• Asian Pacific Journal of Cancer Prevention
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• v.15 no.2
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• pp.957-961
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• 2014

Purpose: With regard to the protective effect of vitamin D against colorectal cancer (CRC), we evaluated genetic variants that might influence vitamin D metabolism: vitamin D receptor (VDR), vitamin D binding protein (GC), vitamin D 25-hydroxylase (CYP2R1), and vitamin D 25-hydroxy 1-alpha hydroxylase (CYP27B1). Materials and Methods: A total of 657 subjects, including 303 cases with CRC and 354 controls were enrolled in this case-control study. All 657 were genotyped for the four gene variants using PCR-RFLP methods. Results: In this study, no significant difference was observed for VDR (rs2238136), GC (rs4588), CYP2R1 (rs12794714), and CYP27B1 (rs3782130) gene variants in either genotype or allele frequencies between the cases with CRC and the controls and this lack of difference remained even after adjustment for age, BMI, sex, smoking status, NSAID use, and family history of CRC. Furthermore, no evidence for effect modification of the variants and CRC by BMI, sex, or tumor site was observed. Conclusions: Our findings do not support a role for VDR, GC, and CYP27B1 genes in CRC risk in our Iranian population. Another interesting finding, which to our knowledge has not been reported previously, was the lack of association with the CYP2R1 gene polymorphism. Nonetheless, our findings require confirmation and possible roles of vitamin D metabolism-related genes in carcinogenesis need to be further investigated.

• Korean Journal of Clinical Laboratory Science
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• v.49 no.4
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• pp.345-349
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• 2017

Diabetes mellitus is associated with a variety of adverse health outcomes, including metabolic syndrome and cardiovascular diseases. Recently, diabetes has been receiving increased scientific attention because of the rapid increase in the diabetic population. One of the features of type-2 diabetes mellitus is an elevated glucose level in blood. Fasting glucose level, which is the most basic test, is widely used as a diagnostic indicator of diabetes. Several previous studies reported that TLR4 expression is relatively high in the heart. However, few studies have investigated the association between TLR4 variants and fasting blood glucose to date. Thus, this study tested the association between single nucleotide polymorphisms (SNPs) in the TLR4 gene and fasting glucose in the Korean population. A total of 994 subjects recruited from Seoul were used for the present study. When compared to fasting blood glucose, the TLR4 gene region was shown as a linkage disequilibrium owing to the relatively large gene range. This region also presented as several LD blocks. We found that specific SNPs in the TLR4 gene were associated with the mean fasting glucose (p<0.01). The minor allele frequency of rs1329067 was 16.4%, and individuals with the AA genotype had a higher fasting blood glucose level than those with the GG genotype, suggesting that genetic variants in TLR4 influence glucose levels in Korean adults.

• Korean Journal of Clinical Laboratory Science
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• v.52 no.1
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• pp.45-52
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• 2020

Hypertension often leads to cardiovascular disease and kidney disease, and hypertention is an important worldwide problem. Body mass index (BMI) has an important role for raising blood pressure. Further, hypertension can be affected by both environmental factors and genetic factors. Many single nucleotide polymorphisms have been associated with hypertension. Genome wide association study (GWAS) is a method of confirming a new locus of increasing the risk of disease, and GWAS has confirmed several single nucleotide polymorphisms (SNPs) that are associated with high blood pressure. This study analyzed the relationship between systolic blood pressure, diastolic blood pressure and SNP of the ATP2B1 gene in 994 Koreans. SNPs that showed the highest statistical significance with systolic and diastolic blood pressures were selected on the multiple linear regression analysis. One-way analysis of variance for systolic and diastolic blood pressures was performed, and multiple logistic regression analysis was performed on the risk of hypertension. The P values were two-tailed, and P<0.05 was considered significant. Four SNPs were associated with systolic blood pressure and six SNPs were associated with diastolic blood pressure. In addition, a genotype-based analysis showed significant odds ratios for the risk of hypertension in older men (adjusted OR, 5.743; 95% CI, 1.173~28.121; P=0.031). This study suggests that the ATP2B1 variants affect both the systolic and diastolic blood pressure.

• Journal of Life Science
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• v.26 no.9
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• pp.999-1006
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• 2016

This paper studies an infection of norovirus and astrovirus in outbreaks in Korea. In March 2016, gastroenteritis outbreaks occurred in Busan. 522 students of three departments at university D had meeting at a restaurant near the university. Some of them had symptom such as diarrhea, vomiting. Epidemiological, laboratory and environmental investigations were performed to identify the agents of the outbreaks. Fecal specimens were collected from 35 students and 7 food handlers to identify causative viral agents. Norovirus genogroup GI and GII were detected from diarrhea patients. Astrovirus was also detected from some of them. In particular, these outbreaks were the first occurrence associated with astrovirus in Busan. Total of 42 samples were collected, and 24 samples resulted in positive to norovirus (16 cases) and astrovirus (8 cases). To identify the molecular genetic information of norovirus, we carried out sequences analysis of the detected strains. Norovirus genotypes were classified into GI.3, GI.4, GII.4, GII.13, GII.17 and GII.21. Astrovirus genotypes were seven astrovirus type 5 and one astrovirus type 2. We performed environmental investigation about water at the kitchen, but norovirus and astrovirus were not detected. The statistical analysis was conducted to evaluate the association between illness and risk factors. The results of this study may contribute to accumulate more the epidemiological data and develop the public health and hygiene.

• Korean Journal of Microbiology
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• v.53 no.1
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• pp.1-8
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• 2017

Measles virus is a highly contagious, exanthematic virus, preventable by the use of an effective live-attenuated vaccine. However, measles virus remains endemic in many area of the world causing nearly 200,000 deaths per year and still a major cause of child mortality, mostly in developing countries. In March 2014, Republic of Korea was certified as a 'national measles elimination' by the WHO as a result of a high-quality case-based surveillance system and population immunity, which was achieved by a high vaccination rate (>95.0% since 1996). But, since the beginning of 2014, the Gyeonggi province has experienced a resurgence of measles cases. In this study, we investigated the characteristics of measles viruses isolated from confirmed measles in Gyeonggi province during January 1, 2014 ~ July 31, 2014, 60 isolates were obtained from 72 confirmed measles specimens. Genotypic distributions and genetic diversities of isolated measles virus were analyzed by sequencing of nucleoprotein (N) gene. 58 (96.7%) imported cases were identified. The predominant genotype was B3, which reflects the circulating measles virus in adjacent countries. The sequences of nucleoprotein (N) gene of isolated MeV were showed that the strains characterized showed the highest degree of identity (99%) with the Philippine related strains in 2013-2014. Therefore, infected traveler returning from the Philippines transmitted secondary infection in Korea.

• The korean journal of orthodontics
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• v.49 no.1
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• pp.3-11
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• 2019

Objective: The purpose of this study was to investigate the influence of heritability on the craniofacial soft tissue cephalometric characteristics of monozygotic (MZ) twins, dizygotic (DZ) twins, and their siblings (SIB). Methods: The samples comprised Korean adult twins and their siblings (mean age, 39.8 years; MZ group, n = 36 pairs; DZ group, n = 13 pairs of the same gender; and SIB group, n = 26 pairs of the same gender). Thirty cephalometric variables were measured to characterize facial profile, facial height, soft-tissue thickness, and projection of nose and lip. Falconer's method was used to calculate heritability (low heritability, $h^2$ < 0.2; high heritability, $h^2$ > 0.9). After principal components analysis (PCA) was performed to extract the models, we calculated the intraclass correlation coefficient (ICC) value and heritability of each component. Results: The MZ group exhibited higher ICC values for all cephalometric variables than DZ and SIB groups. Among cephalometric variables, the highest ${h^2}_{(MZ-DZ)}$ and ${h^2}_{(MZ-SIB)}$ values were observed for the nasolabial angle (NLA, 1.544 and 2.036), chin angle (1.342 and 1.112), soft tissue chin thickness (2.872 and 1.226), and upper lip thickness ratio (1.592 and 1.026). PCA derived eight components with 84.5% of a cumulative explanation. The components that exhibited higher values of ${h^2}_{(MZ-DZ)}$ and ${h^2}_{(MZ-SIB)}$ were PCA2, which includes facial convexity, NLA, and nose projection (1.026 and 0.972), and PCA7, which includes chin angle and soft tissue chin thickness (2.107 and 1.169). Conclusions: The nose and soft tissue chin were more influenced by genetic factors than other soft tissues.

• Journal of Nutrition and Health
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• v.57 no.2
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• pp.211-227
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• 2024

Introduction: Seaweed is a sustainable and underexplored source of bioactive compounds with potent anti-inflammatory activities. However, studies on the interaction between seaweed and genes on inflammation are limited. Purpose: We aimed to evaluate the relationships between seaweed consumption and the polygenic risk scores (PRS) and their interactions with high-sensitivity C-reactive protein (hs-CRP) levels. Methods: Information on seaweed consumption was collected using a food frequency questionnaire, which included laver, kelp, and sea mustard among the items consumed. A total of 31 hs-CRP-related single nucleotide polymorphisms (SNPs) were selected using genome-wide association studies and clumping analysis, and the individual PRS were calculated by weighting the effect size of each allele in the selected SNPs of 39,369 middle-aged (≥40 years) Koreans using the Korean Genome and Epidemiology Study (KoGES)-Health Examinees (HEXA) cohort data. To investigate the interaction between seaweed intake and the PRS on hs-CRP levels >1 mg/L, hazard ratios (HRs) and 95% confidence intervals (CIs) were assessed using multivariable Cox proportional hazards models. Results: During a mean follow-up period of 4.8 years, we recorded 436 patients with elevated hs-CRP levels. Women in the highest tertile of the PRS with the lowest quartile of seaweed intake had an increased incidence of elevated hs-CRP levels compared with women in the lowest tertile of the PRS with the lowest seaweed intake quartile (HR 2.34, 95% CI 1.23-4.45). No significant association was observed among the men. Conclusion: In conclusion, we identified a new interaction between the PRS, seaweed intake, and inflammation in Korean women, and this study suggests that the interaction between the identification of genetic predisposition and dietary seaweed intake may have an impact on determining the risk of developing hyperinflammation in the future.

• Journal of Life Science
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• v.26 no.8
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• pp.911-920
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• 2016

Norovirus is the most common causative agent of acute gastroenteritis. This study was carried out to investigate molecular epidemiology of norovirus infections from outbreaks in Busan from 2012 to 2015. Total of 581 stool specimens were collected from diarrhea patients in outbreaks in Busan, 71 samples were resulted in positive to norovirus. The data were analyzed according to seasonality, patient, age and gender. Noroviruses were detected most frequently during the winter season from November (25.4%) to February (28.2%). The age group from teens was the most susceptible to norovirus infections. To obtain the molecular genetic information of norovirus, we performed sequencing analyses of the strains detected. Norovirus genotypes have been reported to show high genetic diversity. Four kinds of GI genotypes (GI-1, GI-2, GI-3, GI-5) and five kinds of GII genotypes (GII-1, GII-4, GII-5, GII-6, GII-17) were indentified in outbreaks in Busan. Other previous studies have shown that GII-4 is the most predominant circulating in Korea and worldwide. The most prevalent norovirus genotypes of each year were GII-6 in 2012, GII-6 in 2013, GII-4 in 2014 and GII-6 in 2015. Except for 2014, GII-6 genotype was the most prevalent and predominant in Busan. We described the epidemiological analysis of the noroviruses in outbreaks in Busan. The result of this study will contribute to update the epidemiological data and improve hygiene and public health via sustainable surveillance.

• Journal of Life Science
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• v.14 no.6 s.67
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• pp.913-919
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• 2004

Mitochondrial DNA mutations have been reported in recent years in association with sensorineural hering loss. The purpose of this study is to identify the association between the noise-induced sensorineural hearing loss and the A to G mutation at nucleotide 3243, 1555, 7445 of mitochondrial DNA. Study subjects were established by history and chart review, and audiological and clinical data were obtained. Blood was sampled from 214 normal controls, 102 noise-induced hearing loss, and 28 sensorineural hearing loss. The DNA of these individuals were extracted, and mitochondrial DNA fragments were analyzed by polymerase chain reaction. Subsequently, the coding sequence of mitochondrial DNA 3243, 1555, 7445 were sequenced, and compared to the normal sequence, and all sequence variations were analyzed by restriction enzymes. Mitochondrial DNA mutations $(3243A{\rightarrow}G,\;1555A{\rightarrow}4G,\;7445A{\rightarrow}G)$ were not detected by polymerase chain reactions in any patients with noise-induced hearing loss, sensorineural hearing loss, and normal controls. The DNA sequencing of PCR products did not revealed an A to G substitution at nucleotide 3243, 1555, 7445 of mitochondrial DNA. The noise-induced sensorineural hearing loss was not associated with mitochondrial DNA mutation $(3243A{\rightarrow}G,\;1555A{\rightarrow}4G,\;7445A{\rightarrow}G)$.

• Korean Journal of Biological Psychiatry
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• v.21 no.3
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• pp.99-106
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• 2014

Objectives Previous studies suggest that the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. According to linkage studies, this gene is located on chromosome 6q14-q15, which is known to harbor the schizophrenia susceptibility locus (locus 5, SCZ5, OMIM 803175). The pharmacological agent delta-9-tetrahydrocannabinol (${\Delta}$-9-THC) seems to elicit the symptoms of schizophrenia. The association between CNR1 polymorphisms and schizophrenia is actively being investigated, and some studies have linked the AAT-trinucleotide repeats in CNR1 to the onset of schizophrenia. In this study, we have investigated the association between the AAT-trinucleotide repeats in CNR1 and schizophrenia by studying schizophrenia patients and healthy individuals from Korea. Methods DNA was extracted from the blood samples of 394 control subjects and 337 patients diagnosed with schizophrenia (as per the Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria). After polymerase chain reaction amplification, a logistic regression analysis, with age and gender as the covariates, was performed to study the variations in the AAT-repeat polymorphisms between the two groups. Results In total, 8 types of trinucleotide repeats were identified, each containing 7, 8, 10, 11, 12, 13, 14, and 15 repeats, respectively. $(AAT)_{13}$ allele was most frequently observed, with a frequency of 33.6% and 31.6% in the patient and control groups, respectively. The frequency of the other repeat alleles in the patient group (in the decreasing order) was as follows : $(AAT)_{13}$ 33.6%, $(AAT)_{14}$ 21.6%, $(AAT)_{12}$ 18.5%, and $(AAT)_{7}$ 11.1%. The frequency of the repeat alleles in the control group (in the decreasing order) was as follows : $(AAT)_{13}$ 31.6%, $(AAT)_{14}$ 24.5%, $(AAT)_{12}$ 17.2%, and $(AAT)_{7}$ 11.6%. However, there were no significant differences in the AAT-repeat polymorphisms of the CNR1 gene between the patient group and the control group. Conclusions Although our study revealed no significant association of the AAT-repeat polymorphism of the CNR1 gene with schizophrenia, it will serve as a good reference for future studies designed to examine the cannabinoid hypothesis of schizophrenia.