• Genomics & Informatics
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• v.7 no.4
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• pp.195-202
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• 2009

BIRC5 (Survivin) belongs to the inhibitor of apoptosis gene family. The BIRC5 protein inhibits caspases and consequently blocks apoptosis. Thus, BIRC5 contributes to the progression of cancer allowing for continued cell proliferation and survival. In this study, we identified eight sequence variants of BIRC5 through direct DNA sequencing. Among the eight single nucleotide polymorphisms (SNPs), six common variants with frequencies higher than 0.05 were selected for larger-scale genotyping (n=1,066). Results of the study did not show any association between the promoter region polymorphisms and the clearance of hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) occurrence. This is in line with a previous study in which polymorphisms in the promoter region does not influence the function of BIRC5. Initially, we were able to detect a signal with the ＋9194A>G, which disappeared after multiple corrections but led to a change in amino acid. Similarly, we were also able to detect an association signal between two haplotypes (haplotype-2 and haplotype-5) on the onset age of HCC and/or HCC occurrence, but the signals also disappeared after multiple corrections. As a result, we concluded that there was no association between BIRC5 polymorphisms and the clearance HBV infection and/or HCC occurrence. However, our results might useful to future studies.

• Genomics & Informatics
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• v.14 no.2
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• pp.62-68
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• 2016

Osteoporosis is a medical condition of global concern, with increasing incidence in both sexes. Bone mineral density (BMD), a highly heritable trait, has been proven a useful diagnostic factor in predicting fracture. Because medical information is lacking about male osteoporotic genetics, we conducted a genome-wide association study of BMD in Korean men. With 1,176 participants, we analyzed 4,414,664 single nucleotide polymorphisms (SNPs) after genomic imputation, and identified five SNPs and three loci correlated with bone density and strength. Multivariate linear regression models were applied to adjust for age and body mass index interference. Rs17124500 ($p=6.42{\times}10^{-7}$), rs34594869 ($p=6.53{\times}10^{-7}$) and rs17124504 ($p=6.53{\times}10^{-7}$) in 14q31.3 and rs140155614 ($p=8.64{\times}10^{-7}$) in 15q25.1 were significantly associated with lumbar spine BMD (LS-BMD), while rs111822233 ($p=6.35{\times}10^{-7}$) was linked with the femur total BMD (FT-BMD). Additionally, we analyzed the relationship between BMD and five genes previously identified in Korean men. Rs61382873 (p = 0.0009) in LRP5, rs9567003 (p = 0.0033) in TNFSF11 and rs9935828 (p = 0.0248) in FOXL1 were observed for LS-BMD. Furthermore, rs33997547 (p = 0.0057) in ZBTB and rs1664496 (p = 0.0012) in MEF2C were found to influence FT-BMD and rs61769193 (p = 0.0114) in ZBTB to influence femur neck BMD. We identified five SNPs and three genomic regions, associated with BMD. The significance of our results lies in the discovery of new loci, while also affirming a previously significant locus, as potential osteoporotic factors in the Korean male population.

• Genomics & Informatics
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• v.11 no.2
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• pp.83-92
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• 2013

Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest ($h^2$ = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.17 no.11
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• pp.94-103
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• 2016

This study was conducted to investigate the association of serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) with all-cause mortality among populations. The data used were from a Korean Genome and Epidemiology Study (KoGES) based on health examinations and questionnaires. The subjects consisted of 10,110 persons aged 40 and over. Hazard ratio was analyzed using Cox's proportional hazard model. The hazard ratio of AST (${\geq}50.0\;IU/L$) was 2.198 (95% CI: 1.217-3.971) after being adjusted for age, sex, education, regular exercise, smoking, drinking, WHR, and TG. In conclusion, AST was an independent significant risk factor of all-cause mortality, and ALT showed a tendency to increase. Overall, these findings indicate that AST and ALT may be useful tools for predicting mortality.

• Nutrition Research and Practice
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• v.17 no.4
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• pp.789-802
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• 2023

BACKGROUND/OBJECTIVES: Habitual coffee consumption was inversely associated with type 2 diabetes (T2D) and hyperglycemia in observational studies, but the causality of the association remains uncertain. This study tested a causal association of genetically predicted coffee consumption with T2D using the Mendelian randomization (MR) method. SUBJECTS/METHODS: We used five single-nucleotide polymorphisms (SNPs) as instrumental variables (IVs) associated with habitual coffee consumption in a previous genome-wide association study among Koreans. We analyzed the associations between IVs and T2D, fasting blood glucose (FBG), 2h-postprandial glucose (2h-PG), and glycated haemoglobin (HbA1C) levels. The MR results were further evaluated by standard sensitivity tests for possible pleiotropism. RESULTS: MR analysis revealed that increased genetically predicted coffee consumption was associated with a reduced prevalence of T2D; ORs per one-unit increment of log-transformed cup per day of coffee consumption ranged from 0.75 (0.62-0.90) for the weighted mode-based method to 0.79 (0.62-0.99) for Wald ratio estimator. We also used the inverse-variance-weighted method, weighted median-based method, MR-Egger method, and MR-PRESSO method. Similarly, genetically predicted coffee consumption was inversely associated with FBG and 2h-PG levels but not with HbA1c. Sensitivity measures gave similar results without evidence of pleiotropy. CONCLUSIONS: A genetic predisposition to habitual coffee consumption was inversely associated with T2D prevalence and lower levels of FBG and 2h-PG profiles. Our study warrants further exploration.

• Journal of Korean Biological Nursing Science
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• v.20 no.2
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• pp.84-91
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• 2018

Purpose: The purpose of this study was to construct and test a structural equation model to investigate the risk factors of metabolic syndrome in rural women. Methods: The raw data in this study was collected from the Korean Genome and Epidemiology Study supervised by the Korea Centers for Disease Control and Prevention from 2005 to 2010. The data included physical examinations and surveys of 1,125 women, who resided in three rural areas of South Korea. The structural model in this study was composed of five latent variables: depression, stress, social support, health behavior, and metabolic syndrome. The structural equation model was used to assess the relationships among the variables. Results: The results of the study showed that depression and stress had direct effects on metabolic syndrome. Social support had a direct effect on health behavior and metabolic syndrome. Also, health behavior had a direct effect on metabolic syndrome. Conclusion: This study may serve as a guideline for interventions and strategies used to reduce metabolic syndrome in rural women.

• Journal of Korean Academy of Nursing
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• v.49 no.6
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• pp.713-723
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• 2019

Purpose: The purpose of this study was to identify the impact of cigarette smoking and alcohol consumption on the incidence of colon cancer in adults with metabolic syndrome. Methods: This study employed a longitudinal study design and utilized secondary data drawn from the Korean Genome and Epidemiology Study (KoGES). The data of a sample of 2,327 adults with metabolic syndrome tracked every two years from 2001 to 2014 were used in this study. Statistical data analyses of the frequency, number of cases per 100,000 person-years, log-rank test, Kaplan-Meier curve, and Cox's proportional hazards regression were performed using IBM SPSS statistics version 24. Results: During the observation period, the number of colon cancer cases was 46, and the total person-years were 252,444. The incidence of colon cancer was higher in current, over 10 pack-year smokers when compared to non-smokers (hazard ratio=3.38, 95% confidence interval=1.09~8.42). Conclusion: Excessive and long-term smoking should be avoided to prevent colon cancer, especially in adults with metabolic syndrome, since it might exacerbate the risk factors of colon cancer. Particularly, health professionals need to provide individualized smoking cessation interventions to those at high risk of colon cancer.

• Genomics & Informatics
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• v.7 no.4
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• pp.187-194
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• 2009

Cytochrome P450 2E1 (CYP2E1) is a member of the cytochrome P450 superfamily, and it is a key enzyme responsible for the metabolic activation of many smallmolecular-weight compounds such as alcohol, which is classified as a human carcinogen. In this study, we identified 19 single nucleotide polymorphisms (SNPs) in CYP2E1 in Korean population. In these SNPs, we examined possible genetic association of CYP2E1 polymorphisms with HBV clearance and the risk of hepatocellular carcinoma (HCC). Five common polymorphic sites were selected, CYP2E1 polymorphisms at rs381-3867, rs3813870, rs2070673, rs2515641 and rs2480257, considering their allele frequencies, haplotype-tagging status and LDs for genotyping in larger-scale subjects (n=1,092). Statistical analysis demonstrated that CYP2E1 polymorphisms and haplotypes show no significant association with HBV clearance, HCC occurrence and onset age of HCC (p>0.05). Previous studies, however, have shown contradictory findings on associations of CYP2E1 polymorphisms with CYP2E1 activities and HCC risk. Comparing the contrasting results of previous researches suggest that CYP2E1 polymorphism is associated with CYP2E1 activity induced by ethanol, but is not directly associated with HCC risk. CYP2E1 variation/haploype information identified in this study will provide valuable information for future studies on CYP2E1.

• Genomics & Informatics
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• v.8 no.1
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• pp.1-8
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• 2010

Serpin peptidase inhibitor, Clade B (ovalbumin), Member 5 (SERPINB5), also known as maspin, is a potent tumor suppressor gene. It has correlations with many tumor cells, from pancreas cancer to breast cancer, so it is possible that it may also affect liver cancer. There has also been a report that SERPINB12, a gene placed right next to SERPINB5, is expressed in liver. For this study, 32 polymorphisms were identified in SERPINB5 by direct DNA sequencing, and 11 of them were selected to be tested with a larger scale subjects. The association of the 11 SERPINB5 polymorphisms with Hepatitis B virus (HBV) clearance, hepatocellular carcinoma (HCC) occurrence and the onset age of HCC were analyzed. There were no significant associations found between 11 SERPINB5 polymorphisms and HBV clearance. In the case of HCC occurrence, one of the haplotypes (ht) showed association with HCC occurrence (OR=2.26, p=0.005, $P^{Cor}=0.05$), albeit with a low statistical power (40.8%) and haplotype frequency (0.052). Further study with a bigger sample size will be needed to clearly verify the association between ht5 and HCC occurrence.

• Journal of the East Asian Society of Dietary Life
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• v.25 no.3
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• pp.432-439
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• 2015

This study was conducted to assess joint effect of body mass index (BMI) and physical activity with risk of hypertension in middle-aged Koreans. The effects of BMI and physical activity on risk of hypertension were studied using data set of 10,020 subjects aged 40~69 years in a Korean Genome and Epidemiology Study (KoGES). About 31.8% of men and 30.2% of women had hypertension. Higher BMI was associated with increased risk of hypertension in men and women. However, diverse association of physical activity with hypertension was only detected in women. Inactive women with a BMI${\geq}25$ were more likely to have hypertension than active women with a BMI<23 (ORs=3.96, 95% CI; 2.77~5.67). The present study indicates that regular physical activity and weight control can reduce risk of hypertension in Korean middle-aged women.