EPSTI1 polymorphisms are associated with systemic lupus erythematosus

모지수,채수천 한국유전학회 2017 Genes & Genomics Vol.39 No.4

Epithelial stromal interaction 1 (EPSTI1) is an interferon (IFN) response gene, which was originally identified as a stromal fibroblast-induced gene in breast cancer. Our previous study using a customized SNP chip found evidence of an association between EPSTI1 and susceptibility to the chronic inflammatory disease, systematic lupus erythematosus (SLE). This study aimed to validate whether polymorphisms in EPSTI1 are associated with susceptibility to SLE. We analyzed genotype and allele frequencies of SNPs at EPSTI1 using genomic DNA from 119 patients with SLE and 512 healthy controls. We found that the genotype frequencies of rs1044856 and rs1359184 in patients with SLE were significantly different from those found in the control group (P = 0.03 and P = 0.01, respectively). In addition, we found that genotype and allele frequencies of rs1359184 in female patients with SLE were significantly different from those found in female controls (P = 0.02 and P = 0.04, respectively). We identified two major haplotypes in EPSTI1 that were significantly different between patients with SLE and healthy controls (P = 0.01 and P = 0.05, respectively). Furthermore, we found that rs1359184 and rs1044856 in EPSTI1 were associated with antinuclear antibody (ANA) and erythrocyte sedimentation rate (ESR) levels in patients with SLE (P = 0.0035 and P = 0.021, respectively). Our findings indicate that polymorphisms in EPSTI1 are associated with susceptibility to SLE and that haplotypes at EPSTI1 may be useful genetic markers for SLE.

Anti-cariogenic Properties of ɑ-Pinene, a Monoterpene in Plant Essential Oil

박복임,유용욱,모지수,안소연,최나영,김강주 대한구강생물학회 2017 International Journal of Oral Biology Vol.42 No.1

Dental caries is the most common chronic disease in the dental field. Streptococcus mutans (S. mutans) is the most important bacteria in the formation of dental plaque and dental caries. In a previous study, we confirmed that the essential oil of Chrysanthemum boreale has antibacterial activity against S. mutans. Alpha-pinene is one of the major chemical components of Chrysanthemum boreale essential oil. In the present study, we investigated the inhibitory effects of ɑ-pinene on cariogenic properties such as growth, acid production, biofilm formation, and bactericidal activity on S. mutans. Alpha-pinene at a concentration range of 0.25-0.5 mg/mL significantly inhibited the growth of S. mutans and acid production of S. mutans. Biofilm formation was significantly inhibited at > 0.0625 mg/mL ɑ-pinene, similar to the data from scanning electronic microscopy. Under confocal laser scanning microscopy, the bacterial viability was decreased by ɑ-pinene in a dose-dependent manner. These results suggested that ɑ-pinene may be a useful agent for inhibiting the cariogenic properties of S. mutans.

LoRa 모듈을 이용한 반려동물 관리시스템 구현

박세준,최익현,유태준,모지수,이상호 한국인터넷방송통신학회 2018 한국인터넷방송통신학회 논문지 Vol.18 No.5

지속적으로 성장하는 반려동물 관련 시장과 더불어 반려동물 관리에 대한 관심이 증가하여 반려동물 관리 시스템의 필요성이 증가하고 IoT 관련 기술의 발전으로 관련 시스템 개발이 가능하게 되었다. 본 논문은 아두이노와 LoRa모듈을 사용 한 기기와 안드로이드 어플리케이션 간의 Bluetooth 4.0 통신 및 LoRa 통신을 통해 거리에 따른 다양한 통신방법을 구현하였 다. 본 논문에서 개발한 시스템에서 사용자는 안드로이드 어플리케이션과 반려동물에 부착된 기기 간 통신을 통해 실시간으 로 위치정보를 받아 볼 수 있고, 반려동물 정보 저장, 반려동물 관리 일정, 산책경로 저장 등 다양한 기능을 통해 반려동물을 보다 쉽고 편리하게 관리 할 수 있다. Along with the growing market for pets and the increasing interest in pet management, the need for pet management systems is increasing. Development of IoT-related technologies has made it possible to develop the related systems. This paper implements a variety of functions through Bluetooth 4.0 and LoRa communication between devices using Arduino and Android applications depending on distances. In the paper, users can receive real-time location information through the communication between Android applications and devices attached to pets, store pet information, manage pet information, and store stroll courses more conveniently with the developed system.

Association of Thymic Stromal Lymphopoietin Receptor (TSLPR) Polymorphisms with the Susceptibility of Rheumatoid Arthritis in a Korean Population

Ji-in Yu(유지인),Ji-Su Mo(모지수),Soo-Cheon Chae(채수천) 한국생명과학회 2013 생명과학회지 Vol.23 No.7

사람의 TSLPR는 염증 유발 및 알러지 반응에 중요한 역할을 한다. 우리는 TSLPR 유전자에서 11개의 유전자 다형성과 2개의 유전적 변이 부위를 발굴하였고, 이들 TSLPR 유전자 다형성이 아토피 천식의 민감성과 연관성이 있음을 확인 하였다. 이에 우리는 TSLPR 유전자 다형성과 류마티스 관절염과의 연관성에 대해서도 알아 보고자 하였다. 457명의 류마티스 관절염 환자군과 570명의 정상 대조군으로 TSLPR 유전자 다형성의 genotype과 allele frequencies를 비교 분석 해본 결과 두 그룹 간에 유의성이 없었고, 류마티스 관절염 여성 그룹에서의 비교 분석에서도 두 그룹 간에 유의성이 없었다. 또한, 류마티스 관절염 환자에서 TSLPR 유전자 다형성이 RF나 CCP levels에 영향을 미치지 않는 것으로 분석 되었다. 따라서, TSLPR 유전자 다형성이 한국인에서의 류마티스 관절염에 대한 민감성과 연관성이 없는 것으로 생각된다. Human thymic stromal lymphopoietin receptor (TSLPR) might play an important role in the development of inflammatory and allergic responses. We previously identified eleven single nucleotide polymorphisms (SNPs) and two variation sites in the TSLPR gene and showed that all the SNPs of the TSLPR gene are associated with susceptibility to atopic asthma. The present study aimed to investigate whether the TSLPR gene SNPs are associated with susceptibility to rheumatoid arthritis (RA). We compared the genotype and the allele frequencies of the TSLPR SNPs in 457 RA patients and 570 healthy controls. The genotype and the allele frequencies of the TSLPR gene SNPs in the RA patients were not significantly different from the respective frequencies of the healthy controls. Additional analysis showed that the genotype and the allele frequencies of the TSLPR gene SNPs did not appear to be associated with RA in female RA patients. The TSLPR gene SNPs in the RA patients did not affect the production of rheumatoid factor (RF) and antisynthetic cyclic citrullinated peptide (CCP). Our results suggest that the TSLPR gene SNPs are not associated with susceptibility to RA in the Korean population.

Identification of the Polymorphisms in IFITM2 and IFITM5 Genes and their Association with Ulcerative Colitis

Hun-Soo Kim(김헌수),Ji-Su Mo(모지수),Khondoker Jahengir Alam(알롬 콘도칼자항길),Won-Cheol Park(박원철),Keun Young Kim(김권영),Soo-Cheon Chae(채수천) 한국생명과학회 2015 생명과학회지 Vol.25 No.1

Interferon inducible transmembrane protein (IFITM) family 유전자는 인터페론(IFNs)의 동형 세포부착 기능 및 세포의 항-증식 활성과 같은 몇 가지 세포증식 과정에 연관되어 있다. 본 연구에서는 IFITM2 및 IFITM5 SNPs이 궤양성대장염의 감수성과 연관되어 있는지 알아 보고자 했다. 본 연구에서 직접 염기서열 분석법을 사용하여 IFITM2 유전자에서 총 13개, IFITM5 유전자에서는 12개의 유전적 변이를 발굴하였다. 이들의 SNPs의 유전자형 분석은 PCR-RFLP 법과 Taq-Man probe 분석법을 사용하였고, 일배체형 빈도 분석은 EM algorithm을 사용하여 분석하였다. 궤양성대장염 환자에서 IFITM2 및 IFITM5 SNPs의 유전자형과 대립유전자 빈도는 건강인 대조군과 비교했을 때 유의성이 없었다. 궤양성대장염 환자와 정상인 대조군에서 IFITM1의 rs77537847, IFITM2의 rs909097, IFITM5의 rs56069858을 지표로 하는 유전자형 조합 빈도를 분석한 결과 주된 유전자형 조합빈도에서는 유의성이 없는 것으로 나타났으나, 궤양성대장염 환자와 건강인 대조군의 GGT 유전자형조합 빈도 분석에서는 유의하게 다른 차이를 보였다(p=0.002). 이러한 결과에 의거하여 IFITMs의 SNPs 유전자형 조합이 궤양성대장염의 감수성과 연관성이 있고, 궤양성대장염의 유용한 유전자 마커로 사용 할 수 있다고 생각된다. Interferon inducible transmembrane protein (IFITM) family genes have been implicated in various cellular processes such as the homotypic cell adhesion functions of IFNs and cellular anti-proliferative activities. The present study aimed to investigate whether the polymorphisms of the IFITM2 and IFITM5 genes are associated with susceptibility to UC. We identified a total of thirteen polymorphisms (eleven SNPs and two variations) in the IFITM2 gene and twelve polymorphisms (eleven SNPs and one variation) in the IFITM5 gene, by the direct sequencing method. Genotype analysis in the IFITM2 and IFITM5 SNPs was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Taq-Man probe analysis, and the haplotype frequencies of IFITM2 and IFITM5 SNPs for multiple loci were estimated using the expectation maximization (EM) algorithm. The genotype and allele frequencies of IFITM2 SNPs, as well as IFITM5 SNPs, in UC patients were not significantly different from those of the healthy controls. We also analyzed the combined frequencies of rs77537847 of IFITM1, rs909097 of IFITM2, and rs56069858 of IFITM5 in the UC patients and the healthy controls. Although the distribution of the major combined genotype frequency did not differ significantly between the healthy controls and the UC patients, the GGT combined frequency in the healthy controls was significantly different from that in the UC patients (P=0.002). This result suggests that the combined genotype of the IFITMs polymorphisms may be associated with a susceptibility to UC and could be a useful genetic marker for UC.