have linked the (AAT)n trinucleotide repeat polymorphism in CNR1 gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) has been regarded as one of the most consistent endophenotypes of schizophrenia. In this study, we investigated the association between the (AAT)n trinucleotide repeats in CNR1 gene and SPEM abnormality in Korean patients with schizophrenia. Methods We measured SPEM function in 167 Korean patients with schizophrenia (84 male, 83 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated allele frequencies of (AAT)n repeat polymorphisms on CNR1 gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of (AAT)n trinucleotide repeats. Results The natural logarithm value of signal/noise ratio (Ln S/N ratio) of the good SPEM function group was $4.34{\pm}0.29$ and that of the poor SPEM function group was $3.21{\pm}0.70$. In total, 7 types of trinucleotide repeats were identified, each containing 7, 10, 11, 12, 13, 14, and 15 repeats, respectively. In the patients with $(AAT)7$ allele, the distributions of the good and poor SPEM function groups were 18 (11.1%) and 19 (11.0%) respectively. In the patients with $(AAT)_{10}$ allele, $(AAT)_{11}$ allele, $(AAT)_{12}$ allele, $(AAT)_{13}$ allele, $(AAT)_{14}$ allele and $(AAT)_{15}$ allele, the distributions of good and poor SPEM function groups were 13 (8.0%) and 12 (7.0%), 4 (2.5%) and 6 (3.5%), 31 (19.8%) and 35 (20.3%), 51 (31.5%) and 51 (29.7%), 36 (22.2%) and 45 (26.2%), 9 (5.6%) and 4 (2.3%) respectively. As the number of (AAT) n repeat increased, there was no aggravation of abnormality of SPEM function. Conclusions There was no significant aggravation of SPEM abnormality along with the increase of number of (AAT)n trinucleotide repeats in the CNR1 gene in Korean patients with schizophrenia.

• BMB Reports
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• 제37권6호
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• pp.691-699
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• 2004

Osteoporosis is a disease characterized by exaggerated loss of bone mass, with as much as 50 to 85% of the variation in bone mineral density (BMD) commonly accepted as being genetically determined. Although intensive studies have attempted to elucidate the genetic effects of polymorphisms on BMD and/or osteoporosis in several genes, the genes involved are still largely unknown. The possible associations of genetic variants in five-candidate genes (IL10, CCR3, MCP1, MCP2 and GC) with spinal BMD were investigated in Korean postmenopausal women (n = 370). Fourteen SNPs in five candidate genes were genotyped, and the haplotypes of each gene constructed. The associations of adjusted spinal BMD by age, year since menopause (YSM) and body mass index (BMI), with genetic polymorphisms, were analyzed using multiple regression models. Genetic association analysis of Korean postmenopausal women revealed that IL10 -592A > C and/or IL10 ht2 were associated with decreased bone mass, whereas no significant associations were observed with all polymorphisms in other genes. The levels of spinal BMD in individuals bearing the IL10 -592CC genotype were lower ($0.78{\pm}0.16$) than those in others ($0.85{\pm}0.17$) (P = 0.02), and the BMD of IL10 ht2 bearing individuals were also lower ($0.82{\pm}0.15$) than those in others ($0.85{\pm}0.17$) (P = 0.04). Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.

• 생명과학회지
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• 제16권5호
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• pp.812-827
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• 2006

멸치의 유전적 집단구조 및 지리적 거리를 조사하기 위하여 한국근해 및 외해역 12개 정점에서 채집된 멸치의 미토콘드리아 DNA control 부위를 대상으로 염기서열을 상호 비교 및 분석했다. 염기서열 분석결과 89개체 중 29 haplotype이 나타났고, 상호 염기치환율은 0-3.5% 차이를 보였다. E9 haplotype이 근해 및 외해역에서 가장 넓게 분포하고 있는 것으로 나타났다 (58.3%). 반면에, E26, E27, E28, E29 haplotype 들은 서남해역 (정점 10)에서만 보였다. PHYLIP 프로그램을 이용한 유전적 관계에서도 두개의 clade로 분리되었다. E26, E27, E28, E29 haplotype을 제외한 나머지 haplotype 들은 상호 잘 유지되는 것으로 나타났다 (bootstrap 75% 이상). 그러나 clade A와 B bootstrap은 매우 약하게 나타났다 (51%). haplotype 간의 상호분석 결과 다양도는 0.75-1.00, 염기다양도는 0.015-0.0244로 보였다.

• Neonatal Medicine
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• 제18권1호
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• pp.42-48
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• 2011

목적: 기관지폐이형성증(bronchopulmonary dysplasia,BPD)의 발생에는 폐의 염증반응이 중요하게 작용한다. Tumor necrosis factor-$\alpha$ (TNF-$\alpha$)는 대표적인 proinflammatory cytokine으로, TNF-$\alpha$ 고생산 부위의 단일염기다형성과 BPD발생 사이의 연관성을 알아보고자 하였다. 방법: 2006년 1월부터 12월까지 서울대학교병원에서 출생하여 신생아중환자실에 입원한 재태주령 32주 미만이면서 출생체중 1,500 g 미만의 미숙아 93예를 대상으로, 실시간 중합효소연쇄반응을 이용하여, TNF-$\alpha$ 유전자 촉진자 5개 부위(-1031T/C,-863C/A, -857C/T, -308G/A, -238G/A)의 단일염기다형성을 분석하였다. 결과: BPD 군은 전체연구대상93예 중에서 38예로40.9%에 해당하였다. BPD 군에서 대조군보다 재태연령($27^{+5}{\pm}2^{+0}$ wk vs. $29^{+2}{\pm}1^{+4}$ wk, P<0.0001)과 출생체중(990${\pm}$270 g vs. 1,220${\pm}$230 g, P<0.0001)이 낮고, 신생아 호흡곤란증후군(71.1% vs. 49.1%, P=0.035) 과 동맥관개존(71.1% vs. 50.9%, P=0.052) 의 발생빈도가 높아서 두 군간의 임상적 특성에는 차이가 있었다. 그러나 TNF-$\alpha$ 유전자 단일염기다형성 분석에서는, 각각의 TNF-$\alpha$ 대립유전자의 빈도와 일배체형의 분포 모두가 BPD 군과 대조군 사이에 차이를 보이지 않았다. 결론: 한국인 조산아에서는, TNF-$\alpha$ 유전자 다형성보다는 임상적인 위험인자가 BPD 발생에 중요하게 작용하였다.