1.gwasfilter: an R script to filter genome-wide association study
Songchun YANG ; Chongyang LI ; Yizhen HU ; Qiufen SUN ; Jianqiao PAN ; Dianjianyi SUN ; Baoshan MA ; Jun LYU ; Liming LI
Chinese Journal of Epidemiology 2021;42(10):1876-1881
Objective:To develop an R script that can efficiently and accurately filter genome-wide association studies (GWASs) from the GWAS Catalog Website.Methods:The selection principles of GWASs were established based on previous studies. The process of manual filtering in the GWAS Catalog was abstracted as standard algorithms. The R script (gwasfilter.R) was written by two programmers and tested many times.Results:It takes six steps for gwasfilter.R to filter GWASs. There are five main self-defined functions among this R script. GWASs can be filtered based on "whether the GWAS has been replicated" "sample size" "ethnicity of the study population" and other conditions. It takes no more than 1 second for this script to filter GWASs of a single trait.Conclusions:This R script (gwasfilter.R) is user-friendly and provides an efficient and standard process to filter GWASs flexibly. The source code is available at github ( https://github.com/lab319/gwas_filter).
2.Family History, Tobacco Smoking, and Risk of Ischemic Stroke
Mengyu FAN ; Jun LV ; Canqing YU ; Yu GUO ; Zheng BIAN ; Songchun YANG ; Ling YANG ; Yiping CHEN ; Feifei LI ; Yaoming ZHAI ; Ping WANG ; Junshi CHEN ; Zhengming CHEN ; Lu QI ; Liming LI ;
Journal of Stroke 2019;21(2):175-183
BACKGROUND AND PURPOSE: Both genetic factors and smoking are associated with ischemic stroke (IS) risk. However, little is known about the potential interaction of these factors. We aimed to assess whether smoking and a positive family history interact to increase the risk of IS. METHODS: The nationwide prospective study recruited 210,000 men and 300,000 women in 2004 to 2008 at ages 30 to 79 years. During 9.7 years of follow-up, we documented 16,923 and 20,656 incident IS cases in men and women without major chronic diseases at baseline, respectively. Multivariable Cox regression models were used to examine associations between family history and IS. Likelihood ratio tests were used to test the smoking-family history interactions on IS. RESULTS: About 67.8% (n=135,168) of men ever smoked regularly compared with 2.7% (n=7,775) of women. Among men, a significant interaction between family history and smoking on IS was observed (P for interaction=0.03), with more pronounced association between family history and IS among ever-regular smokers (hazard ratio [HR], 1.21; 95% confidence interval [CI], 1.16 to 1.27) than among never-smokers (HR, 1.11; 95% CI, 1.01 to 1.23). The association between family history and IS among ex-smokers after more than 10 years of cessation (HR, 1.01; 95% CI, 0.85 to 1.20) appeared similar to that among never-smokers. Among women, a similar but not significant interaction between family history and smoking on IS was observed. Ever-regular smokers who had a family history of stroke had the highest risk of IS. CONCLUSIONS: Among Chinese men, the association of family history with IS was accentuated by smoking, and such accentuation tended to be lowered by cessation.
Asian Continental Ancestry Group
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Chronic Disease
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Cohort Studies
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Family Health
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Female
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Follow-Up Studies
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Gene-Environment Interaction
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Humans
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Male
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Prospective Studies
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Smoke
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Smoking
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Stroke
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Tobacco
3. New progress in epidemiological research
Songchun YANG ; Jun LYU ; Liming LI
Chinese Journal of Epidemiology 2020;41(1):1-5
Epidemiology is a discipline integrating methodology and applied science, whose mission is to prevent and control diseases and promote health. This review introduces the new progress of epidemiology from five aspects: communicable diseases, chronic diseases, systems epidemiology, implementation research and big data of health care. New projects and constantly emerging technologies in the field of infectious diseases are inspiring, while more attention should be paid to the environmental factors of pathogen variation. In the field of chronic diseases, there is an urgent need to study the multimorbidity of the elderly. The role of infectious inducers and human microbiota in the occurrence and development of chronic diseases has been gradually revealed. Systems epidemiology, which is of great significance to achieve precision prevention is a new branch and an important supplement of modern epidemiology. Implementation research, is a bridge connecting basic scientific research and public health practice and will provide evidence to support the effective implementation of the Health China Action Plan. The development of health care big data is based on digital public health, which provides a broad research platform and abundant data resources for epidemiology, and will promote the fundamental transformation of the service and management mode of public health.
4.Association between perceived built environment attributes and adults’ leisure-time physical activity in four cities of China
Yinjuan DUAN ; Songchun YANG ; Yuting HAN ; Junning FAN ; Shaojie WANG ; Xianping WU ; Min YU ; Jinyi ZHOU ; Xiaocao TIAN ; Xinyin XU ; Mingbin LIANG ; Yujie HUA ; Lu CHEN ; Canqing YU ; Wenjing GAO ; Weihua CAO ; Jun LYU ; Liming LI
Chinese Journal of Epidemiology 2020;41(8):1280-1285
Objective:To explore the associations between perceived built environment attributes and adults’ leisure-time physical activity in four cities of China.Methods:Multistage cluster random sampling method was used to select adults aged 25 to 64 in Hangzhou, Suzhou, Chengdu, and Qingdao. Data were collected from June 2017 to July 2018. The perception of the urban built environment was assessed by the neighborhood environment walkability scale-abbreviated (NEWS-A), and the physical activity was assessed by the International Physical Activity Questionnaire. Generalized linear mixed models were used to explore the relationship between the perceived built environment and leisure-time physical activities.Results:A total of 3 789 participants were included in the analysis. After adjusting for potential confounders, better access to public services ( OR=1.34, 95% CI: 1.02-1.75) and higher aesthetic quality ( OR=1.37, 95% CI: 1.09-1.73) were positively associated with the possibility of engaging in leisure-time physical activity in the past week. Similarly, these two attributes were positively associated with leisure-time walking. Higher scores on the perception of street connectivity were positively associated with leisure-time walking [ exp( β)=1.09, 95% CI: 1.00-1.19]. Higher residential density [ exp( β)=1.000 4, 95% CI:1.000 0-1.000 8], better access to physical activity destinations[ exp( β)=1.09, 95% CI: 1.00-1.19], and better aesthetics [ exp( β)=1.11, 95% CI:1.00-1.22] were associated with higher leisure-time physical activity. Similarly, these three attributes were positively associated with the possibility of meeting the WHO recommendations. Conclusion:Changing some urban built environment attributes may increase leisure-time physical activity.
5.Transitions on frailty status and related risk factors for its status worsening: finding from the Beijing MJ Health Screening Center
Junning FAN ; Songchun YANG ; Zhijia SUN ; Han WANG ; Yuan MA ; Bo WANG ; Canqing YU ; Yi NING ; Jun LYU ; Liming LI
Chinese Journal of Epidemiology 2021;42(8):1453-1459
Objective:To evaluate the transitions of frailty status and related factors influencing its worsening in middle-aged and elderly adults.Methods:Data was obtained from the Beijing MJ Health Screening Center. A total of 13 689 participants who attended health checkups at least twice during 2008-2019 and had more than three years' intervals during these two health checkups were included in the study. The frailty index comprising 28 variables was used to measure frailty status. Frailty was defined as frailty index ≥0.25, and prefrailty was defined as frailty index >0.10 and <0.25. Logistic regression analysis was performed to investigate the association of socio-demographic factors and lifestyle characteristics with the worsening of frailty status, stratified by frailty status at the first health checkup.Results:The mean age at the first and last health checkups were (42.3±9.2) and (47.9±9.3) years, respectively. The mean interval during these two health checkups was (5.7±1.9) years. At the first health checkup, the prevalence of frailty and prefrailty were 2.5% and 50.3%, respectively. While at the last health checkup, the prevalence of frailty and prefrailty rose to 3.9% and 55.4%. Of all participants, 67.3% remained in the same frailty state, 21.2% worsening, and 12.5% improving. In robust participants at the first health checkup, older age, female, low education level, smoking cessation, daily smoking, being general obesity measured by BMI or central obesity measured by WHR showed an increased the risk of worsening frailty status. However, in prefrail participants at the first health checkup, older age, female, general, or central obesity presented as risk factors for worsening frailty status.Conclusion:Modifiable factors such as low education level, smoking, and obesity may increase the risk of worsening frailty status.
6. Frequency of bowel movements and risk of Parkinson’s disease: a prospective cohort study in adults in China
Songchun YANG ; Mengyu FAN ; Canqing YU ; Yu GUO ; Zheng BIAN ; Pei PEI ; Junshi CHEN ; Zhengming CHEN ; Jun LYU ; Liming LI
Chinese Journal of Epidemiology 2020;41(1):48-54
Objective:
To evaluate the association between the frequency of bowel movement (BMF) and the risk of Parkinson’s disease (PD).
Methods:
In this study, 510 134 participants from the China Kadoorie Biobank (CKB) were included after excluding those who reported to had been diagnosed with cancer at baseline survey. The baseline survey was conducted from 2004 to 2008. The study used the data from the baseline survey and follow-up until December 31, 2016. Cox proportional hazards regression models were used to estimate the
7. Association between the frequency of bowel movements and the risk of colorectal cancer in Chinese adults
Songchun YANG ; Zewei SHEN ; Canqing YU ; Yu GUO ; Zheng BIAN ; Yunlong TAN ; Pei PEI ; Yongyue WEI ; Feng CHEN ; Junshi CHEN ; Zhengming CHEN ; Jun LYU ; Liming LI
Chinese Journal of Epidemiology 2019;40(4):382-388
Objective:
To examine the association between the frequencies of bowel movement (BMF) and the risk of colorectal cancer (CRC).
Methods:
In this study, 510 134 participants from the China Kadoorie Biobank (CKB) were included, after excluding those who reported as having been diagnosed with cancer at the baseline survey. The baseline survey was conducted from June 2004 to July 2008. The present study included data from baseline and follow-up until December 31, 2016. We used the Cox proportional hazards regression models to estimate the
8.Minimal improvement in coronary artery disease risk prediction in Chinese population using polygenic risk scores: evidence from the China Kadoorie Biobank.
Songchun YANG ; Dong SUN ; Zhijia SUN ; Canqing YU ; Yu GUO ; Jiahui SI ; Dianjianyi SUN ; Yuanjie PANG ; Pei PEI ; Ling YANG ; Iona Y MILLWOOD ; Robin G WALTERS ; Yiping CHEN ; Huaidong DU ; Zengchang PANG ; Dan SCHMIDT ; Rebecca STEVENS ; Robert CLARKE ; Junshi CHEN ; Zhengming CHEN ; Jun LV ; Liming LI
Chinese Medical Journal 2023;136(20):2476-2483
BACKGROUND:
Several studies have reported that polygenic risk scores (PRSs) can enhance risk prediction of coronary artery disease (CAD) in European populations. However, research on this topic is far from sufficient in non-European countries, including China. We aimed to evaluate the potential of PRS for predicting CAD for primary prevention in the Chinese population.
METHODS:
Participants with genome-wide genotypic data from the China Kadoorie Biobank were divided into training ( n = 28,490) and testing sets ( n = 72,150). Ten previously developed PRSs were evaluated, and new ones were developed using clumping and thresholding or LDpred method. The PRS showing the strongest association with CAD in the training set was selected to further evaluate its effects on improving the traditional CAD risk-prediction model in the testing set. Genetic risk was computed by summing the product of the weights and allele dosages across genome-wide single-nucleotide polymorphisms. Prediction of the 10-year first CAD events was assessed using hazard ratios (HRs) and measures of model discrimination, calibration, and net reclassification improvement (NRI). Hard CAD (nonfatal I21-I23 and fatal I20-I25) and soft CAD (all fatal or nonfatal I20-I25) were analyzed separately.
RESULTS:
In the testing set, 1214 hard and 7201 soft CAD cases were documented during a mean follow-up of 11.2 years. The HR per standard deviation of the optimal PRS was 1.26 (95% CI:1.19-1.33) for hard CAD. Based on a traditional CAD risk prediction model containing only non-laboratory-based information, the addition of PRS for hard CAD increased Harrell's C index by 0.001 (-0.001 to 0.003) in women and 0.003 (0.001 to 0.005) in men. Among the different high-risk thresholds ranging from 1% to 10%, the highest categorical NRI was 3.2% (95% CI: 0.4-6.0%) at a high-risk threshold of 10.0% in women. The association of the PRS with soft CAD was much weaker than with hard CAD, leading to minimal or no improvement in the soft CAD model.
CONCLUSIONS
In this Chinese population sample, the current PRSs minimally changed risk discrimination and offered little improvement in risk stratification for soft CAD. Therefore, this may not be suitable for promoting genetic screening in the general Chinese population to improve CAD risk prediction.
Male
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Humans
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Female
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Coronary Artery Disease/genetics*
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Biological Specimen Banks
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East Asian People
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Risk Assessment/methods*
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Genetic Predisposition to Disease/genetics*
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Risk Factors
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Genome-Wide Association Study