• Asian Pacific Journal of Cancer Prevention
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• 제16권9호
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• pp.3645-3651
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• 2015

Background: Previous studies evaluating the association between the xeroderma pigmentosum group G (XPG) Asp1104His polymorphism and head and neck cancer susceptibility have proven controversial. This meta-analysis of the literature was performed to obtain a more precise estimation of the relationship. Materials and Methods: We systematically searched PubMed, Embase and Web of Science with a time limit of Dec 18, 2014. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association. Results: We performed a meta-analysis of eight published case-control studies, including 3,621 cases and 5,475 controls. Overall, no significant association was found between the XPG Asp1104His polymorphism and head and neck cancer susceptibility under all genetic models. In the subgroup analysis by ethnicity, the XPG Asp1104His polymorphism had statistically significant association with elevated head and neck cancer risk under CC vs GG (OR=1.24, 95% CI=1.00~1.54) and the recessive model (OR=1.22, 95%CI=1.01~1.46) in Asian populations. A similar result was found under CC vs GG (OR =1.22, 95%CI=1.01~1.47) in the population based subgroup by source of control. When performed by tumor site, the XPG Asp1104His polymorphism had statistically significant association with elevated laryngeal cancer under all genetic models (CC vs GG: OR=1.59, 95% CI=1.16~2.19; GC vs GG: OR=1.38, 95%CI=1.10~1.72; dominant model: OR=1.42, 95% CI=1.15~1.74; recessive model: OR=1.36, 95% CI=1.02~1.81). Conclusions: This meta-analysis suggested that the XPG Asp1104His polymorphism is a risk factor for head and neck cancer susceptibility, especially for laryngeal cancer and in Asian populations.

• Asian Pacific Journal of Cancer Prevention
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• 제15권15호
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• pp.6131-6136
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• 2014

Objective: Epidemiology studies have reported conflicting results between glutathione S-transferase Mu-1 (GSTM1), glutathione S-transferase theta-1 (GSTT1) and glutathione S-transferase pi-1 (GSTP1) and ovarian cancer (OC) susceptibility. In this study, an updated meta-analysis was applied to determine whether the deletion of GSTM1, GSTT1 and GSTP1 has an influence on OC susceptibility. Methods: A published literature search was performed through PubMed, Embase, Cochrane Library, and Science Citation Index Expanded database for articles published in English. Pooled odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated using random or fixed effects models. Heterogeneity between studies was assessed using the Cochrane Q test and $I^2$ statistics. Sub-group analysis was conducted to explore the sources of heterogeneity. Sensitivity analysis was employed to evaluate the respective influence of each study on the overall estimate. Results: In total, 10 published studies were included in the final analysis. The combined analysis revealed that there was no significant association between GSTM1 null genotype and OC risk (OR=1.01, 95%CI: 0.91-1.12). Additionally, there was no significant association between GSTT1 genetic polymorphisms and OC risk (OR=0.98, 95% CI: 0.85-1.13). Similalry, no significant associations were found concerning the GSTP1 rs1695 locus and OC risk. Meanwhile, subgroup analysis did not show a significant increase in eligible studies with low heterogeneity. However, sensitivity analysis, publication bias and cumulative analysis demonstrated the reliability and stability of the current meta-analysis. Conclusions: These findings suggest that GSTs genetic polymorphisms may not contribute to OC susceptibility. Large epidemiological studies with the combination of GSTM1 null, GSTT1 null and GSTP1 Ile105Val polymorphisms and more specific histological subtypes of OC are needed to prove our findings.

• 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.

• 대한두경부종양학회지
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• 제22권2호
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• pp.117-122
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• 2006

Background and Objectives : Thyroid carcinoma is the sixth commonest cancer in Korea and the papillary carcinoma is the most common type(88%) of the malignant thyroid tumors. Bulky DNA adducts formed by the carcinogens are repaired by DNA repair process, but failure to repair this DNA damage can cause mutations in oncogenes and tumor suppressor genes resulting in tumor formation. The xeroderma pigmentosum group C(XPC) gene is essential for this repair procedure and the XPC-PolyAT(PAT) polymorphisms may alter DNA repair capacity(DRC) and genetic susceptibility to cancer. Subjects and Methods : In a case-control study of 113 Korean patients with pathologically diagnosed thyroid papillary carcinoma and 65 control subjects, we investigated the association between the three XPC-PAT gene polymorphisms and thyroid papillary cancer susceptibility. Results : The frequency of the variant XPC-PAT allele was lower in the cases(0.349) than in the controls (0.423), but the difference was not significant(p=0.140). Using logistic regression adjusting for age and sex, risk for thyroid papillary cancer was not increased in the XPC-PAT-/+ and XPC-PAT+/+ compared to XPCPAT-/-(adjusted overall odds ratio[95% confidence intervals;95%CI]=0.52[0.26-1.03] and 0.62 [0.22-1.75], respectively; trend test, p=0.167). Conclusion : There are no relationship between the XPC-PAT polymorphism and the risk of thyroid papillary carcinoma in Korean population. Based on our results, XPC-PAT polymorphism do not modulate genetic susceptibility to thyroid papillary cancer.

• 대한수의학회지
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• 제47권1호
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• pp.33-41
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• 2007

Streptococcus spp. comprising Streptococcus (S.) uberis S. dysgalactiae strains is major causeof bovine mastitis from particularly well-managed or low somatic cell count herds that have successfullycontrolled contagious pathogens. In this study, antimicrobial susceptibility and genetic characteristics of S.uberis isolated from clinical or subclinical mastitis milk at 2003 were investigated. Eighty seven isolatesof Streptococus spp. were identified by the conventional biochemical methods. The antimicrobialsusceptibility by disk diffusion method was determined for 46 S. uberis, 11 S. bovis, 10 S. oralis, 6 S.uberis and 14 other Streptococcus spp.. Overall, the tested strains were susceptible to tetracycline (11.5%),amikacin (14.9%), streptomycin (16.1%), neomycin (26.4%), kanamycin (35.6%), gentamicin (65.2%),oxacillin (70.1%), ampicillin (75.9%), chloramphenicol (78.2%), and cephalothin (97.7%). Additionally, S.uberis strains were susceptible to pencillin G (97.8%), but resistant to erythromycin (76.0%) by minimalinhibitory concentration test. The multiple-drug resistance rate of isolated bacteria to 4 more thanamplification fingerprinting patterns amplifed with primer 8.6d showed that 3 to 8 number of distinguishableDNA fragments ranged from 180 bp to 1,20 bp. Thirty seven isolates of S. uberis strains were subtypedinto 8 distinct patterns. Each subtype revealed a typical pattern of antimicrobial susceptibilities. Thesefindings demonstrate that S. uberis isolates were mastitis pathogens of diverse serotypes, and oftenencountered the diverse resistant patterns.

• Genomics & Informatics
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• 제4권3호
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• pp.103-109
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• 2006

IL-28RA is one of the important candidate genes for complex trait of genetic diseases, but there are only a few published results for this gene. Previously, we identified eighteen SNPs and two variation sites in the entire coding regions of IL-28RA including promoter regions, and suggested that the g.32349G>A polymorphism of IL-28RA might be associated with susceptibility to allergic rhinitis. In this study, we chose seven SNPs (g.-1193A>C, g.-30C>T, g.17654C>T, g.27798A>G, g.31265C>T, g.31911C>T and g.32349G>A) of IL-28RA, and attempted to find out whether these polymorphisms were furtherassociated with genetic predisposition of asthma. We analyzed the genotype and allele frequencies of IL-28RA polymorph isms between the asthma patients and healthy controls. We also investigated the frequencies of haplotype constructed by these SNPs between asthma patients and controls. Our results suggest that the polymorphisms of IL-28RA gene were not associated with susceptibility to asthma, and not with IgE production and eosinophil recruitment. The haplotype frequencies by these SNPs also not significantly associated between the healthy controls and asthma patients. This result indicates that the IL -2BRA polymorphisms might be not associated withasthma susceptibility.

• Asian-Australasian Journal of Animal Sciences
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• 제29권11호
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• pp.1530-1540
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• 2016

This study was conducted to estimate the genetic parameters of ${\beta}$-hydroxybutyrate (BHBA) and acetone concentration in milk by Fourier transform infrared spectroscopy along with test-day milk production traits including fat %, protein % and milk yield based on monthly samples of milk obtained as part of a routine milk recording program in Korea. Additionally, the feasibility of using such data in the official dairy cattle breeding system for selection of cows with low susceptibility of ketosis was evaluated. A total of 57,190 monthly test-day records for parities 1, 2, and 3 of 7,895 cows with pedigree information were collected from April 2012 to August 2014 from herds enrolled in the Korea Animal Improvement Association. Multi-trait random regression models were separately applied to estimate genetic parameters of test-day records for each parity. The model included fixed herd test-day effects, calving age and season effects, and random regressions for additive genetic and permanent environmental effects. Abundance of variation of acetone may provide a more sensitive indication of ketosis than many zero observations in concentration of milk BHBA. Heritabilities of milk BHBA levels ranged from 0.04 to 0.17 with a mean of 0.09 for the interval between 4 and 305 days in milk during three lactations. The average heritabilities for milk acetone concentration were 0.29, 0.29, and 0.22 for parities 1, 2, and 3, respectively. There was no clear genetic association of the concentration of two ketone bodies with three test-day milk production traits, even if some correlations among breeding values of the test-day records in this study were observed. These results suggest that genetic selection for low susceptibility of ketosis in early lactation is possible. Further, it is desirable for the breeding scheme of dairy cattle to include the records of milk acetone rather than the records of milk BHBA.

• 대한임상검사과학회지
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• 제51권3호
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• pp.323-328
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• 2019

결핵균에 의한 만성 세균성 감염인 결핵은 결핵균의 특성, 숙주의 면역상태와 유전적 감수성의 차이에 의해 잠복성과 활동성으로의 진행정도에 차이가 있다. 결핵균에 대한 숙주 방어 기전은 주로 대식세포, T 세포 및 수지상 세포 사이의 상호 작용에 기인한다. CD44는 결핵균에 감염되면 활성 T 세포에서 발현되며 림프구 이동을 조절한다. 또한 CD44는 ECM에 대한 백혈구의 부착을 매개하여 대식세포, CD4+ T cell 등을 폐로 불러모으는 역할을 한다. 따라서, CD44 유전자의 다형성은 결핵균에 대한 숙주세포의 면역기전 저하를 유발할 수 있다. 이 연구의 목적은 CD44 유전자의 유전자 다형성이 결핵의 감수성에 영향을 미치는지 조사하는 것이다. 결핵균과 CD44의 연관성에 대하여 대한 한국 협회 자원의 443명의 cases와 3228명의 control을 이용하여 CD44 유전자의 237개의 SNP를 분석하였다. 이 중 17개의 SNP가 결핵과 통계적으로 유의한 관련성을 보였다. 가장 유의성 있는 SNP는 rs75137824였다(OR=0.231, CI: 1.51~3.56, $P=1.3{\times}10^{-4}$). 또한 결핵 발병에 유의성이 있는 SNP중 rs10488809의 경우는 전사인자 JUND 및 FOS에 결합하는 부위로써 CD44 유전자 발현에 영향을 줄 수 있는 것으로 확인할 수 있었다. 이러한 결과는 결핵 발병이 CD44 발현 차이에 의한 숙주 면역반응에 차이에 의해서 감수성의 차이가 있을 수 있음을 나타 낼 수 있다. 이번 연구 결과는 결핵균 감염에 대한 숙주면역의 유전적 차이가 결핵 진행정도의 차이를 유발할 수 있다는 유전적 배경에 대한 기반을 마련해 줄 수 있을 것이라고 기대한다.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.89-93
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• 2008

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the $21^{st}$ century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.

• 과학기술학연구
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• 제3권1호
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• pp.41-73
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• 2003

최근 생명공학의 발전에 따라 배아복제나 유전자 정보은행 등과 관련된 주제를 둘러싸고 많은 논란이 야기되고 있는 상황이다. 특히 인간게놈프로젝트의 진전에 힘입어 범죄수사를 위한 개인식별이나 질병 진단 및 검사뿐만 아니라 각종 비의료적 검사에 이르기까지 유전자 검사가 현재 무분별하게 확산되는 추세이다. 문제는, 개인의 유전정보는 사회적으로 매우 민감한 성격을 지님에도 불구하고 이러한 유전자 검사의 확산은 필연적으로 유전자 프라이버시의 침해를 가져올 가능성을 높여준다는 데 있다. 이처럼 유전정보 보호에 대한 사회적 관심이 제고되고 있는 상황에서, 유전정보 보호를 둘러싼 사회적 논의과정에 일반 시민들이 직접 참여할 수 있는 제도적 틀을 만들어 제공하는 것이 그 어느 때보다 절실하게 요구되고 있다. 이러한 문제의식에 입각하여, 이 글에서는 먼저 인간 유전정보의 이용을 둘러싼 사회적 쟁점을 개인식별, 질병 진단 및 검사, 그리고 비의료적 검사의 세 측면에서 살펴보고, 이어 생명공학 분야에서 국내 외에서 시행되었던 다양한 시민참여의 경험들에 대한 검토를 거친 다음에, 향후 우리나라 정부가 유전정보 보호정책의 입안과 관련하여 취해야 할 바람직한 시민참여 방안을 모색해 본다.