• Asian Pacific Journal of Cancer Prevention
• /
• 제16권17호
• /
• pp.7831-7836
• /
• 2015

Background: Colorectal cancer (CRC) is one of the most common malignancies of the gastrointestinal tract. The aim of this study was to assess the general knowledge of CRC in individuals living in Rasht, Iran, using a population-based cross-sectional telephone survey. Materials and Methods: A total of 1557 participants between 18 and 80 years of age were interviewed using random sampling from the telephone directory. Knowledge of risk factors, symptoms, diagnosis, and prevention of CRC was assessed using a validated questionnaire. Results: The mean knowledge level of the 1,557 respondents (average age 46 y) was $13.5{\pm}4.29$ (maximum possible score = 26), and 46.4% (722/1,557) of the subjects achieved grades lower than the mean score. The mean scores for knowledge of symptoms and risk factors were $3.97{\pm}1.83$ (range: 0-7) and $5.17{\pm}1.65$ (range: 0-9), respectively. Older age, higher education, and employment were significantly associated with better scores for recognition of risk factors and warning symptoms. The majority of subjects correctly identified weight loss (70.2%; 1,093/1,557) and rectal bleeding (63.3%; 986/1,557) as symptoms of CRC, and that smoking (85.9%; 1,337/1,557) and a low-fiber diet (73.4%; 1,143/1,557) were risk factors. Approximately half of the subjects noted increasing age, genetic background and fried food as other risk factors. A considerable number (54.8%; 853/1,557) identified colonoscopy as a screening method for detecting CRC in asymptomatic patients. However, a third of the subjects in the target group for screening (${\geq}50y$) were not interested in undergoing screening, primarily due to a lack of symptoms. Conclusions: Our results suggest that the knowledge of CRC is poor among the public, and therefore greater attempts should be made to increase awareness. Public education emphasizing the risk factors and symptoms of CRC, as well as the importance of regular screening regardless of the presence of symptoms, may help to reduce CRC morbidity and mortality.

• 비만대사연구학술지
• /
• 제2권1호
• /
• pp.29-35
• /
• 2023

Familial hypercholesterolemia (FH) is a genetic disease that is not well known or diagnosed in Korea. This disease is associated with persistently high levels of low-density lipoprotein cholesterol (LDL-C), which increase the risk of coronary artery disease at a young age. Therefore, early diagnosis and treatment are important; however, there are no global consensus diagnostic criteria. In Korea, the Dutch Lipid Clinic Network diagnostic criteria, and the Simon Broome diagnostic criteria were used for diagnosis of FH according to the agreement announced at the Korean Society of Lipid and Atherosclerosis (KSoLA) in 2022. Recently, the absence of coronary artery calcification has been considered a good prognostic factor, even among patients with very high LDL-C levels who are considered to be at high risk for atherosclerotic cardiovascular disease. We describe throughout this paper the diagnosis and treatment of FH in a young male without coronary artery calcification.

• 생명과학회지
• /
• 제20권12호
• /
• pp.1758-1763
• /
• 2010

골다공증은 복합적 전신 골격 질환으로, 공중 보건 분야의 전세계적인 주요한 관심 질환의 한 가지이다. 골다공증은 유전적 영향을 받는 질환으로, 낮은 골밀도와 적은 외력 의한 골다공성 골절 등의 특징을 보이며, 강한 유전성을 나타내는 질환이다. 그러나, 낮은 골밀도과 연관된 특정한 유전자의 다형성은 아직까지 많이 알려져 있지 않다. 본 연구에서는 SQSTM1 유전자의 유전적 다형성과 낮은 골밀도 사이의 상관성을 확인하기 위해, 한국인 유전체 연구(Korean Association Resource, KARE)에서 골밀도를 측정한 7,225명(남성: 3,622명, 여성: 3,603명)을 대상으로 SQSTM1 유전자 다형성과 골밀도 간의 선형 회기 분석을 하였다. BD-RT (원위 요골의 T 점수로 예측한 골밀도)에서 SQSTM1 유전자에서 3개의 SNP (rs513235, rs3734007, rs11249661)가 유의한 상관성이 있는 것으로 나타났으며, BD-TT (중위 경골의 T 점수로 예측한 골밀도)에서는 4개의 SNP (rs513235, rs3734007, rs2241349, rs11249661)가 유의한 상관성이 있는 것으로 나타났다. 특히 3개의 SNP (rs513235, rs3734007, rs11249661)는 BD-RT와 BD-TT 두 종류의 골밀도에서 공통적으로 유의한 상관성을 보였다. 이러한 결과로 미루어 골밀도와 SQSTM1 유전자의 다형성 간에 통계적으로 유의한 상관성을 가지며, SQSTM1 유전자는 골다공증의 발병과정에 관련이 있을 것으로 사료된다.

• Journal of Nutrition and Health
• /
• 제57권2호
• /
• pp.211-227
• /
• 2024

본 연구에서는 해조류 섭취와 염증과 관련된 유전자의 변이 및 다유전자 위험 점수 간의 상호작용이 염증에 미치는 영향을 확인하였다. 남성과 여성 모두 PRS가 높은 그룹에서 염증 발생 위험은 증가하였다. 본 연구에서는 해조류의 섭취가 염증과 직접적인 관련이 있는 것으로 밝혀지지 않았지만, 해조류 섭취와 다유전자 위험 점수 변이 사이에선 통계적으로 유의한 결과를 보였다. 특히, 낮은 해조류의 섭취는 높은 다유전자 위험 점수를 가진 여성에서 고염증 발생 위험이 높았다. 따라서 본 연구결과는 한국인에게서 작용하는 염증 및 염증질환에 대한 유전자 소인을 파악할 수 있고 면역 체계의 균형 및 건강 유지에 새로운 중재방안을 제시할 수 있음을 기대한다.

• 동의생리병리학회지
• /
• 제20권6호
• /
• pp.1732-1741
• /
• 2006

Obesity is chronic disease which influenced on health severly. The causes of obesity have been known as life change, lack of excercise, genetic factor, mental and social economic factors. Especially the obesity of women increased the risk of the diseases such as DM, osteoarthritis, cardiovascular disease, breast cancer and infertility. The limitations of the widely used negative definition of health as the absence of disease and WHO's 1946 definition of health as total social, psychological and physical well-being have long been recognized (WHO 1958). The Quality of Life (QoL) includes functional ability, the degree and quality of social and community interaction, psychological well-being as somatic sensation and life satisfaction. I investigated to compare the differences between obese women (n=63), non-obese women (n=37) in clinic and general women (n=43, control) on baseline characteristics and WHO QoL-BREF. The purpose of this study is to assist the diagnosis and treatment of obesity. WHO QoL-BREF is self administered type which consisted of 26 questions. The prospective question is calculated with 5 scores by Likert's method. The results are as follows : The means of physical, psychological, social, overall and total scores of QoL were significant among BMI group (P<0.05). The score of control group (BMI < 25) was higher than other groups significantly (P<0.05). In multiple regression analysis, the variable of high school/below middle school was significant in environmental and overall domain of QoL scores (P<0.05). The variable of college/below middle school was significant in environmental, overall domain and total score of QoL scores (P<0.05). The variable of above university/below middle school was significant in physical health, environmental, overall domain and total score in QoL scores (P<0.05). The variable of Health perception (moderate/bad) was positively significant in physical health, environmental, overall domain and total score of QoL scores (P<0.05). The variable of Health perception (good/bed) was positively significant in physical health, environmental, social, overall domain and total score of QoL scores (P<0.05). The variable as BMI non-=obese women/control was negatively significant in social domain of QoL scores (P<0.05). Above the results, It suggests that the variable as BMI did't affect on the QoL in patients and control, but the variables as education and health perception affected on the QoL scores. Further study is required to conduct QoL differences between before and after treatment of obese patients.

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권1호
• /
• pp.145-150
• /
• 2014

MicroRNAs (miRNAs) negatively regulate gene expression and act as tumor suppressors or oncogenes in oncogenesis. The association between a single nucleotide polymorphism (SNP) in miR-146a rs2910164 and susceptibility to digestive system cancers was inconsistent in previous studies. In this study, we conducted a literature search of PubMed to identify all relevant studies published before August 31, 2013. A total of 21 independent case-control studies were included in this updated meta-analysis with 9,558 cases and 10,614 controls. We found that the miR-146a rs2910164 polymorphism was significantly associated with decreased risk of digestive system cancers in an allele model (OR=0.90, 95%CI 0.87-0.94), homozygote model (OR=0.84, 95%CI 0.77-0.91), dominant model (OR=0.90, 95%CI 0.84-0.96), and recessive model (OR=0.85, 95%CI 0.79-0.91), while in a heterozygous model (OR = 0.99, 95% CI 0.89-1.11) the association showed marginal significance. Subgroup analysis by cancer site revealed decreased risk in colorectal cancer above allele model (OR=0.90, 95%CI 0.83-0.97) and homozygote model (OR=0.85, 95%CI 0.72-1.00). Similarly, decreased cancer risk was observed when compared with allele model (OR=0.87, 95%CI 0.81-0.93) and recessive model (OR=0.81, 95%CI 0.72-0.90) in gastric cancer. When stratified by ethnicity, genotyping methods and quality score, decreased cancer risks were also observed. This current meta-analysis indicated that miR-146a rs2910164 polymorphism may decrease the susceptibility to digestive system cancers, especially in Asian populations.

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권19호
• /
• pp.8311-8317
• /
• 2014

Background: Evidence supporting an association between the 8q24 rs4242382-A polymorphism and prostate cancer (PCa) risk has been reported in North American and Europe populations, though data from Asian populations remain limited. We therefore investigated this association by clinical detection in China, and meta-analysis in Asian, Caucasian and African-American populations. Materials and Methods: Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=335) and from age-matched normal controls (n=347). The 8q24 (rs4242382) gene polymorphism was genotyped by polymerase chain reaction-high-resolution melting analysis. We initially analyzed the associations between the risk allele and PCa and clinical covariates. A meta-analysis was then performed using genotyping data from a total of 1,793 PCa cases and 1,864 controls from our study and previously published studies in American and European populations, to determine the association between PCa and risk genotype. Results: The incidence of the risk allele was higher in PCa cases than controls (0.222 vs 0.140, $P=7.3{\times}10^{-5}$), suggesting that the 8q24 rs4242382-A polymorphism was associated with PCa risk in Chinese men. The genotypes in subjects were in accordance with a dominant genetic model (ORadj=2.03, 95%CI: 1.42-2.91, $Padj=1.1{\times}10^{-4}$). Presence of the risk allele rs4242382-A at 8q24 was also associated with clinical covariates including age at diagnosis ${\geq}65$ years, prostate specific antigen >10 ng/ml, Gleason score <8, tumor stage and aggressive PCa, compared with the non-risk genotype ($P=4.6{\times}10^{-5}-3.0{\times}10^{-2}$). Meta-analysis confirmed the association between 8q24 rs4242382-A polymorphism and PCa risk (OR=1.62, 95%CI: 1.39-1.88, $P=1.0{\times}10^{-5}$) across Asian, Caucasian and African American populations. Conclusions: The replicated data suggest that the 8q24 rs4242382-A variation might be associated with increased PCa susceptibility in Asian, Caucasian and African American populations. These results imply that this polymorphism may be a useful risk biomarker for PCa in multi-ethnic populations.

• Asian Pacific Journal of Cancer Prevention
• /
• 제13권12호
• /
• pp.6273-6276
• /
• 2012

Background/Aim: Six prostate cancer (PCa) susceptibility loci were identified in a genome-wide association study (GWAS) in populations of European decent. However, the associations of these 6 single-nucleotide polymorphisms (SNPs) with PCa has remained tobe clarified in men in Northern China. This study aimed to explore the loci associated with PCa risk in a Northern Chinese population. Methods: Blood samples and clinical information of 289 PCa patients and 288 controls from Beijing and Tianjin were collected. All risk SNPs were genotyped using polymerase chain reaction (PCR)-high resolution melting curve technology and gene sequencing. Associations between PCa and clinical covariates (age at diagnosis, prostate-specific antigen [PSA], Gleason score, tumor stage, and level of aggressiveness) and frequencies of alleles and genotypes of these SNPs were analyzed using genetic statistics. Results: Among the candidate SNPs, 11p15 (rs7127900, A) was associated with PCa risk (P = 0.02, odds ratio [OR] = 1.64, 95% confidence interval [CI] = 1.09-2.46). Genotypes showed differences between cases and controls on 11p15 (rs7127900, A), 11q13 (rs7931342, T), and HNF1B (rs4430796, A) (P = 0.03, P = 0.01, and P = 0.04, respectively). The genotype TG on 11q13 (rs7931342, T) was positively associated with an increased Gleason score (P = 0.04, OR = 2.15, 95% CI = 1.02-4.55). Patients carrying TG on 17q24 (rs1859962, G) were negatively associated with an increased body mass index (BMI) (P = 0.03, OR = 0.44, 95% CI = 0.21-0.92) while those with AG on HNF1B (rs4430796, A) were more likely to have PSA increase (P = 0.002). Conclusion: Our study suggests that 11p15 (rs7127900, A) could be a susceptibility locus associated with PCa in Northern Chinese. Genotype TG on 11q13 (rs7931342, T) could be related to an increased Gleason score, AG on HNF1B (rs4430796, A) could be associated with PSA increase, and TG on 17q24 (rs1859962, G) could be negatively associated with an increased BMI in Chinese men with PCa.

• Journal of the Korean Data and Information Science Society
• /
• 제25권5호
• /
• pp.1057-1067
• /
• 2014

인간게놈 프로젝트 이후 질병과 연관된 변이유전자를 탐색하기 위해 유전형질의 차이에 영향을 주는 단일 유전자를 중심으로 전장유전체 연관성 연구가 활발하게 진행되어왔다. 그러나 전장유전체 연관성 연구에서 접근한 단일유전자 분석방법에 한계점이 발견되면서 최근에는 다중유전자 분석방법이나 유전자-유전자간의 상호작용에 대한 연구들이 활발하게 진행 중이다. 이 중 다중차원축소방법은 유전자-유전자간의 상호작용의 연관성을 찾아내기 위하여 고차원을 일차원으로 축소하는 방법으로 이진형 반응변수를 기반으로 크게 활용되고 있다. 본 논문에서는 이 방법을 생존시간으로 확장하여 생존시간과 연관된 유전자-유전자간의 상호작용을 찾아내는 방법을 제안하고자 한다. 구체적으로 가속화 고장시간 회귀모형 하에서 표준화잔차 스코어를 분류기준으로 사용하여 다중차원축소방법을 적용하는 방법으로 AFT-MDR이라고 지칭하였다. 시뮬레이션 연구를 통하여 기존에 제안된 Surv-MDR과 Cox-MDR과의 검정력을 비교하였으며 국내의 백혈병환자 자료분석에 적용하였다. 시뮬레이션 결과로부터 AFT-MDR은 유전율이 높을수록 검정력이 커지며 회귀모형에 기반하여 공변량의 효과를 고려할 수 있다는 장점이 있으나 센서링 비율이 높아지면서 검정력이 매우 떨어진다는 단점이 발견되었다. 따라서 이를 보완하기 위한 추후연구의 필요성이 요구된다.

• Asian Pacific Journal of Cancer Prevention
• /
• 제13권12호
• /
• pp.6311-6318
• /
• 2012

Background: HER2/neu overexpression due to gene amplification is an important factor in breast cancer, modifying the sensitivity to anti-HER2 monoclonal antibody therapy. The clinical significance of HER2 expression in non small cell lung carcinoma (NSCLC) is currently under evaluation. The tumor suppressor gene PTEN negatively regulates the HER2/PI3K/Akt signalling pathway. The purpose of this study was to evaluate the role of simultaneous alteration in HER2 and PTEN protein expression in relation to biological behaviour of NSCLCs. Materials and Methods: Protein expression was determined by immunohistochemistry in sixty-one (n=61) NSCLC cases along with CISH for HER2 gene analysis and detection of chromosome 17 aneuploidy. Patients were followed-up for a period of 34 to 41 months after surgery. Results: HER2 overexpression (2+/3+score) was detected in 17 (27.9%) patients while loss of PTEN expression was observed in 24 (39.3%) cases, low expression in 29 (47.6%) and overexpression in 8 (13.1%). Simultaneous HER2 overexpression and PTEN low/loss of expression were correlated with metastasis (71.4% vs 36.2% p=0.03). Analysis in the subgroup of 22 patients of pTNM stage III with lymph node status N1 or N2 revealed that there was a relationship between the number of positive regional lymph node groups and simultaneous deregulation of the two genes (p=0.04). Multivariate analysis determined that HER2 overexpression was associated with an increasing risk of developing metastases (OR: 4.3; 95%CI: 1.2-15.9; p: 0.03) while PTEN overexpression was associated with lower risk (OR: 0.1; 95%CI: 0.1, 1.0; p: 0.05). Conclusions: Simultaneous HER2/PTEN deregulation is a significant genetic event that leads to a more aggressive phenotype of NSCLC.