The era of medical big data, translational medicine and precision medicine brings new opportunities for the study of etiology of chronic complex diseases. How to implement evidence-based medicine, translational medicine and precision medicine are the challenges we are facing. Systems epidemiology, a new field of epidemiology, combines medical big data with system biology and examines the statistical model of disease risk, the future risk simulation and prediction using the data at molecular, cellular, population, social and ecological levels. Due to the diversity and complexity of big data sources, the development of study design and analytic methods of systems epidemiology face new challenges and opportunities. This paper summarizes the theoretical basis, concept, objectives, significances, research design and analytic methods of systems epidemiology and its application in the field of public health.
Epidemiology ; Forecasting ; Humans ; Precision Medicine ; Translational Research, Biomedical

Objective: To evaluate the effectiveness of hepatitis B vaccination in Fujian province. Methods: Based on the hepatitis B immunization strategy of China, a cohort study was designed, involving the population in Fujian province. The population under study was divided into natural exposure birth cohort before 1992 and the immunization birth cohort after 1992 (including voluntary vaccination cohort and standardized vaccination cohort). By cleaning the database of hepatitis B cases which directly reported through network and looked into the incidence and related death outcomes of acute hepatitis B from 2004 to 2017, the incidence levels of hepatitis B and immunization effects were analyzed and evaluated among different birth cohorts. Results: During the observation period, the overall prevalence of hepatitis B in Fujian province was 44.594 per 100 000, with mortality rate as 0.010 per 100 000. The incidence of natural exposure cohort of birth was 56.885 per 100 000. The incidence of voluntary vaccination cohort of birth was 14.502 per 100 000. Compared with the voluntary vaccination cohort, the risk of hepatitis B increased significantly in the natural exposed cohort (RR=3.923), and the difference was statistically significant (P=0.000 7), with attributable risk as 42.383 per 100 000. The attributable risk ratio was 74.507. The population attributable risk ratio was 70.967%. The population attributable risk was 35.448 per 100 000. The attributable rate in standardized vaccination cohorts born after 2002 was 2.336 per 100 000. Compared with the cohorts born before 1992, the RR was 24.347 (P=0.000 0), the attributable risk was 54.549 per 100 000, and the attributable risk ratio was 95.893%, the population attributable risk ratio was 95.300%, the population attributable risk was 47.371 per 100 000, comparing to the natural exposed population. Conclusions: The effectiveness of hepatitis B immunization program had been remarkable in Fujian province since 1992. However, further studies on the persistency of hepatitis B vaccine immunization and its public health significance still needed to be carried out.
China/epidemiology* ; Cohort Studies ; Hepatitis B/prevention & control* ; Hepatitis B Vaccines/administration & dosage* ; Humans ; Immunization ; Incidence ; Odds Ratio ; Prevalence ; Risk Factors ; Vaccination/statistics & numerical data*

In the studies of modern epidemiology, exposure in a short term cannot fully elaborate the mechanism of the development of diseases or health-related events. Thus, lights have been shed on to life course epidemiology, which studies the exposures in early life time and their effects related to the development of chronic diseases. When exploring the mechanism leading from one exposure to an outcome and its effects through other factors, due to the existence of time-variant effects, conventional statistic methods could not meet the needs of etiological analysis in life course epidemiology. This paper summarizes the dynamic path analysis model, including the model structure and significance, and its application in life course epidemiology. Meanwhile, the procedure of data processing and etiology analyzing were introduced. In conclusion, dynamic path analysis is a useful tool which can be used to better elucidate the mechanisms that underlie the etiology of chronic diseases.
Chronic Disease/epidemiology* ; Epidemiologic Studies ; Humans ; Models, Theoretical ; Risk Factors ; Time

AIMTo assess whether abnormalities exist in the UBE2B gene in a population of infertile human males, and to establish biologic plausibility of any discovered mutations.

METHODSWe carried out polymerase chain reaction (PCR) amplification and sequence analysis of the 5'-untranslated region and six exons of the UBE2B gene, including flanking intronic regions, in a group of fertile and infertile men. Following the identification of a putative promoter region that contained single or dual triplet deletions within a 10-CGG repeat island, we evaluated the binding affinity of these identified polymorphisms as compared to the wild-type sequence to transcription factor SP1 using a DNA-protein gel shift assay.

RESULTSThere was a novel exonic single nucleotide polymorphism (SNP) noted in exon 4 in 5% of infertile men. In silico 3D modeling of the altered protein showed an innocuous isoleucine for valine substitution. There were no mutations noted within any of the other exons. Three novel intronic SNPs were identified within the fertile group, and seven novel intronic SNPs identified in the infertile group. The DNA-protein gel shift assay noted that both single CGG deletion and double CGG deletion bands had approximately twice the binding affinity compared to the wild-type for SP1. The negative control confirmed no non-specific protein binding.

CONCLUSIONBy themselves, a single or double CGG deletion is unlikely to pose biologic significance. However, such deletions in this suspected promoter region are associated with increased binding affinity for SP1, and might represent one of several factors required for alteration of UBE2B gene expression.

5' Untranslated Regions ; Azoospermia ; genetics ; Base Sequence ; DNA Primers ; Humans ; Male ; Mutation ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Ubiquitin-Conjugating Enzymes ; genetics

The causes of constipation are extremely complex and are still not fully clear. In addition to secondary factors such as organic diseases and drugs, constipation may also be related to genetics, diet, intestinal flora, age, gender and so on. At present, according to the etiology, chronic constipation is divided into primary constipation and secondary constipation. However, there are significant differences among current clinical guidelines in the clinical classification of primary constipation. Some guidelines classify primary constipation as slow-transit constipation (STC), outlet obstruction constipation (OOC), and mixed constipation; however, some guidelines classify primary constipation as STC, defecation disorder (DD), mixed constipation, and normal-transit constipation (NTC); what's more, some even propose types which are different from the above sub-types. There are also differences in the understanding of the relationship between functional constipation (FC) and primary constipation and the classification of irritable bowel syndrome predominant constipation (IBS-C) among various clinical guidelines. By reviewing domestic and international guidelines and relevant literature on constipation, the following conclusions are drawn: primary constipation can be divided into IBS-C and FC, and FC can be further divided into STC, OOC, and mixed constipation; primary constipation should not be confused with FC, nor should IBS-C be classified as FC.
Humans ; Irritable Bowel Syndrome/complications* ; Constipation/etiology* ; Gastrointestinal Transit

Objective: To understand the dynamic variation of BMI and influencing factors among HIV/AIDS patients receiving highly active anti-retroviral therapy (HAART) in Liuzhou, Guangxi Zhuang Autonomous Region (Guangxi). Methods: HIV/AIDS patients receiving HAART for the first time since 1 January 2013 were selected. Data on BMI was analyzed among patients receiving HAART at baseline,6 months and 12 months after treatment. By using the general linear model repeated measures of analysis of variance, BMI dynamic variations and influencing factors were described and analyzed. Results: The average BMI of 2 871 patients at baseline, 6th months and 12th months appeared as (20.65±3.32), (20.87±3.22) and (21.18±3.20), respectively, with differences all statistically significant (F=18.86, P<0.001). BMI were increasing over time with treatments (F=37.25, P<0.001). Main influencing factors were noticed as: age, sex, marital status, baseline data of CD(4)(+)T cells and the WHO classification on clinical stages. Conclusions: Higher proportion of BMI malnutrition counts was seen among patients before receiving HAART in Liuzhou. BMI of the patients that were on HAART seemed being influenced by many factors. It is necessary to select appropriate treatment protocols on different patients so as to improve the nutritional status of the patients.
Acquired Immunodeficiency Syndrome ; Antiretroviral Therapy, Highly Active ; Body Mass Index ; CD4 Lymphocyte Count ; China/epidemiology* ; HIV Infections/drug therapy* ; Humans ; Linear Models ; Marital Status ; Nutritional Status ; T-Lymphocytes

Objective: To explore the association between nuclear factor kappa-light-chain-enhancer of activated genetic polymorphisms in B cells (NF-κB) and the HCV susceptibility, among the Chinese population. Methods: A total of 1 679 participants were enrolled; including 503 drug users and 1 176 other participants at risk under the exposure for blood. By using the logistic regression analysis, related risk factors for HCV infection among subjects were analyzed. Two NF-κB pathway variants, NF-κB1 rs72696119 and REL rs13031237 were then genotyped by TaqMan assay method. Logistic regression analysis was performed to analyze the association between gene polymorphisms and the susceptibility on HCV. Results: Among the drug users, women (OR=0.408, 95%CI: 0.308-0.767) appeared to be associated with the decreased risk for HCV infection, while factors as drug injection (OR=8.817, 95%CI: 5.577-13.937) and the duration of drug-intake >5.5 years (OR=2.891, 95%CI: 1.824-4.583) were associated with the increased risk for HCV infection. Among the participants who had been exposed to blood, women (OR=3.431, 95%CI: 2.360-4.988) were associated with the increased risk for HCV infection, while the levels of education beyond elementary school (OR=0.613, 95%CI: 0.429-0.876) were associated with the decreased risk for HCV infection. Compared to the reference NF-κB1 rs72696119 CC genotype, the carriage of GG genotype was associated with an increased risk of susceptibility on HCV (OR=1.412, 95%CI: 1.035-1.927) among the total study population. Results from the interaction analysis showed that there was no interactive effects appeared between rs72696119 and route of infection, or between rs72696119 and gender among the total population under study (all P>0.05). Conclusion: NF-κB1 polymorphism rs72696119 and related factors seemed associated with the susceptibility to HCV infection among high-risk Chinese populations.
Asian People/genetics* ; B-Lymphocytes ; Case-Control Studies ; China/epidemiology* ; Female ; Genetic Predisposition to Disease ; Hepatitis C/genetics* ; Humans ; Male ; Middle Aged ; NF-kappa B/genetics* ; Polymorphism, Single Nucleotide

Objective: To describe the study design, the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study. Methods: Fujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank. A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018, including questionnaire survey, physical and biochemical indicators examinations, and blood sample collection in adults aged ≥18 years. In addition, family relationship of the participants was also recorded. The pedigree information of the juveniles under 18 years old were also collected. Results: The baseline survey included 2 727 individuals in two clans, of whom 2 373 (87.0%) were adults, and 2 126 participants completed questionnaires, physical examinations and biochemical tests. The average age of the 2 126 participants was (57.9±13.3) years, with 39.4% being males. The current smoking rates in male and female participants were 41.2% and 2.1%, respectively. The corresponding rates of current alcohol consumption were 19.0% and 2.6%. For common chronic diseases, the prevalence rates were 51.3% for hypertension, 9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses, health examination results and biochemical examination results in class Ⅱ or Ⅲ hospitals. Based on the family relationship information and genealogical data, 710 pedigrees were finally identified, consisting of 5 087 family members. The numbers of five, four, three, and two generations pedigrees were 3, 88, 238 and 381, respectively. The pairs of the first to the fifth degree relatives were 12 039, 2 662, 1 511, 202 and 31, respectively. Conclusion: The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors, environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.
Adolescent ; Adult ; Aged ; China/epidemiology* ; Chronic Disease/ethnology* ; Cohort Studies ; Diabetes Mellitus/ethnology* ; Family Health ; Female ; Gene-Environment Interaction ; Genetic Predisposition to Disease/ethnology* ; Humans ; Hyperlipidemias/ethnology* ; Hypertension/ethnology* ; Male ; Middle Aged ; Pedigree ; Prospective Studies ; Risk Factors ; Surveys and Questionnaires

Family-based cohort study is a special type of study design, in which biological samples and environmental exposure information of the member in a family are collected and related follow up is conducted. Family-based cohort study can be applied to explore the effect of genetic factors, environmental factors, gene-gene interaction, and gene-environment interaction in the etiology of complex diseases. This paper summarizes the objectives, methods and results, as well as the opportunities and challenges of the family-based cohort study on common chronic non-communicable diseases in rural population in northern China.
China/epidemiology* ; Chronic Disease/ethnology* ; Cohort Studies ; Female ; Gene-Environment Interaction ; Humans ; Male ; Middle Aged ; Noncommunicable Diseases/ethnology* ; Research Design ; Rural Population

Objective: To assess the prevalence of blood donation and associated factors in men who have sex with men (MSM) in China. Methods: Our observational study was conducted between January and August, 2017 in 3 cities: Guangzhou, Shenzhen and Wuxi. Eligible participants were MSM (≥18 years old) who had either ≥2 male sex partners or unprotected anal sex with casual partners, or had been diagnosed with STI in the past 6 months. A self-completed tablet-based questionnaire was used to collect the information about MSM's socio-demographic characteristics, sexual behaviors and blood donation history. Results: A total of 603 MSM were enrolled in our study, including 302 in Guangzhou, 152 in Shenzhen and 149 in Wuxi, with a mean age of 27.9 years (SD=7.8). Overall, 29.2% (176/603) of the MSM reported a history of blood donation, and 33.1% (100/302)in Guangzhou, 27.6% (42/152) in Shenzhen and 22.8% (34/149) in Wuxi, the differences were not significant (χ(2)=6.421, P=0.093). Multivariate logistic regression analysis indicated that MSM had ever tested for HIV for ≥2 times in the past 12 months (vs. MSM tested for HIV one time, aOR=1.49, 95%CI: 1.08-2.19) or who had ever used gay dating app (vs. MSM who not used gay dating app, aOR=2.13, 95%CI: 1.12-4.44) were more likely to donate blood. Conclusions: Blood donation was common in MSM in China. Health education about blood donation in MSM should be strengthened to ensure the blood safety.
Adolescent ; Adult ; Blood Donors ; China ; Cities ; Cross-Sectional Studies ; Homosexuality, Male/statistics & numerical data* ; Humans ; Male ; Sexual Behavior ; Sexual Partners ; Surveys and Questionnaires