• 제목/요약/키워드: disease susceptibility

검색결과 587건 처리시간 0.03초

Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach

  • Ratih Dewi Yudhani;Dyonisa Nasirochmi Pakha;Suyatmi Suyatmi;Lalu Muhammad Irham
    • Genomics & Informatics
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    • 제21권3호
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    • pp.37.1-37.11
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    • 2023
  • Systemic lupus erythematosus (SLE) is an inflammatory-autoimmune disease with a complex multi-organ pathogenesis, and it is known to be associated with significant morbidity and mortality. Various genetic, immunological, endocrine, and environmental factors contribute to SLE. Genomic variants have been identified as potential contributors to SLE susceptibility across multiple continents. However, the specific pathogenic variants that drive SLE remain largely undefined. In this study, we sought to identify these pathogenic variants across various continents using genomic and bioinformatic-based methodologies. We found that the variants rs35677470, rs34536443, rs17849502, and rs13306575 are likely damaging in SLE. Furthermore, these four variants appear to affect the gene expression of NCF2, TYK2, and DNASE1L3 in whole blood tissue. Our findings suggest that these genomic variants warrant further research for validation in functional studies and clinical trials involving SLE patients. We conclude that the integration of genomic and bioinformatic-based databases could enhance our understanding of disease susceptibility, including that of SLE.

The interaction between gut microbiome and nutrients on development of human disease through epigenetic mechanisms

  • Lee, Ho-Sun
    • Genomics & Informatics
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    • 제17권3호
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    • pp.24.1-24.8
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    • 2019
  • Early environmental exposure is recognized as a key factor for long-term health based on the Developmental Origins of Health and Disease hypothesis. It considers that early-life nutrition is now being recognized as a major contributor that may permanently program change of organ structure and function toward the development of diseases, in which epigenetic mechanisms are involved. Recent researches indicate early-life environmental factors modulate the microbiome development and the microbiome might be mediate diet-epigenetic interaction. This review aims to define which nutrients involve microbiome development during the critical window of susceptibility to disease, and how microbiome modulation regulates epigenetic changes and influences human health and future prevention strategies.

Co-Occurrence of Two Phylogenetic Clades of Pseudoperonospora cubensis, the Causal Agent of Downy Mildew Disease, on Oriental Pickling Melon

  • Lee, Dong Jae;Lee, Jae Sung;Choi, Young-Joon
    • Mycobiology
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    • 제49권2호
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    • pp.188-195
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    • 2021
  • The genus Pseudoperonospora, an obligate biotrophic group of Oomycota, causes the most destructive foliar downy mildew disease on many economically important crops and wild plants. A previously unreported disease by Pseudoperonospora was found on oriental pickling melon (Cucumis melo var. conomon) in Korea, which is a minor crop cultivated in the temperate climate zone of East Asia, including China, Korea, and Japan. Based on molecular phylogenetic and morphological analyses, the causal agent was identified as Pseudoperonospora cubensis, and its pathogenicity has been proven. Importantly, two phylogenetic clades of P. cubensis, harboring probably two distinct species, were detected within the same plots, suggesting simultaneous coexistence of the two clades. This is the first report of P. cubensis causing downy mildew on oriental pickling melon in Korea, and the confirmation of presence of two phylogenetic clades of this pathogen in Korea. Given the high incidence of P. cubensis and high susceptibility of oriental pickling melon to this disease, phytosanitary measures, including rapid diagnosis and effective control management, are urgently required.

Association of the CD226 Genetic Polymorphisms with Risk of Tuberculosis

  • Jin, Hyun-Seok;Park, Sangjung
    • 대한의생명과학회지
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    • 제23권2호
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    • pp.89-95
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    • 2017
  • Tuberculosis (TB), mainly disseminated by infection of the respiratory tract, remains an unsolved community health problem by Mycobacterium tuberculosis (MTB). However, because of the different susceptibility to MTB, people infected with MTB do not all develop TB. These differences of disease arise from individual genetic susceptibility as well as the property of the microorganisms itself. CD226, one of the genetic factors that influences TB, interact with its ligand PVR and ITGB2. It is induced various cellular responses that contribute multiple innate and adaptive responses. In a previous study, CD226 enhanced immune efficacy induced by Ag85A DNA vaccination that is secreted protein by MTB. The aim of this study was to investigate the association between six genetic polymorphisms of CD226 gene and TB status with Korean population. Our results show that two SNPs of CD226 were identified to associate with tuberculosis. The highest significant SNP was rs17081766 (OR=0.70, CI: 0.54~0.90, $P=5.4{\times}10^{-3}$). According to this study, polymorphisms of CD226 gene affect the outbreak of TB in MTB-infected patients. It is suggested that polymorphism of other genes also associated with immune responses results in susceptibility to TB. The results from this study suggest that not only the characteristics of the microorganism itself but also the genetic background of the individual may affect progression of TB in MTB-infected patients.

Single-nucleotide polymorphisms in prion protein gene of the Korean subspecies of Chinese water deer

  • Jeong, Hyun-Jeong;Lee, Joong-Bok;Park, Seung-Yong;Song, Chang-Seon;Kim, Bo-Sook;Rho, Jung-Rae;Yoo, Mi-Hyun;Jeong, Byung-Hoon;Kim, Yong-Sun;Choi, In-Soo
    • 대한수의학회지
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    • 제49권1호
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    • pp.59-62
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    • 2009
  • Susceptibility to chronic wasting disease (CWD) in cervid species has been associated with polymorphisms in the prion protein gene (PRNP). The single nucleotide polymorphisms (SNPs) were found in the PRNP of the Korean subspecies of Chinese water deer via analyses of the DNA sequences obtained from 34 individual deer. Two SNPs were detected at codons 77 and 100. One SNP at codon 77 encoding Glycine was determined to be a silent mutation but the other SNP detected at codon 100 induced an amino acid change, from Asparagine to Serine. The prion protein (PrP) amino acid sequence of the water deer showed 98.8-99.2% homology with those of American elk, white-tailed deer and mule deer. The PrP of the water deer contained amino acid residues closely related with CWD-susceptibility. This study is the first to describe genetic variations in the PRNP of the Korean subspecies of Chinese water deer.

더러브렛 말의 피부병변에서 분리한 Staphylococcus intermedius의 약제 감수성 양상 (Antimicrobial Susceptibility Patterns of Staphylococcus intermedius Isolated from Skin Lesions of Thoroughbred Horse.)

  • 최성균;박청규;권오덕;조길재
    • 생명과학회지
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    • 제18권3호
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    • pp.369-373
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    • 2008
  • Staphylococcus intermedius (S. intermedius) has been rarely isolated from horse. In this study, we investigated the antimicrobial susceptibility patterns of S. intermedius isolated from skin lesions of Thoroughbred horse in Daegu Equestrian Association. The skin lesions were showed with dehairing and slight purulent inflammation. Bacteria were isolated from skin lesions and identified as S. intermedius by biochemical tests and MicroLog (BIOLOG, California, USA). Antimicrobial susceptibility test of S. intemedius isolates was performed with 33 antimicrobial agents (BBL, Maryland, USA) by using the agar disk diffusion method. It showed a high sensibility in the amikacin, amoxycillin/clavuramic acid, ampicillin, cefoxitin, cephalothin, chloramphenicol, ciprofloxacin, enrofloxacin, florfenicol, kanamycin, neomycin, nitrofurantoin, norfloxacin, ofloxacin, oxacillin, penicillin G, tetracycline and vancomycin. The horse was treated with penicillin, and cured completely after two weeks. The present results showed valuable information for treatment and prevention of skin disease in horse.

제주지역에서 사육중인 더러브렛 말 호흡기로부터 분리된 병원성 Streptoccus spp.의 생화학성상 및 약제감수성 양상 (Biochemical characteristics and antimicrobials susceptibility of pathogenic Streptoccus spp. isolated from respiratory tract of Thoroughbred horses in Jeju, Korea)

  • 최성균;김성국;조길재
    • 한국동물위생학회지
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    • 제34권3호
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    • pp.209-216
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    • 2011
  • This study carried out to investigate the pathogenic Streptococcus spp. isolated from respiratory tract of Thoroughbred in Jeju province. The specimens were collected from nasal mucosa using a culture swab from 113 Thoroughbred horses. Suspected colonies were selected onto blood and MacConkey agar plate, and identified by standard biochemical properties using Vitek 2 system and PCR method. In this study, we isolated S. equi (n=6), S. zooepidemicus (n=31), S. equisimilis (n=5), S. dysgalactiae (n=2), S. agalctiae (n=1), non identified ${\beta}$-hemolytic Streptococcus spp. (n=1) from Thoroughbred horses. In antimicrobial susceptibility test, it showed a high sensibility in the most of antimicrobial except for neomycin, streptomycin, spectinomycin, erythromycin and clindamycin. These results will provide the basic information to establish control measures for the treatment and prevention of respiratory disease by pathogenic Streptococcus spp. in Thoroughbred horses in Korea.

Lack of Association between the Klotho Gene and COPD

  • Kim, Woo-Jin;Oh, Yeon-Mok;Kim, Tae-Hyung;Lee, Ji-Hyun;Kim, Eun-Kyung;Lee, Jin-Hwa;Lee, Sang-Min;Shin, Tae-Rim;Yoon, Ho-Il;Lim, Seong-Yong;Lee, Sang-Do
    • 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.

2010/2011년도 한국 발생 구제역 확산에 관한 연구 (A study on the spread of the foot-and-mouth disease in Korea in 2010/2011)

  • 황지현;오창혁
    • Journal of the Korean Data and Information Science Society
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    • 제25권2호
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    • pp.271-280
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    • 2014
  • 구제역은 전염성이 높고 치명적 결과를 유발하는 우제류 전염병이며, 2010/2011년도에 국내에서 발생한 구제역 (2010/2011 구제역)은 사회 및 경제적으로 국가에 재난 수준의 손실을 끼쳤다. 따라서 국가적 차원에서 구제역의 예방과, 발병 시 피해를 줄이려는 많은 노력을 하고 있다. 이러한 노력의 하나로 구제역의 전염 현상을 확률적으로 모형화하고 이해하려는 노력이 필요하다. 영국에서 발생한 2001년 구제역은 그 규모와 피해가 막대하여, 영국에서는 다양한 확률적 모형으로 구제역 전파 현상에 대한 이해를 통하여 미래의 발생에 대비하려는 연구가 이루어져 왔다. 그러나 2010/2011 구제역에 대하여는 확률적 모형을 활용한 연구가 미미한 편이다. 따라서 본 연구에서는 2010/2011 구제역에 대하여 시간-공간 확률 SIR 확률모형을 가정하고 시간과 공간에 따르는 전파 현상에 대하여 고찰한다. 농림수산검역검사본부에서 발표한 구제역 감염데이터와 통계청의 전국농가센서스 자료의 일부인 전체 우제류 농가의 데이터가 본 연구의 분석에 필요한 정도로 상세하지 않으므로 추정 및 보정작업을 통하여 데이터를 보완하였다. 감염데이터를 이용하여 커널함수를 추정하고, 전국 우제류 농장데이터를 이용하여 시뮬레이션을 통하여 모형의 모수를 추정하였다.

건강신념모형을 적용한 사무직 근로자의 근골격계질환에 대한 인식도 및 예방프로그램 요구도 조사 (A Study on the Perception and Needs of Prevention Program for Musculoskeletal Disease of Office Workers Based on the Health Belief Model)

  • 박상순;정혜선
    • 한국직업건강간호학회지
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    • 제15권1호
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    • pp.50-57
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    • 2006
  • Purpose: The purpose of this study was to research the health belief, perception and need of prevention program for musculoskeletal disease of office workers in a public corporation. Method: We surveyed 339 office workers at a industry based in Ahn Yang, Kyunggi Province, with questionnaires, during the period June 3rd - June 18th, 2004. Result: Forty-four percent of the subjects said they had musculoskeletal symptoms, and 10.9% said they had received medical treatment for musculoskeletal disease in the last year. Factors that affected perception of musculoskeletal disease were appeared to be perceived severity, perceived barrier, cue to action, marital status, regular exercise and age, and they explained 23.2% of perception of musculoskeletal disease. Factors that affected need of prevention program appeared to be perceived susceptibility, perceived severity, perceived benefit and PC using hours, and they explained 20.8% of need of prevention program. Conclusion: In conclusion, we suggested that in management the prevention of musculoskeletal disease for office workers, it should be considered nursing intervention strategies to reinforce health belief.

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