1.Preterm birth trends and risk factors in a multi-ethnic Asian population: A retrospective study from 2017 to 2023, can we screen and predict this?
Rachel Phoy Cheng CHUN ; Hiu Gwan CHAN ; Gilbert Yong San LIM ; Devendra KANAGALINGAM ; Pamela PARTANA ; Kok Hian TAN ; Tiong Ghee TEOH ; Ilka TAN
Annals of the Academy of Medicine, Singapore 2025;54(5):296-304
INTRODUCTION:
Preterm birth (PTB) remains a leading cause of perinatal morbidity and mortality worldwide. Understanding Singapore's PTB trends and associated risk factors can inform effective strategies for screening and intervention. This study analyses PTB trends in Singapore from 2017 to 2023, identifies risk factors in this multi-ethnic population and evaluates a predictive model for PTB.
METHOD:
A retrospective analysis of all PTBs between 22+0 and 36+6 weeks of gestation, from 1 January 2017 to 31 December 2023, was performed by extracting maternal and neonatal data from electronic medical records. These PTBs were taken from the registry of births for Singapore and SingHealth cluster data. Cochran- Armitage trend test and multinomial logistic regression were used. An extreme gradient boosting (XGBoost) model was developed to test and predict the risk of PTB.
RESULTS:
The PTB rate in Singapore did not show a significant change. However, there was modest downward trend in the SingHealth population from 11.3% to 10.2%, mainly in late spontaneous PTBs (sPTBs). sPTBs accounted for ∼60% of PTBs. Risk factors for very/extreme sPTB included Chinese ethnicity, age ≥35 years, body mass index (BMI) ≥23 kg/m2, being unmarried, primiparity, twin pregnancy and maternal blood group AB. The XGBoost model achieved an area under the receiver operating characteristic curve of 0.75, indicating moderate ability to predict PTB.
CONCLUSION
The overall PTB rate in Singapore has not improved. This study underscores the importance of local factors, particularly advanced maternal age, BMI, primiparity, unmarried, Chinese ethnicity and maternal blood group AB influencing PTB risk. Artificial intelligence methods show promise in improving PTB risk stratification, ultimately supporting personalised care and intervention.
Humans
;
Singapore/epidemiology*
;
Retrospective Studies
;
Female
;
Risk Factors
;
Premature Birth/ethnology*
;
Pregnancy
;
Adult
;
Infant, Newborn
;
Asian People/statistics & numerical data*
;
Gestational Age
;
Body Mass Index
;
Maternal Age
;
Logistic Models
;
Ethnicity
2.Distribution of MN blood type among China's minority ethnic groups.
Wenwen WANG ; Ping CHEN ; Aowei SONG ; Wenhua WANG ; Jiameng NIU ; Lili XING ; Jiangcun YANG ; Yang SUN ; Chao ZHANG
Chinese Journal of Cellular and Molecular Immunology 2025;41(1):51-56
Objective This study aims to investigate and analyze the distribution of MN blood type among ethnic minorities in China. Methods Through a systematic retrieval of the 981 literature related to MN blood group distribution, 120 literature, meeting the criteria of this study, with complete data were selected. The literature covers 49 ethnic minorities. SPSS 26 statistical software was used to analyze the data. Results The results showed that among the 49 ethnic minorities in China, the phenotype distribution of MN blood type was MN>MM>NN, with proportions of 42.54%, 41.86%, and 15.06% respectively. The gene frequency for MN blood type exhibited a trend of m>n, with a gene frequency of m being 0.6313 and n being 0.3687. Cluster analysis divided the Chinese ethnic minorities into three groups based on the gene frequency for m, showing the characteristics of Group I>Group II>Group III. Conclusion The MN blood type characteristics in Chinese ethnic minorities show a higher frequency of the M gene compared to the N gene. The frequency of the M gene is higher in southern ethnic minorities than in northern ones. There are significant differences between southwestern ethnic minorities and the Han nationality, but no differences with long-term mixed/settled Han populations.
Humans
;
China/ethnology*
;
Minority Groups
;
Ethnicity/genetics*
;
Gene Frequency
;
Asian People/genetics*
;
Blood Group Antigens/genetics*
3.A Preliminary Study on Genetic Polymorphism of 12 Rare Blood Group of Dongxiang Nationality in Gansu Province.
Jia-Dong DING ; Yi-Yuan WANG ; Xiao-Ping ZHANG
Journal of Experimental Hematology 2025;33(2):552-556
OBJECTIVE:
To detect the alleles of 12 blood group systems (Rh, MNS, Duffy, Kidd, Kell, Diego, Dombrock, Yt, Colton, Scianna, Lutheran and Lw) of Dongxiang ethnic group in Gansu province, and understand the characteristics of rare blood group alleles common in Dongxiang ethnic group, in order to provide a basis for safe blood transfusion and the establishment of blood group gene bank.
METHODS:
The alleles of 12 blood group systems were classified by polymerase chain reaction (PCR) in 100 people from Dongxiang ethnic group in Gansu province, and the differences of gene frequency compared to other areas in China were analyzed.
RESULTS:
The allele frequencies of Rh, MNS, and Dombrock blood group systems of Dongxiang ethnic group in Gansu province were similar to northern regions. The Duffy blood group system exhibited specificity, with frequencies lower than most southern regions as well as northern regions. There were no significant differences in Kidd, Kell and Diego blood group systems compared to other regions in China. The Lua gene frequency of Lutheran blood group system was higher than all regions in China, which might be associated with genetic variation or sample selection and size. Yt, Colton, Scianna and Lw blood group genes showed monomorphic distribution, and the genotypes were YtaYta, CoaCoa, Sc1Sc1 and LwaLwa, respectively.
CONCLUSION
Rh, MNS, Duffy, Kidd, Kell, Diego, Dombrock and Lutheran blood group systems show polymorphic distribution, while Yt, Colton, Scianna and Lw blood group systems show monomorphic distribution. The distribution of blood group genes among Dongxiang ethnic group in Gansu province has its own specificity.
Humans
;
China/ethnology*
;
Polymorphism, Genetic
;
Blood Group Antigens/genetics*
;
Gene Frequency
;
Alleles
;
Asian People/genetics*
;
Ethnicity/genetics*
;
Genotype
;
Female
4.The Frequency Difference of Red Blood Cell Group Gene Haplotypes among Han, Indian and Uyghur Populations in Shenzhen Region.
Tong LIU ; Jin QIU ; Fan WU ; Yan-Lia LIANG ; Li-Yan SUN ; Zhi-Hui DENG ; Shuang LIANG
Journal of Experimental Hematology 2025;33(3):863-868
OBJECTIVE:
To study the genetic polymorphism of red blood cell blood group among in Shenzhen Han, Indian and Xinjiang Uyghur populations, to provide scientific basis for the demand prediction and collection strategy of rare blood group, and to explore the genetic differences of blood group between Han and Caucasians.
METHODS:
The haplotypes of antigen coding genes of 10 target blood group systems from 87 Han Chinese and 50 Indian blood donors in Shenzhen, and 49 healthy Uyghur people in Xinjiang were obtained by three-generation sequencing technology, and the polymorphism and frequency characteristics were analyzed.
RESULTS:
Only a single genotype was detected the Langereis and Vel blood group systems in samples from three different populations. Only one genotype of Dombrock blood group was detected in Shenzhen Han, and Junior blood group in Xinjiang Uygur populations. In the MNS, Duffy, Kidd, Dombrock and Junior blood group systems, the haplotype frequency of Indian and Uyghur people was significantly different from that of Han people. Compared with the Han ethnic group, the rare blood group s-, Fy(a-), Jk(a-b-), and Do(a+b-) have a higher frequency among the Uyghur and Indian populations.
CONCLUSION
Haplotype frequencies of antigen genes for MNS, Duffy, Kidd, Dombrock and Junior blood group system in Shenzhen Han, Indian and Uyghur populations displayed a polymorphic difference with unique distribution characteristics different from the ethnic groups in other regions.
Humans
;
Blood Group Antigens/genetics*
;
China/ethnology*
;
Erythrocytes
;
Ethnicity/genetics*
;
Gene Frequency
;
Genotype
;
Haplotypes
;
India/ethnology*
;
Polymorphism, Genetic
;
White People/genetics*
;
Central Asian People/genetics*
;
East Asian People/genetics*
5.Five novel ZNF469 gene mutations in sporadic keratoconus patients in the Han Chinese population.
Yanna CAO ; Zhihong DENG ; Guiyun HE ; Li XIAO ; Feng ZHANG ; Feng SU
Journal of Central South University(Medical Sciences) 2025;50(6):931-939
OBJECTIVES:
Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population.
METHODS:
Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis.
RESULTS:
Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC.
CONCLUSIONS
Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
Adolescent
;
Adult
;
Female
;
Humans
;
Male
;
Case-Control Studies
;
China/ethnology*
;
Exome Sequencing
;
Genetic Predisposition to Disease
;
Keratoconus/genetics*
;
Mutation
;
Mutation, Missense
;
Transcription Factors/genetics*
;
East Asian People/genetics*
6.Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel.
Hongling ZHANG ; Changyun GU ; Qiyan WANG ; Xiaolan HUANG ; Qianchong RAN ; Zheng REN ; Yubo LIU ; Yansha LUO ; Shuaiji PAN ; Meiqing YANG ; Jingyan JI ; Xiaoye JIN
Journal of Southern Medical University 2025;45(7):1442-1450
OBJECTIVES:
To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations.
METHODS:
Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction.
RESULTS:
Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10-41 and 1-7.64×10-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China.
CONCLUSIONS
The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans
;
China/ethnology*
;
Ethnicity/genetics*
;
Forensic Genetics/methods*
;
Genetics, Population
;
Genotype
;
Haplotypes
;
Phylogeny
;
East Asian People/genetics*
7.Relationship between traditional Chinese cultural beliefs and suicide risk among Chinese medical postgraduate students.
Journal of Southern Medical University 2024;44(12):2382-2387
OBJECTIVES:
To study the relationship between traditional Chinese cultural beliefs and suicide risk in Chinese medical postgraduate students.
METHODS:
The Chinese Traditional Cultural Belief Scale (CTCBS) and Suicidal Behavior Questionnaire (SBQ-R) were used to investigate 541 medical postgraduate students in a medical university.
RESULTS:
The total score of traditional Chinese cultural belief of the medical postgraduate students was 49.68±6.85, and 66.9% of them had a clear cultural belief. The detection rate of suicide risk among the medical postgraduates was 15.7%, and 20.1% of them reported suicidal ideation within the past year. Traditional Chinese cultural belief was negatively correlated with suicide risk among the medical postgraduates (r=-0.210, P<0.001), and those with higher levels of cultural belief had lower SBQ-R scores (F=6.255, P<0.01). The medical postgraduates with lower cultural beliefs had a higher detection rate of suicide risk (28.6% vs 21.2% vs 12.7%). The students with high suicide risks had significantly lower total scores and all the dimension scores of CTCBS (P<0.001).
CONCLUSIONS
Most medical postgraduates have clear traditional Chinese cultural beliefs, which can be beneficial to reduce suicide risk among the students.
Humans
;
Students, Medical/psychology*
;
Surveys and Questionnaires
;
Suicide/psychology*
;
Suicidal Ideation
;
China/ethnology*
;
Culture
;
Female
;
Male
;
Risk Factors
;
Adult
;
Young Adult
;
East Asian People
8.Regression Algorithm of Bone Age Estimation of Knee-joint Based on Principal Component Analysis and Support Vector Machine.
Yi Yang LEI ; Yu Shu SHEN ; Ya Hui WANG ; Hu ZHAO
Journal of Forensic Medicine 2019;35(2):194-199
Objective To establish a regression algorithm model that applies to bone age estimation of Xinjiang Uygur adolescents with machine learning methods such as histogram of oriented gradient (HOG), local binary patterns (LBP), support vector machine (SVM), principal component analysis (PCA). Methods DR images of knee-joints from 275 male and 225 female subjects aged 12.0-<19.0 years old were collected, PCA method was used to reduce the dimensionality of the HOG and LBP features, and support vector regression (SVR) was used to establish a knee-joint bone age estimation algorithm model. Stratified random sampling method was used to select 215 male samples, 180 female samples for the model training set. K-fold cross validation method was used to optimize parameters of the model. The remaining samples as the independent test set was used to compare the sample's true age and model estimated age, and had an accuracy rate in the statistical error range of ±0.8 and ±1.0 years, respectively. Then the mean absolute error (MAE) and root mean square error (RMSE) were calculated. Results The accuracy rate of male in the statistical error range of ±0.8 and ±1.0 year was 80.67%, 89.33%, respectively. The MAE and RMSE were 0.486 and 0.606 years, respectively. The accuracy rate of female in the statistical error range of ±0.8 and ±1.0 years was 80.19%, 90.45%, respectively. The MAE and RMSE were 0.485 and 0.590 years, respectively. Conclusion Establishment of prediction model for bone age estimation by feature dimension reduction of HOG and LBP in DR images of knee-joint based on PCA and SVM has relatively high accuracy.
Adolescent
;
Adult
;
Age Determination by Skeleton/methods*
;
Algorithms
;
Asian People/ethnology*
;
China
;
Female
;
Humans
;
Image Processing, Computer-Assisted
;
Knee Joint/diagnostic imaging*
;
Machine Learning
;
Male
;
Principal Component Analysis
;
Support Vector Machine
;
Young Adult
9.Relationship between educational level and long-term changes of body weight and waist circumference in adults in China.
Y L TAN ; Z W SHEN ; C Q YU ; Y GUO ; Z BIAN ; P PEI ; H D DU ; J S CHEN ; Z M CHEN ; J LYU ; L M LI
Chinese Journal of Epidemiology 2019;40(1):26-32
Objective: To evaluate the association of educational level with anthropometric measurements at different adult stages and their long-term changes in adults who participated in the second re-survey of China Kadoorie Biobank (CKB). Methods: The present study excluded participants who were aged >65 years, with incomplete or extreme measurement values, or with major chronic diseases at baseline survey or re-survey. The weight at age 25 years was self-reported. Body height, body weight and waist circumference at baseline survey (2004-2008) and re-survey (2013-2014) were analyzed. Results: The present study included 3 427 men and 6 320 women. Both body weight and waist circumference (WC) increased with age. From age 25 years to baseline survey (mean age 45.2±6.5), the mean weight change per 5-year was (1.70±2.63) kg for men and (1.27±2.10) kg for women. From baseline survey to re-survey (53.2±6.5), the mean changes per 5-year for body weight were (1.12±2.61) kg for men and (0.90±2.54) kg for women; and that for WC was (3.20±3.79) cm for men and (3.83±3.85) cm for women. Among women, low educational level was consistently associated with higher body mass index (BMI) and WC at age 25 years, baseline survey and re-survey. Among men, low educational level was associated with higher BMI at age 25 years. At baseline survey and re-survey, the educational level in men was not statistically associated with BMI; but men who completed junior or senior high school showed slight higher WC and increase of WC from baseline survey to re-survey than other male participants. Conclusions: Body weight and WC increased with age for both men and women. The associations of educational level with BMI and WC were different between men and women.
Adult
;
Asian People/statistics & numerical data*
;
Body Height
;
Body Mass Index
;
Body Weight
;
China/epidemiology*
;
Educational Status
;
Female
;
Humans
;
Male
;
Middle Aged
;
Obesity/ethnology*
;
Risk Factors
;
Sex Distribution
;
Waist Circumference/ethnology*
10.Sex-specific associations between tobacco smoking and risk of cardiovascular diseases in Chinese adults.
Qian SHEN ; Nan Bo ZHU ; Can Qing YU ; Yu GUO ; Zheng BIAN ; Yun Long TAN ; Pei PEI ; Jun Shi CHEN ; Zheng Ming CHEN ; Jun LYU ; Li Ming LI
Chinese Journal of Epidemiology 2018;39(1):8-15
Objective: To examine the sex-specific associations between tobacco smoking and risk of cardiovascular diseases in Chinese adults. Methods: The present analysis included 487 373 participants from the China Kadoorie Biobank after excluding those with cancer, heart diseases, stroke at baseline survey. The baseline survey was conducted from June 2004 to July 2008. The number of follow-up years was calculated from the time that the participants completed baseline survey to the time of any event: CVD incidence, death, loss of follow-up, or December 31, 2015, whichever occurred first. We used Cox proportional hazards regression models to estimate the HRs and 95%CI of incident cardiovascular diseases with tobacco smoking. Results: During a median follow-up of 8.9 years(a total of 4.1 million person years), we documented 33 947 cases of ischemic heart diseases, 6 048 cases of major coronary diseases, 7 794 cases of intracerebral hemorrhage, and 31 722 cases of cerebral infarction. The prevalence of smoking was much higher in men (67.9%) than in women (2.7%). Smoking increased risk of all subtypes of cardiovascular diseases. Compared with nonsmokers, the multivariable-adjusted HRs (95% CI) for current smokers were 1.54 (1.43-1.66) for major coronary event, 1.28 (1.24-1.32) for ischemic heart disease, 1.18 (1.14-1.22) for cerebral infarction, and 1.07 (1.00-1.15) for intracerebral hemorrhage, respectively. Female smokers tended to have greater risk of developing major coronary event associated with amount of tobacco smoked daily (interaction P=0.006) and age when smoking started (interaction P=0.011). There was no sex difference in these two effects for ischemic heart diseases, intracerebral hemorrhage and cerebral infarction (all interaction P>0.05). Conclusions: This prospective study confirmed increased risk of all subtypes of cardiovascular diseases in current smokers. Smoking was more harmful to women than to men for major coronary event.
Adult
;
Asian People/statistics & numerical data*
;
Cardiovascular Diseases/epidemiology*
;
China/epidemiology*
;
Female
;
Humans
;
Incidence
;
Male
;
Neoplasms/epidemiology*
;
Prevalence
;
Prospective Studies
;
Risk Factors
;
Smoking/ethnology*
;
Smoking Cessation
;
Stroke/epidemiology*
;
Tobacco Smoking/adverse effects*

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