1.Risk prediction and model construction of bone metastasis in primary liver cancer
Ying SONG ; Qing WU ; Xiao-ying ZHAI
Journal of Public Health and Preventive Medicine 2022;33(6):102-105
Objective To construct and validate a predictive model for the risk of bone metastasis in patients with primary liver cancer. Methods The research was generally divided into two parts: model establishment and model validation. A total of 197 patients with primary liver cancer from January 2018 to June 2018 were selected to be included in the study when building the model, and the nomogram prediction model based on Cox regression was used in the case-control study method. The validation process continued to select 238 patients with primary liver cancer (no bone metastasis) in our hospital (from July 2018 to December 2018) and followed up for 3 years. The information of the prognosis of bone metastasis during the follow-up period was observed and collected to complete the validation. SPSS statistical software and R software were used to complete the data analysis. Results The results of regression analysis at the stage of building the model showed that age, family history of malignant tumor, previous history of hepatitis B, tumor stage, primary focus surgery and tumor differentiation were independent factors affecting the prognosis of patients with bone metastasis (P <0.05). The nomogram clinical prediction model was established by using R software. The prediction model finally included four factors: age, previous history of hepatitis B, primary surgery, and degree of differentiation. The AUC of ROC curve for predicting the risk of bone metastasis was 0.758. Conclusion The nomogram model constructed in this study has a medium to high degree of predictive calibration for predicting the risk of bone metastasis in patients with primary liver cancer within 3 years and is worthy of clinical auxiliary use.
2.The A-204C Polymorphism in CYP7A1 Gene Affects Its Promoter Activity
Yujuan CHEN ; Sizhong ZHANG ; Cuiying XIAO ; Dachang TAO ; Guoping HE ; Yingcheng WANG ; Yunqiang LIU ; Yongxin MA
Chinese Journal of Biochemistry and Molecular Biology 2006;22(6):450-453
cholesterol 7α-hydroxylase gene ( CYP7A 1 ) plays a key role in the catabolism of cholesterol into bile acids. To investigate whether the A-204C polymorphism in CYP7A1 gene affects the gene expression,using luciferase as the reporter gene, four recombinants were constructed by inserting forward or reverse sequence with A or C allele at the polymorphism site into the promoter-less vector pGL3-basic. The constructs were then transfected into four cell lines and the luciferase activity of each expression vector was examined by dual luciferase reporter gene assay system. The results showed that activities of the forward sequence of both genotypes were higher than that of reverse sequence. Promoter activity of the recombinants with A allele was about one third lower than that with C allele. According to the analysis with TRANSFAC database, there may exist a Zic3 binding site when there is the C allele at -204. Our study indicates that the A-204 C polymorphism in CYP7A1 promoter region decreases its promoter activity and thus represses the gene expression, possibly due to the lack of a potential Zic3 binding site.
3.A twin study of genetic effects on intelligence development of children and adolescents
Xiaomei HU ; Yixiao FU ; Xingshun MA ; Xiao HOU ; Yingqing ZHOU ; Wenfen ZHU ; Huaqing MENG ; Lu JIA ; Qing QING ; Wei DENG ; Tao LI ; Yingcheng WANG
Chongqing Medicine 2014;(4):394-395,398
Objective Using twins methods to explore the influence of genetic and environmental factor on Intelligence develop-ment of children and adolescent twins .Methods It was 190 pair of twins aged 6 to 18 who lived in Chongqing were recruited ,DNA were extracted from buccal mucosa and venous blood samples to identify zygosity .The intelligence was investigated by using the Wechsler Intelligence Scale for Children(C-WISC) ,the intrapair correlation coefficients of twins were compared and calculate the genetic degrees .Results The total IQ of children aged 6 to 18 heritability were 0 .63 ,Verbal IQ were 0 .44 ,Performance IQ were 0 .57 .The total IQ heritability of children aged 10 to 14 and 15 to 18 years(0 .78 ,0 .79) were higher than that of those aged from 6 to 9 years(0 .018) .Conclusion This study suggested the intelligence of children aged 6 to 18 affected by genetic and environment , and the older ,the more influence of genetic on intelligence development .
4.Genetic and environmental influences on emotional and behavioral problems in children and adolescents
Xiaomei HU ; Xingshun MA ; Yixiao FU ; Yingqing ZHOU ; Wenfen ZHU ; Xiao HOU ; Huaqing MENG ; Lu JIA ; Qing QIN ; Tian QIU ; Yang LIU ; Xiao LI ; Yingcheng WANG ; Wei DENG ; Tao LI
Chinese Journal of Nervous and Mental Diseases 2013;(12):739-743
Objective To explore the influence of genetic and environmental factors on emotional and behavioral problems in children and adolescents using twins quantitative method. Methods One hundred fifty-six twins pairs, aged from 6 to 18, were included in the present study. The parental version of the strengths and difficulties questionnaire (SDQ)was used to evaluate their emotional and behavioral problems. The DNA test of twin zygosity was conducted using DNA extracted from buccal mucosa or venous blood samples. The influence of genetic and environmental factors on emo-tional and behavioral problems was analyzed using structural equation modeling(SEM). Results Shared environment and special environment had impact on emotional symptoms and their contribution to the total variance of emotional symp- tom was 0.42 and 0.58, respectively. Prosocial behavior was mainly affected by shared environment and the contribution of shared environment to the total variance of prosocial behavior was 0.89. Genetic factors had greater influence on hyperac-tivity/attention deficit and the contribution of genetic factors to the total variance was 0.62. Shared environment had more influence on conduct disorder and the contribution of shared environment to total variance was 0.56. Heredity, shared envi-ronment and special environment had impact on peer problems and their contribution to the total variance was 0.24, 0.33 and 0.43, respectively. Conclusion In child and adolescent period, emotional symptoms are only affected by environ-ment, while behavior problems are affected by the combination of heredity and environment. Different behavior problems are affected by different genetic and environmental factors.
5.Association of gender, age, education and polymorphism of DRD4 gene with cognitive functions in adults.
Liansheng ZHAO ; Yingcheng WANG ; Jingxue WEI ; Xiao YANG ; Peiyan NI ; Xiaochu GU ; Tao LI ; Xiaohong MA
Chinese Journal of Medical Genetics 2015;32(3):391-394
OBJECTIVETo assess the association of cognitive functions with gender, age, education and polymorphism of dopamine receptor D4 (DRD4) gene in healthy adults.
METHODSFour hundred and fifty-five healthy participants have completed 3 cognitive function tests including Tower of Hanoi (TOH), Wisconsin Card Sorting Test (WCST) and Trail Making Test (TMT). Peripheral blood samples were collected from all participants, and genomic DNA was extracted according to a standard phenol-chloroform procedure. Rs3758653 in the promoter region of the DRD4 gene was genotyped using Illumina GoldenGate genotyping assay.
RESULTSMales have performed better than females in terms of TOH executive time and TOH total score, but did worse in TOH planning time. Most of the measured cognitive domains were affected by age and education. Cognitive ability has decreased along with increased age and decline of educational years. The polymorphism of rs3758653 has mainly correlated with the TOH executive time. Compared with A allele carriers, G allele carriers did worse in TOH executive time.
CONCLUSIONGender, age, education and the rs3758653 polymorphism of the DRD4 gene play an important role in cognitive functions in healthy adults.
Adolescent ; Adult ; Age Factors ; Cognition ; Education ; Female ; Humans ; Male ; Middle Aged ; Neuropsychological Tests ; Polymorphism, Single Nucleotide ; Receptors, Dopamine D4 ; genetics ; Sex Factors ; Young Adult
6.Effect of hereditary and environmental factors on the executive function of twin children.
Xiaomei HU ; Xingshun MA ; Wenfen ZHU ; Yixiao FU ; Yingqing ZHOU ; Huaqing MENG ; Xiao HOU ; Lu JIA ; Qing QIN ; Yingcheng WANG ; Wei DENG ; Tao LI
Journal of Southern Medical University 2014;34(9):1291-1294
OBJECTIVETo explore the influence of genetic and environmental factors on the executive function of twin children.
METHODSThe executive function of 122 twin pairs from Chongqing (aged from 6 to 18 years) were investigated with the perseverative errors of the Wisconsin Card Sorting Test. Structural equation modeling was performed to evaluate the effects of the additive genetic factors (A), dominance genetic latent factors (D) and individual specific environmental factors (E) on the executive functions.
RESULTSThe effects of D and E on perseverative errors were 0. 77 (95%CI: 0.65-0.84) and 0.23 (95%CI: 0.16-0.35), respectively. The probability of perseverative errors showed a significant negative correlation with family functioning and with the total GHQ-12 scores of the fathers and mothers (r:-0.335, -0.335, and -0.219, respectively, P<0.01). Perseverative errors were not significantly correlated with the parenting styles and stress life events.
CONCLUSIONPerseverative errors are influenced by a common dominance genetic latent factor and individual specific environmental factors, but the role of environmental factors such as family functioning and parental health can not be ignored.
Adolescent ; Child ; Environment ; Executive Function ; Genotype ; Humans ; Neuropsychological Tests ; Phenotype
7.Association between lifestyle factors and dyslipidemia among railway workers under different shift work schedules
Yingcheng XIAO ; Hao CHEN ; Lin JIANG ; Yingnan JIA
Journal of Environmental and Occupational Medicine 2024;41(6):661-667
Background Unhealthy lifestyles may constitute significant risk factors for dyslipidemia. However, limited studies focus on the association mentioned above among railway workers undertaking frequent shift work. Objective To understand the status of dyslipidemia and lifestyles among railway workers, and to investigate the association between the lifestyles of workers involved in different shift work schedules and dyslipidemia, aiming to provide a reference for the development of targeted intervention strategies against dyslipidemia in this occupational group. Methods The participants were selected from the in-service staff of a railway unit in 2021. A quota sampling approach was used to ensure the participation of at least 50% of employees from each department. Demographic and lifestyle information of the railway workers in 2021 was collected through self-administered questionnaires, while physiological and biochemical indicators were obtained through health examinations. Chi-square tests were employed to analyze the distribution of dyslipidemia among railway workers with different characteristics. Binary logistic regression was utilized to examine the associations between selected variables and dyslipidemia, and additive model was used to investigate the interaction between lifestyle and different shift work schedules on dyslipidemia. Results A total of 17392 railway workers were included in the study, and the total prevalence of dyslipidemia was 31.3%, with a higher prevalence reported among workers undertaking rotating night shifts (33.5%) and permanent night shifts (34.3%) than those with regular day work. The main adverse lifestyles among the railway workers were physical inactivity (59.6%), alcohol consumption (40.0%), and smoking (35.7%), and only 13.6% reported a healthy lifestyle. Furthermore, significant statistical differences in the prevalence of dyslipidemia were reported among workers with different lifestyles (P<0.01). After adjusting for confounding factors, smoking was a risk factor for dyslipidemia (OR=1.61, 95%CI: 1.48, 1.75), while highly active physical activity served as a protective factor against dyslipidemia (OR=0.79, 95%CI: 0.71, 0.88). In general, adopting a healthy lifestyle was associated with a decreased risk of dyslipidemia (OR=0.86, 95%CI: 0.77, 0.95). The stratified analyses based on different shift work schedules revealed a statistically significant association between smoking and dyslipidemia across various shift work occupational groups (P<0.001): regular day work, OR=1.62, 95%CI: 1.42, 1.84; rotating night shifts, OR=1.54, 95%CI: 1.35, 1.76; and permanent night shifts, OR=1.75, 95%CI: 1.40, 2.18. In regular day workers, highly active physical activity was associated with a reduced risk of dyslipidemia (OR=0.81, 95%CI: 0.69, 0.95). A similar association was observed among workers undertaking rotating night shifts (OR=0.78, 95%CI: 0.65, 0.94); furthermore, moderately active physical activity was also associated with a reduced risk of dyslipidemia in this occupational group (OR=0.85, 95%CI: 0.74, 0.97). There was no additive interaction between rotating night shifts and lifestyle with relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (S) of 0.18 (95%CI: −0.04, 0.41), 0.15 (95%CI: −0.04, 0.33), and 3.19 (95%CI: 0.09~110.44), respectively. There was also no additive interaction between permanent night shifts and lifestyle, with RERI, AP and S of −0.03 (95%CI: −0.43~0.37), −0.02 (95%CI: −0.35~0.31) and 0.90 (95%CI: 0.18~4.46). Further stratification of populations according to shift work schedules and lifestyles revealed that those who worked rotating night shifts and reported unhealthy lifestyles were more likely to present dyslipidemia than those who undertook regular day work and had healthy lifestyles (OR=1.27, 95%CI: 1.09, 1.48). Conclusion Railway workers present less optimistic lipid health status, and unhealthy lifestyles are prevalent among them. Those engaged in night shift work report a higher prevalence of dyslipidemia. Among workers with different shift schedules, smoking and physical inactivity are identified as the primary risk factors for dyslipidemia, and particular attention should be paid to the lipid health status of rotating night shift workers with poor lifestyles.