• 제목/요약/키워드: Genomic cohort research

검색결과 20건 처리시간 0.027초

Expression Profiles of Loneliness-associated Genes for Survival Prediction in Cancer Patients

  • You, Liang-Fu;Yeh, Jia-Rong;Su, Mu-Chun
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권1호
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    • pp.185-190
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    • 2014
  • Influence of loneliness on human survival has been established epidemiologically, but genomic research remains undeveloped. We identified 34 loneliness-associated genes which were statistically significant for high-lonely and low-lonely individuals. With the univariate Cox proportional hazards regression model, we obtained corresponding regression coefficients for loneliness-associated genes fo individual cancer patients. Furthermore, risk scores could be generated with the combination of gene expression level multiplied by corresponding regression coefficients of loneliness-associated genes. We verified that high-risk score cancer patients had shorter mean survival time than their low-risk score counterparts. Then we validated the loneliness-associated gene signature in three independent brain cancer cohorts with Kaplan-Meier survival curves (n=77, 85 and 191), significantly separable by log-rank test with hazard ratios (HR) >1 and p-values <0.0001 (HR=2.94, 3.82, and 1.78). Moreover, we validated the loneliness-associated gene signature in bone cancer (HR=5.10, p-value=4.69e-3), lung cancer (HR=2.86, p-value=4.71e-5), ovarian cancer (HR=1.97, p-value=3.11e-5), and leukemia (HR=2.06, p-value=1.79e-4) cohorts. The last lymphoma cohort proved to have an HR=3.50, p-value=1.15e-7. Loneliness-associated genes had good survival prediction for cancer patients, especially bone cancer patients. Our study provided the first indication that expression of loneliness-associated genes are related to survival time of cancer patients.

농촌지역 주민의 공복혈당장애와 관련요인 (Associated Factors of Impaired Fasting Glucose in Some Korean Rural Adults)

  • 윤혜은;한미아;강명근;박종;김기순;류소연
    • Journal of Preventive Medicine and Public Health
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    • 제43권4호
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    • pp.309-318
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    • 2010
  • Objective: This study was performed to investigate the prevalence of impaired fasting glucose (IFG) and its related characteristics among healthy adults in some Korean rural areas. Methods: We conducted a cross-sectional study using the data from 1352 adults who were over the age 40 and under the age 70 and who were free of diabetes mellitus (DM), cardiovascular diseases and other diseases and who participated in a survey conducted as part of the Korean Rural Genomic Cohort Study. IFG was defined as a serum fasting glucose level between 100 and 125 mg/dL. Results: The prevalence of IFG was 20.4% in men, 15.5% in women and 12.7% overall. Multivariate logistic regression analysis demonstrated that the independent risk factors for IFG were male gender, having a family history of DM, the quartiles of gamma glutamyltransferase and high sensitive C-reactive protein and the waist circumference. The homeostatis model assessment for insulin resistance was very strongly associated with IFG. The prevalence of metabolic syndrome (MS) and MS components was higher in the subjects with IFG then in those with normal fasting glucose (NFG). Conclusions: The result of study could supply evidence to find the high risk population and to determine a strategy for treating IFG. Further research is needed to explain the causal relationship and mechanisms of IFG.

청소년 대상 라돈 위해 의사전달 경로 선정을 위한 인식도 조사 연구 (A Study on Perception for Risk Communication Channel Selection for Radon for Youth)

  • 박태현;전형진;강대용;권명희;박시현;박세정;이철민
    • 한국환경보건학회지
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    • 제43권5호
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    • pp.382-392
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    • 2017
  • Objectives: The purpose of this study is to obtain basic data on the development of a risk communication model through an investigation of risk perception for radon and identify effective risk communication channels. Methods: A questionnaire was used to evaluate differences in perception level according to respective communication channels. A chi-squared test was used to analyze the difference in pre- and post-risk communication by communication channel. One-way ANOVA was used to analyze the difference in the radon risk perception rate for each communication channel. Results: All of the communication channels resulted in increased radon risk perception, but there was no statistical difference between them in terms of perception (p>0.05). However, based on previous findings that it is effective to use a multi-channel approach, it is considered that communication channels based on duplicate avenues is most appropriate. Conclusions: It is expected that this study will be used as basic data to better understand the formation of public opinion about radon risk and to understand the social reaction to each risk factor.

결절교체 유방모형을 이용한 인지.행동 통합 유방암 예방교육 효과 -간호학생을 대상으로- (Effects on Nursing Students of Cognition-Behavior Integrated Breast Cancer Prevention Education Using an Interchangeable Nodule Model)

  • 박소미;김보환;박미정;안양희;정재원
    • 여성건강간호학회지
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    • 제16권2호
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    • pp.166-176
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    • 2010
  • Purpose: The study was done to examine the effects of cognition-behavior integrated breast cancer prevention education, in which a breast model with interchangeable nodules was utilized, on the self-competency of nursing students in performing breast cancer education. Methods: A nonequivalent control group non-synchronized design was used. A traditional lecture intervention was provided for 49 3rd year college of nursing students (control group) while the integrated breast cancer prevention education was given to 47 3rd year students in the same college one year later (experimental group). The integrated breast cancer prevention education was developed by the research team to strengthen the competency of cognitive and behavioral components in education on breast cancer. Results: Effects of the intervention were found to be significant through all study variables: knowledge about breast cancer (t=7.79, p <.001), breast cancer risk awareness (t=2.05, p <.05), self-competency of breast self-exam (t=8.27, p <.001), and intention to teach breast self-exam (t=3.87, p <.001). Conclusion: The integrated breast cancer prevention education was useful to improve not only knowledge about breast cancer but competency in performing breast examination for nursing students who acquired technical skills from various simulation nodules. As the program helped the students to be prepared as confident educators, future application of the module is recommended for academic curricula.

일부 농촌지역 주민들의 건강결정 관련요인 (Factors Affecting Health of the Rural Residents)

  • 손동국;이규식;박종구;고상백;진기남;남은우;이해종
    • 보건행정학회지
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    • 제19권4호
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    • pp.1-17
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    • 2009
  • The purpose of this study was to find factors affecting health of the rural residents. The data were collected from a sample of 2,587 people aged from 40 to 70 in the year 2005-2006, Wonju City and Pyeongchang County, Gangwon-do, Korea. The theoretical model adopted in this study was the Lalonde's health field(human biology, environment, lifestyle, and health care organization). SF-12 was used to measure subjective health status. In the category of human biology, men were healthier than women. Age and BMI showed negative relation to health status. Income, education and social support showed positive relation to health status in the environment category. In the category of life style, stress showed negative relation to health status. Medical expenses showed negative relation to health status in the category of health care organization. After converting SF-12 score to percentage score, the health determinants portions were 47% lifestyle, 26% environment, 18% human biology and 9% health care organization. These findings suggest that life style, environment and biology are main factors in determinants of health. Especially stress in the life style category is more focused for the community health promotion. We also may be able to improve income, education and social support in the environment category with self empowerment efforts, community supports and government helps. Finally greater attention must be payed to life style in the future health planning and budget allocation priority in the healthcare area.

한국인 전반적 급진성 치주염 환자에서 IL-6 유전자 다변성에 관한 연구 (IL-6 gene promoter polymorph isms in Korean generalized aggressive periodontitis)

  • 방선정;김일신;김옥수;김영준;정현주
    • Journal of Periodontal and Implant Science
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    • 제38권4호
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    • pp.579-588
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    • 2008
  • Purpose: The purpose of this study was to investigate the association of generalized aggressive periodontitis with IL-6 promoter gene single nucleotide polymorphisms(SNP). Material and Methods: The study population consisted of 52 generalized aggressive periodontitis patients(GAP) and 30 periodontally healthy control subjects, who were systemically healthy non-smokers. Genomic DNA was obtained from buccal swab. The IL-6 promotor SNP at the positions of -597, -572, and -174 were genotyped by amplifying the polymorphic region using polymerase chain reaction(PCR), restriction enzyme digestion and gel electrophoresis. Result: The genotype distributions for G/G, G/A and A/A genotypes of IL-6 -597 were 30.8%, 40.4%, and 28.8% in the GAP group and 53.3%, 40%, and 6.7% in the control group and were statistically different between 2 groups(p<0.05). Allele 2 frequency of IL-6 -597 were significantly higher in the GAP group than the control group(p<0.01). At the position of IL-6 -572, the distribution for C/C, C/G and G/G genotypes were 23.1%, 55.8% and 21.2% in the GAP group and 20%, 33.3%, and 46.7% in the control group. In female subjects, the genotype distribution were significantly different between 2 groups(p<0.01). In male subjects, allele 2 frequency of IL-6-572 was significantly lower in the GAP group than the control group(p<0.05). The genotype distribution of IL-6 -174 in the GAP group were 96.2%, 3.8% for G/G, G/C genotypes whereas only the G/G genotype was detected in the control group. Conclusion: In conclusion, significant associations were found in IL-6 gene promoter(-597, -572) polymorphisms and generalized aggressive periodontitis. Further cohort study will be necessary in larger population.

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • Journal of Audiology & Otology
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    • 제23권1호
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    • pp.20-26
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    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • 대한청각학회지
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    • 제23권1호
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    • pp.20-26
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    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

대사증후군에 대한 사상체질별 허리둘레 및 체질량지수의 절단값에 대한 연구 (Cut-off Values of Waist Circumference and Body Mass Index for Metabolic Syndrome according to Sasang Constitution)

  • 최재완;유준상
    • 사상체질의학회지
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    • 제26권4호
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    • pp.365-378
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    • 2014
  • Objectives This study was performed to investigate the cut-off values of abdominal circumference and Body Mass Index(BMI) according to Sasang Constitution. Methods A total of 1,773 persons, namely 440 male people and 1,333 female people, in ages from 40 to 69 years old, participated in this research. They are all included in the community based Genomic cohort in Wonju in years from 2006 to 2013. The diagnostic criteria of metabolic syndrome was used followed by the National Cholesterol Education Program in Adult Treatment Panel III (NCEP ATP III) and Asian pacific guideline for only abdominal obesity. Results The prevalence of metabolic syndrome was 34.8% for men and 37.6% for women in this research. Taeeumin was the highly significant risk type for the metabolic syndrome in both sexes. Cut-off values of abdominal circumference were 88.3 cm in men, 80.3 cm in women, and cut-off values of BMI were $24.2kg/m^2$ in men and $25.3kg/m^2$ in women. For men, cut-off values of abdominal circumference were 79.5cm in Soyangin, 88.8 cm in Taeeumin and 79.5 cm in Soeumin, and cut-off values of BMI were $23.2kg/m^2$ in Soyangin, $25.6kg/m^2$ in Taeeumin and $20.6kg/m^2$ in Soeumin. For women, cut-off values of abdominal circumference were 76.3 cm in Soyangin, 80.3 cm in Taeeumin and 76.8 cm in Soeumin, and cut-off values of BMI were $22.4kg/m^2$ in Soyangin, $24.9kg/m^2$ in Taeeumin and $21.3kg/m^2$ in Soeumin. Conclusions Although 90 cm in men, 80 cm in women as an Asian pacific guideline were regarded as quite approximate to the mean value of abdominal circumference and $25kg/m^2$ to BMI. But if the results could be allocated in terms of the Sasang constitutional method, the cut-off values for Soyangin and Soeumin should be lowered than now.

Apolipoprotein A5 3'-UTR variants and cardiometabolic traits in Koreans: results from the Korean genome and epidemiology study and the Korea National Health and Nutrition Examination Survey

  • Kim, Oh Yoen;Moon, Jiyoung;Jo, Garam;Kwak, So-Young;Kim, Ji Young;Shin, Min-Jeong
    • Nutrition Research and Practice
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    • 제12권1호
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    • pp.61-68
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    • 2018
  • BACKGROUND/OBJECTIVES: This study aimed to test the association between APOA5 3'-UTR variants (rs662799) and cardiometabolic traits in Koreans. SUBJECTS/METHODS: For this study, epidemiological data, Apolipoprotein A5 (APOA5) genotype information, and lymphoblastoid cell line (LCL) biospecimens from a subset of the Ansung-Ansan cohort within the Korean Genome and Epidemiology study (KoGES-ASAS; n = 7,704) as well as epidemiological data along with genomic DNA biospecimens of participants from a subset of the Korea National Health and Nutrition Examination Survey (KNHANES 2011-12; n = 2,235) were obtained. APOA5 mRNA expression was also measured. RESULTS: APOA5 rs662799 genotype distributions in both the KoGES-ASAS and KNHANES groups were 50.6% for TT, 41.3% for TC, and 8.1% for CC, which are similar to those in previous reports. In both groups, minor C allele carriers, particularly subjects with CC homozygosity, had lower high-density lipoprotein (HDL) cholesterol and higher triglyceride levels than TT homozygotes. Linear regression analysis showed that the minor C allele significantly contributed to reduction of circulating HDL cholesterol levels [${\beta}=-2.048$, P < 0.001; ${\beta}=-2.199$, P < 0.001] as well as elevation of circulating triglyceride levels [${\beta}=0.053$, P < 0.001; ${\beta}=0.066$, P < 0.001] in both the KoGES-ASAS and KNHANES groups. In addition, higher expression levels of APOA5 in LCLs of 64 healthy individuals were negatively associated with body mass index (r = -0.277, P = 0.027) and circulating triglyceride level (r = -0.340, P = 0.006) but not significantly correlated with circulating HDL cholesterol level. On the other hand, we observed no significant difference in the mRNA level of APOA5 according to APOA5 rs662799 polymorphisms. CONCLUSIONS: The C allele of APOA5 rs662799 was found to be significantly associated with cardiometabolic traits in a large Korean population from the KoGES-ASAS and KNHANES. The effect of this genotype may be associated with post-transcriptional regulation, which deserves further experimental confirmation.