• Asian Pacific Journal of Cancer Prevention
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• v.14 no.11
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• pp.6403-6409
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• 2013

Purpose: Biallelic germline variants of the 8-hydroxyguanine (8-OG) repair gene MYH have been associated with colorectal neoplasms that display somatic $G:C{\rightarrow}T:A$ transversions. However, the effect of single germline variants has not been widely studied, prompting the present investigation of monoallelic MYH variants and susceptibility to sporadic colorectal cancer (CRC) in a Chinese population. Patients and Methods: Between January 2006 and December 2012, 400 cases of sporadic CRC and 600 age- and sex-matched normal blood donors were screened randomly for 7 potentially pathogenic germline MYH exons using genetic testing technology. Variants of heterozygosity at the MYH locus were assessed in both sporadic cancer patients and healthy controls. Univariate and multivariate analyses were performed to determine risk factors for cancer onset. Results: Five monoallelic single nucleotide polymorphisms (SNPs) were identified in the 7 exon regions of MYH, which were detected in 75 (18.75%) of 400 CRC patients as well as 42 (7%) of 600 normal controls. The region of exon 1 proved to be a linked polymorphic region for the first time, a triple linked variant including exon 1-316 $G{\rightarrow}A$, exon 1-292 $G{\rightarrow}A$ and intron 1+11 $C{\rightarrow}T$, being identified in 13 CRC patients and 2 normal blood donors. A variant of base replacement, intron 10-2 $A{\rightarrow}G$, was identified in the exon 10 region in 21 cases and 7 controls, while a similar type of variant in the exon 13 region, intron 13+12 $C{\rightarrow}T$, was identified in 8 cases and 6 controls. Not the only but a newly missense variant in the present study, p. V463E (Exon 14+74 $T{\rightarrow}A$), was identified in exon 14 in 6 patients and 1 normal control. In exon 16, nt. 1678-80 del GTT with loss of heterozygosity (LOH) was identified in 27 CRC cases and 26 controls. There was no Y165C in exon 7 or G382D in exon 14, the hot-spot variants which have been reported most frequently in Caucasian studies. After univariate analysis and multivariate analysis, the linked variant in exon 1 region (p=0.002), intron 10-2 $A{\rightarrow}G$ (p=0.004) and p. V463E (p=0.036) in the MYH gene were selected as 3 independent risk factors for CRC. Conclusions: According to these results, the linked variant in Exon 1 region, Intron 10-2 $A{\rightarrow}G$ of base replacement and p. V463E of missense variant, the 3 heterozygosity variants of MYH gene in a Chinese population, may relate to the susceptibility to sporadic CRC. Lack of the hot-spot variants of Caucasians in the present study may due to the ethnic difference in MYH gene.

• Genomics & Informatics
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• v.9 no.2
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• pp.52-58
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• 2011

Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genome-wide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=$1.27{\times}10^{-6}$) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.

• Journal of the Korean Society of School Health
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• v.11 no.2
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• pp.171-187
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• 1998

In recent years, adolescent issues including smoking, drinking, drug abuse, juvenile delinquency, deviant sexual behavior, mental health problems, high suicide rate, juvenile delinquency and absence without due notice, etc are emerging as serious social problems and the debate on these controversial issues is heating up. The previous studies on adolescent health behavior and social juvenile delinquency such as run-away from home and absence without due notice have been conducted mostly by cause analysis utilizing social demographic factors or biological factors. In other words, the main factors analyzed were demographic and economic factors or parent's educational level, etc, which were the fixed environmental ones that were unable to cause the change in the health behavior. Accordingly, the purpose of this study is to analyze factors which are changeable and fixable among the factors influencing the adolescent's health behavior and misconducts and, eventually influencing factors which can be used as the basis to establish health policies and health promotion program to reduce the health risk behavior and misconducts of adolescents. The study subjects were selected by dividing senior high school student in Seoul by region and through random sampling. The 890 subjects were selected from 10 schools including the preparatory school, vocational schools and institutional schools. The duration of the study was for July 1-5, 1997 for the first survey and the second one, for August 25-September 10. Regarding the analysis method, the SAS program was used. The adoptablity of theoretical model was tested through covariance structural analysis utilizing PC-LISREL 8.12 Program. The major findings of the study are as follows: As a result of establishing the model of factors influencing health behavior and juvenile delinquency, in case of male students as the health behavior self-efficacy, education level of fathers, economic level, self-control and the health interest of parent were higher, students were more likely to practice the health promoting behavior. Juvenile delinquency and health risk behavior were prevalent among those with the less shyness, the lower health behavior self-efficacy, lower self-control, lower self-assertiveness, lower economic level. The self-control was the most powerful factor. In case of female students, those with higher health behavior self-efficacy were more likely to practice the health promoting behavior whereas those with lower health behavior self-efficacy, lower self-control, lower self- assertiveness, less shyness were more likely to practice health risk behavior and juvenile delinquency. In case of prep schools, those with higher health behavior self-efficacy and better perceived health status were more likely to practice the health promoting behavior while those with less shyness, lower health behavior self-efficacy and lower academic achievement were more likely to engage in health risk behavior and juvenile delinquency. In case of vocational schools, as health behavior self-efficacy and economic level were higher, the practice rate of health promoting behavior was higher. As the self-control, shyness, self-assertiveness, health behavior self-efficacy were lower, the rate of health risk behavior and juvenile delinquency were higher. In case of social institutional schools, as, the health behavior self-efficacy, social support and economic level, health interest of parents were higher, the rate of health promoting behavior were higher. As the self-control, shyness, self-assertiveness, health behavior self-efficacy and social support were lower, the rate of health risk behavior and juvenile delinquency were higher. So the health promoting behavior was positively related to the health behavior self-efficacy, health interest of parents, social support, education level of fathers, level of perceived health status, economic level. The health risk behavior and juvenile delinquency were higher with the lower health behavior self-efficacy, self-control and self-assertiveness, lower health locus control, less shyness and loneliness, lower economic level and academic achievement. In conclusion, the health risk behavior and juvenile delinquency can be reduced by enhancing self-control, self-assertiveness, health behavior self-efficacy and social support. According to the final model drawn by connecting health behavior and juvenile delinquency, the reduction of health risk behavior can greatly contribute to decreasing social juvenile delinquency as the process of juvenile delinquency was extended from common behaviors to problem behaviors and further into juvenile delinquency.

• Journal of the Korean Geographical Society
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• v.49 no.6
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• pp.935-948
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• 2014

As chronic diseases have become more prevalent and problematic, effective cares for major chronic diseases have been a locus of the healthcare policy. In this regard, this study examines how region-specific characteristics affect the prevalence of hypertension in South Korea. To analyze, we combined a unique multi-year data set including key indicators of health conditions and health behaviors at the 237 small administrative districts. The data are collected from the Annual Community Health Survey between 2009 and 2011 by Korea Centers for Disease Control and Prevention and other government organizations. For the purpose of investigating regional variations, we estimated using Geographically Weighted Regression (GWR) and decision tree model. Our finding first suggests that using the multi-year data is more legitimate than using the single-year data for the geographical analysis of chronic diseases, because the significant annual differences are observed in most variables. We also find that the prevalence of hypertension is more likely to be positively associated with the prevalence of diabetes and obesity but to be negatively associated with population density. More importantly, noticeable geographical variations in these factors are observed according to the results from the GWR. In line with this result, additional findings from the decision tree model suggest that primary influential factors that affect the hypertension prevalence are indeed heterogeneous across regional groups. Taken as a whole, accounting for geographical variations of health conditions, health behaviors and other socioeconomic factors is very important when the regionally customized healthcare policy is implemented to mitigate the hypertension prevalence. In short, our study sheds light on possible ways to manage the chronic diseases for policy makers in the local government.