• Genomics & Informatics
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• v.16 no.2
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• pp.36-41
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• 2018

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

• Tuberculosis and Respiratory Diseases
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• v.55 no.1
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• pp.88-97
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• 2003

Background : Although smoking is a major cause of chronic obstructive pulmonary disease (COPD), only 10-20% of cigarette smokers develop symptomatic COPD, which suggests the presence of genetic susceptibility. This genetic susceptibility to COPD might depend on variations in the activities of the enzyme that detoxify hazardous chemical products, such as microsomal epoxide hydrolase (mEPHX) and glutathione-S transferase M1 subunit (GSTM1) genes. Methods : The genotypes of 58 patients with COPD, and 79 age matched control subjects, were determined by a polymerase chain reaction, followed by restriction fragment length polymorphism (PCR-RFLP) for the mEPHX, and multiplex PCR for the GSTM1. Results : GSTM1 was deleted in 53.3% of the subjects. There was no difference in GSTM1 deletion rates between the COPD patients (32/58, 55.2%) and the control subjects (41/79, 51.9%). The combination patterns of two polymorphisms of mEPHX showed slow enzyme activity in 29(21.2%), normal in 73(53.3%) and fast in 32(23.4%). The COPD group (7/57, 12.3%) showed a significantly lower incidence of slow enzyme activity compared to the control subjects (22/77, 28.6%, p<0.05). However, when the COPD and control groups were compared with smokers only, there were no significant differences in the genotypes of GSTM1 and mEPHX. Conclusion : The genotypes of GSTM1 and mEPHX were not significant risk factors of COPD in this cohort of study.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.61-67
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• 2009

Purpose : The rate of drug-resistant tuberculosis (DR-TB) in children is an indicator of the effectiveness of TB control programs in the community. This study aimed to assess the prevalence of DR-TB in children and evaluate TB management. Methods : Between January 1999 and July 2007, drug susceptibility tests for anti-TB drugs were employed for patients aged less than 19 years with culture-positive TB. Results : A total of 607 cases (16.6%) were resistant to at least one anti-TB drug as follows: isoniazid (INH; 13.8%), rifampin (8.9%), pyrazinamide (4.2%), streptomycin (3.7%), ethambutol (EMB; 5.9%), and para-aminosalicylic acid (PAS; 1.9%). Multidrug-resistant (MDR) TB was found in 276 cases (7.6%); extensive drug resistant (XDR) TB, in 5 cases (0.2%). The rate of resistance to at least one anti-TB drug in children aged >15 years (16.1%) was significantly lower than that in children aged <15 years (20.5%) (P=0.016). The rate of resistance to at least one anti-TB drug and multidrug-resistance in this survey decreased significantly (P<0.001) as compared to the previous survey (1987-1995). The rate of resistance to INH, EMB, and PAS also significantly decreased (P<0.05). Conclusion : The rate of DR-TB in children in Korea has decreased over time; however, it remains higher than that in other countries. MDR-TB and XDR-TB are the emerging problems in Korean children. Therefore, the selection of effective drugs through drug susceptibility tests and evaluating risk factors of resistant TB is essential to successful therapy and a decreased incidence of DR-TB.

• Pediatric Infection and Vaccine
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• v.20 no.3
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• pp.147-160
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• 2013

Purpose: Although the overall incidence of hepatitis A in Korea has been decreasing recently, the adolescents born before the introduction of the hepatitis A vaccine remain to be highly vulnerable to outbreak. This study examines the unvaccinated adolescents' and their parents' knowledge and health beliefs toward hepatitis A vaccination. Methods: Healthy adolescents aged 13-19 years old who had no previous history of hepatitis A vaccine and hepatitis A infection, and their parents or legal guardians were the subjects of the study. The survey was conducted using a structured questionnaire based on the Health Belief Model, and examined the subjects' demographics, knowledge, and health beliefs (i.e., perceived susceptibility, severity, benefits, and barriers). Results: We included 157 adolescents and their parents/guardians (mean age: $16.0{\pm}1.6$ and $45.6{\pm}4.7$ years, respectively). The average knowledge item score for adolescents and parents was $6.4{\pm}3.7$ and $7.3{\pm}3.4$ (out of 18), respectively. Similarly, average Health Belief Model item scores were: susceptibility, $5.6{\pm}1.6$ and $5.9{\pm}1.7$ (range: 2-10); severity, $16.3{\pm}4.1$ and $18.3{\pm}3.6$ (range:5-25); benefits, $19.7{\pm}3.3$ and $20.6{\pm}2.1$ (range:5-25); and barriers, $41.3{\pm}8.9$ and $39.0{\pm}9.1$ (range:7-85). The major reason for not undergoing hepatitis A vaccination was lack of knowledge about its importance. Conclusions: Refresher health lectures about hepatitis A and the vaccine are needed by both the adolescents and their parents. Furthermore, the inclusion of hepatitis A vaccine in the national immunization program should be considered to reduce the risk of hepatitis A outbreak and to raise the vaccination coverage among the adolescents in Korea.

• Toxicological Research
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• v.32 no.3
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• pp.195-205
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• 2016

This study was performed to select single nucleotide polymorphisms (SNPs) related to the body burden of heavy metals in Koreans, to provide Korean allele frequencies of selected SNPs, and to assess the difference in allele frequencies with other ethnicities. The candidate-gene approach method and genome-wide association screening were used to select SNPs related to the body burden of heavy metals. Genotyping analysis of the final 192 SNPs selected was performed on 1,483 subjects using the VeraCode Goldengate assay. Allele frequencies differences and genetic differentiations between the Korean population and Chinese (CHB), Japanese (JPT), Caucasian (CEU), and African (YIR) populations were tested by Fisher's exact test and fixation index ($F_{ST}$), respectively. The Korean population was genetically similar to the CHB and JPT populations ($F_{ST}$ < 0.05, for all SNPs in both populations). However, a significant difference in the allele frequencies between the Korean and CEU and YIR populations were observed in 99 SNPs (60.7%) and 120 SNPs (73.6%), respectively. Ten (6.1%) and 26 (16.0%) SNPs had genetic differentiation ($F_{ST}$ > 0.05) among the Korean-CEU and Korean-YIR comparisons, respectively. The SNP with the largest $F_{ST}$ value between the Korean and African populations was cystathionine-${\beta}$-synthase rs234709 ($F_{ST}$: KOR-YIR, 0.309; KOR-CEU, 0.064). Our study suggests that interethnic differences exist in SNPs associated with heavy metals of Koreans, and it should be considered in future studies that address ethnic differences in heavy-metal concentrations in the body and genetic susceptibility to the body burden of heavy metals.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.16
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• pp.7211-7217
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• 2015

Background: The aims of this study were to evaluate the diagnostic and prognostic roles of serum osteopontin (OPN) and single nucleotide polymorphisms (SNPs) in the OPN promoter in patients with hepatitis B-related hepatocellular carcinoma (HCC). Materials and Methods: Four groups were studied, which included 157 patients with HCC, 73 with liver cirrhosis (LC) and 97 with chronic hepatitis (CH), along with 80 healthy subjects. Serum OPN and alpha-fetoprotein (AFP) levels were measured. The SNPs -66 T/G, -156 G/${\Delta}G$ and -433 C/T within the OPN promoter were determined by direct sequencing. Results: Serum OPN levels were significantly higher in patients with HCC than in the other groups. Area under receiver operating characteristics curves in distinguishing HCC from chronic liver disease (CLD; CH and LC) were 0.782 (95% CI; 0.729-0.834) for OPN and 0.888 (95% CI; 0.850-0.927) for AFP. Using the optimal cut-off value (70 ng/mL), OPN had sensitivity and specificity of 72% and 71%, respectively. Serum OPN was superior to AFP in detecting early-stage HCC (68% vs. 46%). A combination of both markers yielded an improved sensitivity for detecting early HCC to 82%. A high OPN level was significantly correlated with advanced BCLC stage and was an independent prognostic factor for HCC. The SNPs -156 and -443 were associated with susceptibility to HCC, but were not related to overall survival. Conclusions: Serum OPN is a useful diagnostic and prognostic marker for HCC. The combined use of serum OPN and AFP improved the diagnosis of early HCC. Genetic variation in the OPN promoter is associated with the risk, but not the prognosis of HCC.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.5
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• pp.2549-2554
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• 2016

Background: Early detection remains the cornerstone of breast cancer control in terms of outcome and survival. Thus far the only breast cancer screening method proven effective is mammography. The awareness of female health care workers (HCW) about breast cancer prevention is of vital importance, as their beliefs and behavior may have a major impact on other women. This study was designed to assess mammography screening uptake among female healthcare workers at primary healthcare centers, and to identify the primary motivators and barriers that affect uptake results. Materials and Methods: A cross sectional study design was used to assess mammography screening by 299 female healthcare workers who completed a self-administered questionnaire that assessed demographics, screening uptake, motivators and barriers. Results: The mean age was 46 years (within age of risk). The majority (95.1%) demonstrated adequate knowledge about breast cancer and mammography screening and 50% of the participants reported having at least one mammogram; however only 21% of them had regularly scheduled mammograms. The most frequent reported motivator was the perceived benefit that early detection of breast cancer is important for its management (89.6%), followed by the belief that mammography can detect breast cancer before its symptoms appear (84.4%). On the other hand, the most frequent barrier reported was being busy (46.7%), followed by the lack of perceived susceptibility (41.5%). Conclusions: Mammography screening was found to be sub-optimal in a population of HCW's with 50 % stating that they received a mammogram at least once, and a minority reported regular screening. There is a pressing need for educational programs aimed at removing the barriers that limit compliance with recommendations for mammography screening, and to emphasize the importance of early detection in breast cancer treatment. Ensuring the availability and accessibility of screening services, particularly for healthcare workers within their work settings are other important factors that would improve the acceptance and compliance for mammography screening programs.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.5
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• pp.2491-2497
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• 2016

Background: Human leukocyte antigen (HLA) genes have been implicated in cervical cancer in several populations. Objectives: To study the predispositions of HLA alleles/haplotypes with cervical cancer. Materials and Methods: Clinically diagnosed and PAP smear confirmed cervical cancer patients (n 48) and age matched controls (n 47) were genotyped for HLA-A,-B,-DRB1* and DQB1* alleles by PCR-SSP methods. Results: The frequencies of alleles DRB1*04 (OR=2.57), DRB1*15 (OR=2.04), DQB1*0301 (OR=4.91), DQB1*0601 (OR=2.21), B*15 (OR=13.03) and B*07 (OR=6.23) were higher in cervical cancer patients than in the controls. The frequencies of alleles DRB1*10 (OR=0.22) and B*35 (OR=0.19) were decreased. Strong disease associations were observed for haplotypes DRB1*15-DQB1*0601 (OR=6.56; p< $3.5{\times}10^{-4}$), DRB1*14-DQB1*0501 (OR=6.51; p<0.039) and A*11-B*07 (OR=3.95; p<0.005). The reduced frequencies of haplotypes DRB1*10-DQB1*0501 (OR=0.45), A*03-B*35 (OR=0.25) and A*11-B*35 (OR= 0.06) among patients suggested a protective association. HLA-C* typing of 8 patients who possessed a unique three locus haplotype 'A*11-B*07-DRB1*04' (8/48; 16.66%; OR=6.51; p<0.039) revealed the presence of a four locus haplotype 'A*11-B*07-C*01-DRB1*04' in patients (4/8; 50%). Amino acid variation analysis of susceptible allele DQB1*0601 suggested 'tyrosine' at positions ${\beta}9$ and ${\beta}37$ and tyrosine-non-tyrosine genotype combination increased the risk of cervical cancer. Conclusions: Strong susceptible associations were documented for HLA alleles B*15, B*07, DRB1*04, DRB1*15, DQB1*0301, DQB1*0601 and haplotypes DRB1*15-DQB1*0601 and DRB1*14-DQB1*0501. Further, protective associations were evidenced for alleles B*35 and DRB1*10 and haplotypes A*11-B*35 and DRB1*10-DQB1*0501 with cervical cancer in South India.

• Journal of Food Hygiene and Safety
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• v.33 no.4
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• pp.259-265
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• 2018

Since Korean housewives are responsible for the dietary practices of family at home, it is important to know what information will make them to buy safe food. This study was designed to determine the role of perceived threats, behavioral assessments, and self-efficacy factors known to promote healthy behavior in health belief models (HBM) based on food safety awareness and behavior of housewives. This study involved 191 housewives, based on key variables such as perceived severity, perceived susceptibility, perceived benefits, perceived barriers, self-efficacy, and purchase behavior. The results showed that higher levels of education and urbanization increased the threat perception and the likelihood of buying safe food. The correlation analysis showed that increased awareness and knowledge of safe foods and interest in health contributed to higher relative benefit or self-efficiency of food, and thus, ensured food safety. The conceptual model of food safety behavior based on the HBM was verified via structural equation analysis. The findings suggest that a suitable model showcasing knowledge levels and relative benefits resulted in a greater impact on purchasing behavior than perceived threats. This study suggests that it is more effective for housewives to provide more preventive information than risk information to purchase safe food.

• Tuberculosis and Respiratory Diseases
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• v.59 no.2
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• pp.157-163
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• 2005

목 적 : Myeloperoxidase (MPO)는 benzo(a)pyrene, aromatic amines과 같은 발암전구물질 활성화를 통해 폐암 발생에 관여한다. MPO 유전자 promoter 부위의 -463G>A 다형성은 MPO유전자의 발현량을 감소시킨다고 알려져 있다. 저자들은 MPO 유전자 promoter 부위의 -463G>A 다형성과 폐암 위험도의 상관 관계를 조사하였다. 방 법 : 경북대학교병원에서 폐암으로 진단된 432예를 대상으로 하였으며 대조군은 건강검진센타를 방문한 건강인 가운데 환자군과 연령 및 성을 match하여 무작위로 선택한 432명을 대상으로 하였다. 결 과 : MPO -463G>A의 유전자형은 폐암군의 경우 GG, GA, AA형이 각각 353명(81.7%), 76명(17.6%), 3명(0.7%)이였고 대조군의 경우 각각 356명(82.4%), 72명(16.7%), 4명(0.9%)으로 두 군간에 유의한 차이가 없었다. -463 AA+GA 유전자형은 -463 GG 유전자형에 비해 전체 폐암의 경우 위험도의 유의한 차이가 없었으며 (adjusted OR= 1.03, 95% CI= 0.72-1.47), 연령, 성별, 흡연력, 조직형으로 구분하였을 경우에도 유의한 차이가 없었다. 결 론 : MPO 유전자의 -463G>A 다형성은 한국인에서 폐암의 위험도를 결정하는 주요 인자가 아닌 것으로 생각된다.