• 한국임상약학회지
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• 제24권4호
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• pp.231-239
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• 2014

Background and objective: Pravastatin has been shown to have favorable risk-benefit profile when it is administered to hypercholesterolemic subjects to prevent cardiovascular events. However, subjects with impaired OATP1B1 activity may be more susceptible to pravastatin-induced muscle toxicity than subjects with normal OATP1B1 activity. A systematic review was conducted to evaluate the effect of SLCO1B1 genetic polymorphism on pharmacokinetics of pravastatin. Method: Medline$^{(R)}$ and Embase$^{(R)}$ were searched for relevant studies until July 2013. The search terms used were pravastatin AND (SLCO1B1 OR OATP1B1 OR LST1 OR SLC21A6) AND (gene OR $genetic^*$ OR $genomic^*$ OR $pharmacogenet^*$ OR $pharmacogenom^*$ OR $polymorph^*$). Results: A meta-analysis of the area under the concentration-time curve (AUC) of pravastatin in $SLCO1B1^*15$ and $SLCO1B1^*1a/^*1a$ was conducted. Five studies met all the inclusion criteria and methodological requirements. There was no statistically significant difference in the AUC value between $SLCO1B1^*15$ and $SLCO1B1^*1a/^*1a$ (p=0.728). However, $SLCO1B1^*15$ participants exhibited significantly higher AUC values than $SLCO1B1^*1b/^*1b$ carriers (p<0.001). In case of $SLCO1B1^*15^*15$ carriers, they had significantly higher AUC value than $SLCO1B1^*1a/^*1a$ subjects (p=0.002). Lastly, compared with to the subjects of $SLCO1B1^*1a/^*1a$, the carriers of heterozygous $SLCO1B1^*15$ increased the AUC value of pravastatin statistically significantly in Asian population (p=0.014). Conclusion: The present meta-analysis suggests that subjects with $SLCO1B1^*15$ are associated with increased AUC of pravastatin.

• 한국가금학회지
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• 제49권2호
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• pp.99-108
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• 2022

조류 백혈병 바이러스는 암을 유발할 수 있는 전염성이 높은 레트로바이러스의 하나이다. 이는 높은 전파력으로 인해 전 세계적으로 큰 경제적 손실을 초래하고, 다양한 바이러스 하위 그룹이 존재하여 특정 숙주 수용체를 통해 감염이 일어난다. 백혈병 바이러스 A형과 K형 바이러스에 대한 조류 종의 민감성 또는 저항성은 숙주 수용체인 tumor virus locus A(tva)의 유전자형에 의해 결정되고, 바이러스 B형은 숙주 수용체인 tumor virus locus B(tvb)의 유전자형에 의존한다. 대부분 중국에서 tva, tvb 저항성 대립유전자가 밝혀졌지만, 한국에서는 연구된 바가 없다. 본 연구에서는 자연계에 존재하는 화이트 레그혼, 오골계 그리고 한국 재래 닭의 tva, tvb 유전자의 유전형 빈도를 분석하고, 백혈병 바이러스 감염에 대한 저항성을 확인하고자 하였다. 화이트 레그혼에서는 tva와 tvb 모두 민감성 및 저항성 대립유전자를 포함하여 다양한 유전자형을 가지고 있으며, 오골계에서는 tva와 tvb에 대한 저항성 대립 유전자가 존재하였다. 한국 재래 닭에서는 tva의 경우 민감성과 저항성 대립유전자가 섞여 있으며, tvb의 경우 저항성 대립 유전자형이 존재하였다. 또한, 계통에 따라 tva 전사체의 스플라이싱 패턴과 tvb 전사체의 발현 수준에 차이가 있음을 확인하였다. 마지막으로 닭 배아 섬유아세포에서 조류 백혈병 바이러스 시험관내 감염을 통해 오골계 및 한국 재래 닭에서 유전자형 의존적으로 저항성을 획득함을 확인하였다. 이러한 결과는 일부 오골계와 한국 재래 닭이 조류 백혈병 바이러스 아형인 A, B 그리고 K형에 자연적으로 내성이 있으며 선택적 육종을 통해 경제적으로 우수한 형질을 보존할 수 있을 것으로 사료된다.

• Asian-Australasian Journal of Animal Sciences
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• 제29권1호
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• pp.29-35
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• 2016

The aim of the present study was to investigate the effect of single nucleotide polymorphisms in the major histocompatibility complex (MHC) class II gene on resistance to Newcastle disease virus and body weight of the Thai indigenous chicken, Leung Hang Khao (Gallus gallus domesticus). Blood samples were collected for single nucleotide polymorphism analysis from 485 chickens. Polymerase chain reaction sequencing was used to classify single nucleotide polymorphisms of class II MHC. Body weights were measured at the ages of 3, 4, 5, and 7 months. Titres of Newcastle disease virus at 2 weeks to 7 months were determined and the correlation between body weight and titre was analysed. The association between single nucleotide polymorphisms and body weight and titre were analysed by a generalized linear model. Seven single nucleotide polymorphisms were identified: C125T, A126T, C209G, C242T, A243T, C244T, and A254T. Significant correlations between log titre and body weight were found at 2 and 4 weeks. Associations between single nucleotide polymorphisms and titre were found for C209G and A254T, and between all single nucleotide polymorphisms (except A243T) and body weight. The results showed that class II MHC is associated with both titre of Newcastle disease virus and body weight in Leung Hang Khao chickens. This is of concern because improved growth traits are the main goal of breeding selection. Moreover, the results suggested that MHC has a pleiotropic effect on the titre and growth performance. This mechanism should be investigated in a future study.

• Animal cells and systems
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• 제14권1호
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• pp.31-36
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• 2010

The pinewood nematode Bursaphelenchus xylophilus causes pine wilt disease and is a serious economic concern for the forest industry of South Korea. To achieve effective control with limited resources, it is necessary to clarify the transmission routes and mechanisms of dispersal of this organism. Highly polymorphic and easy-to-use molecular markers can be used for investigating this aspect. In this study, we evaluated the usefulness of amplified fragment length polymorphisms (AFLPs) for investigating the genetic variations of B. xylophilus and related individuals from China, Japan, and South Korea. The AFLP patterns obtained in our study were similar to the microsatellite patterns reported in a previous study; our AFLP patterns indicated high genetic variability and cryptic genetic structure, but did not indicate any peculiar geographic structure. Moreover, the genetic distances between individuals suggested that the Korean population was affected to a greater extent by the Chinese population than the Japanese population. Further, the gene flow among the related species appeared to be limited; however, there may be also the possibility of genetic introgression among species. These results confirm the usefulness of AFLPs for understanding the epidemiology of pine wilt disease, thereby contributing to the effective control of this disease.

• Tuberculosis and Respiratory Diseases
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• 제74권5호
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• pp.215-221
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• 2013

Background: Nontuberculous mycobacteria (NTM) are considered opportunistic pathogens, and several species of NTM are associated with human diseases that typically involve the pulmonary, skin/soft tissue, or lymphatic systems; such infection may also cause disseminated diseases. Recent studies have reported increasing rates of NTM-induced disease worldwide. Methods: Respiratory samples are being analyzed for acid-fast bacilli (AFB) culture and NTM identification at Dankook University Hospital in Cheonan, Korea, from September 2005 to September 2011. Identification is performed by using polymerase chain reaction-restriction fragment length polymorphism analysis targeting a novel region of the rpoB gene. Results: A total of 25,133 specimens were received for AFB culture, of which 1,014 (4.0%) were NTM-positive. A total of 267 samples from 186 patients were tested for NTM identifications, and 232 samples from 157 patients were positive for NTM species. Among the patients who tested positive for NTM, 65.6% were men and the average age was 63.3 years. Mycobacterium avium complex, the most commonly detected NTM pathogen, was found in 65.9% of the 232 samples. The annual average percentage of NTM isolates from AFB culture-positive specimens was 31.3%: the highest rate was seen in 2011 (44.3%), followed by 2009 (37.4%) and 2010 (37.2%). An upward trend in NTM incidence was found during the study period. Conclusion: The prevalence of pulmonary NTM isolates continues to increase in Cheonan, suggesting that pulmonary NTM disease is becoming increasingly common.

• Animal cells and systems
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• 제4권1호
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• pp.23-30
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• 2000

Horizontal starch gel electrophoresis for 29 populations (n=543) of the wrinkled frog, Rana rugosa, from Korea and Japan was peformed to assess the degree of genic variation and genetic diversity, and to understand the biogeographic pattern of distribution and speciation. A sum of 22 presumptive loci was screened from 17 enzymes and general proteins. Four loci, Aco, Est-3, Me-2, and Pgm, demonstrated high levels of polymorphism. The degree of average genetic variation of R. rugosa was P=22.7% (9.1-40.9%), Ho=0.086 (0.048-0.165) and He=0.090 (0.042-0.168). In the south-eastern region of the Korean peninsula (Chongsong, Yongchon, Ulsan, Kyongju, Pohang, yongdok and Ulchin), a few unique alleles in the Mpi locus were detected and their biogeographic implications were considered. The degree of genetic differentiation among the Korean populations was moderate (S=0.900), whereas the degree of genetic diversity between Korean and Japanese populations was notably high (S=0.687, D=0.293). This result corresponds with the data obtained by the mitochondrial cytochrome b gene sequence (Lee et al., 1999) suggesting that the Korean and Japanese R. rugosa might have evolved a specific level of genetic differentiation since their geographic isolation.

• 대한소아치과학회지
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• 제25권2호
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• pp.292-303
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• 1998

The arbitrary primer polymerase chain reaction(AP-PCR) and Southern blot restriction fragment length polymorphism(RFLP) were used to genotype the cariogenic pathogen S. mutans in children. Following the morphologic chracteristics of colony on selective medium for S. mutans, total genomic DNA from 155 strains was extracted by conventional methods. Among 155 strains, 143 strains (92.3%) were confirmed S. mutans by PCR with dexA gene and 114 strains were used in this study. Three random sequence 10-base oligonucleotide primers were chosen for AP-PCR. The amplified DNA products were separated electrophoretically in a 2% agarose gel containing ethidium bromide and the banding patterns were compared among different strains. For RFLP analysis, DNA was digested with EcoRI and BamHI, separated on a 0.7 % agarose gel and transferred to a nylon membrane. The membrane was probed with a previously characterised 1.6 kilobases (kb) DNA fragment cloned from gtf B gene of S. mutans. The probe was labeled with isotope[$^{32}P-{\alpha}CTP$], and hybridized fragments were detected with intensifying screen. AP-PCR produced 4-8 DNA bands in the 0.25-10 kb regions and distinguished 9, 10 or 12 genotypes, depending on the specific primer used. Southern blot RFLP analysis revealed 2 hybridization patterns consisting of 1 DNA fragments 450, 500 bp. These results indicate that AP-PCR is more discriminative method for genotyping of S. mutans.

• Journal of Animal Science and Technology
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• 제51권3호
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• pp.185-192
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• 2009

소 염색체 19번에 존재하는 유지방 함량 및 지방산 조성에 영향을 미치는 양적경제 형질 유전자 좌위에서 발견된 지방산 합성 효소인 FASN 유전자는 포화지방산과 불포화지방산의 함량을 조절하는 강력한 후보유전자이다. 본 연구에서 FASN 유전자의 g.17924 A>G 변이를 한우집단과 미국산 육우 집단에서 분석하였고 그 결과는 한우에서는 GG형의 개체빈도가(71%)로 매우 높았으며, 미국산육우에서는 GG형 빈도는 불과(35%)밖에 되지 않았다. 한우 품종에서 FASN 유전자의 염기서열 분석을 하여 27 개의 단일염기 변이를 발견 하였고, 그 중 9개는 본 연구에서 처음으로 밝혀지는 단일염기 변이이다. 한우 집단 100두와 수입우 집단 96에 대하여 유전자형 분석을 수행한 결과, FASN 유전자 내의 4개의 단일염기 변이의 연관 불평형 및 반수체 구역을 연구하였다. g.10568 C>T와 g.11280 G>A 단일염기 변이의 다형성은 한우집단에서 고기의 육색(P=0.004)과 고기의 조직감(P=0.0114)에 고도의 유의성이 통계적인 분석에 의하여 나타났다. 그리고 g.13125 C>T와 g.17924 G>A 다형성은 등지방두께 및 육량지수에 유의성을 관찰할 수 있었다(P=0.0179, 0.0495). 이상의 결과는 소 FASN 유전자 내의 변이들이 한우집단의 불포화 지방산 함량과 도체 형질에 연관성은 차별화된 고급한우육을 생산하기 위한 중요한 DNA 마커로써 활용가치가 있을 것으로 사료된다.

• Genomics & Informatics
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• 제8권3호
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• pp.103-107
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• 2010

The imputation of untyped SNPs enables researchers to validate association findings across SNP arrays and also enables them to test a large number of SNPs to reveal the fine structure of the association peak, facilitating interpretation of the results and the location of causal polymorphisms. In this study, we applied the imputation method to a genomewide association study and recapitulated the previously associated gene loci of blood pressure traits in Korean cohorts. A total of 1,827,004 SNPs were imputed by the IMPUTE program, and we conducted a genomewide association study for systolic and diastolic blood pressure. While no SNPs passed the Bonferroni correction p-value (p=$2.74{\times}10^{-8}$ for 1,827,004 SNPs), 12 novel loci for systolic blood pressure and 16 novel loci for diastolic blood pressure were detected by imputed SNPs, with $10^{-5}$ < p-value < $10^{-4}$. Moreover, 7 regions (ATP2B1, 10p15.1, ARHGEF12, ALX4, LIPC, 7q31.1, and TCF7L2) out of 14 genetic loci that were previously reported revealed that the imputed SNPs had lower p-values than those of genotyped SNPs. Moreover, a nonsynonymous SNP in the CSMD1 gene, one of the 14 genes, was found to be associated with systolic blood pressure (p<0.05). These results suggest that the imputation method can facilitate the discovery of novel SNPs as well as enhance the fine structure of the association peak in the loci.

• 농업과학연구
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• 제37권3호
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• pp.399-404
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• 2010

닭의 진화를 이해하기 위하여 변이가 많다고 알려진 LYZ 유전자의 엑손과 인트론에 존재하는 단일염기다형이 본 연구를 통해 확인되었다. 2개의 한국 재래실용계에서 총 24개체의 DNA 샘플이 본 연구에서 이용되었으며 단일염기 다형의 확인을 위하여 3개체의 샘플을 혼합하여 염기서열 분석을 실시하였다. 적색야계와의 비교를 통하여 두 한국 재래실용계는 18개의 염기서열변이를 확인할 수 있었으며 한국 재래실용계 간에는 15개의 염기서열 변이를 확인할 수 있었다. 총 33개의 변이 중 두 개의 삽입변이(21 bp와 4 bp)가 확인되었다. 한편, 2번째 엑손의 1426 bp 위치에 존재하는 단일염기 다형(p.Ala49Val)은 아미노산의 변이를 나타내는 미스센스 돌연변이로 확인되었다. 이 돌연변이는 이 lysozyme 효소의 촉매작용을 하는 위치에 놓여 있어 효소의 활성과 밀접한 관계가 있을 것으로 추정된다. 본 연구에서 밝혀진 LYZ 유전자의 변이는 이 유전자의 기능뿐 아니라 한국 재래실용계 집단의 구조를 이해하는데 기초자료로 이용될 것으로 사료된다.