1.Disparities in ethnicity and metabolic disease burden in referrals to nephrology.
Yan Ting CHUA ; Cheang Han LEO ; Horng Ruey CHUA ; Weng Kin WONG ; Gek Cher CHAN ; Anantharaman VATHSALA ; Ye Lu Mavis GAN ; Boon Wee TEO
Singapore medical journal 2025;66(6):301-306
INTRODUCTION:
The profile of patients referred from primary to tertiary nephrology care is unclear. Ethnic Malay patients have the highest incidence and prevalence of kidney failure in Singapore. We hypothesised that there is a Malay predominance among patients referred to nephrology due to a higher burden of metabolic disease in this ethnic group.
METHODS:
This is a retrospective observational cohort study. From 2014 to 2018, a coordinator and physician triaged patients referred from primary care, and determined co-management and assignment to nephrology clinics. Key disease parameters were collated on triage and analysed.
RESULTS:
A total of 6,017 patients were studied. The mean age of patients was 64 ± 16 years. They comprised 57% men; 67% were Chinese and 22% were Malay. The proportion of Malay patients is higher than the proportion of Malays in the general population (13.4%) and they were more likely than other ethnicities to have ≥3 comorbidities, including diabetes mellitus, hypertension, hyperlipidaemia, coronary artery disease and stroke (70% vs. 57%, P < 0.001). Malay and Indian patients had poorer control of diabetes mellitus compared to other ethnicities (glycated haemoglobin 7.8% vs. 7.4%, P < 0.001). Higher proportion of Malay patients compared to other ethnicities had worse kidney function with estimated glomerular filtration rate (eGFR) <30 mL/min/1.73 m 2 on presentation (28% vs. 24%, P = 0.003). More ethnic Malay, Indian and younger patients missed appointments.
CONCLUSION
A disproportionately large number of Malay patients are referred for kidney disease. These patients have higher metabolic disease burden, tend to miss appointments and are referred at lower eGFR. Reasons underpinning these associations should be identified to facilitate efforts for targeting this at-risk population, ensuring kidney health for all.
Humans
;
Male
;
Female
;
Retrospective Studies
;
Middle Aged
;
Singapore/epidemiology*
;
Referral and Consultation/statistics & numerical data*
;
Aged
;
Nephrology
;
Glomerular Filtration Rate
;
Metabolic Diseases/epidemiology*
;
Ethnicity
;
Diabetes Mellitus/epidemiology*
;
Malaysia/ethnology*
;
Adult
2.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
3.Fourth national survey of traditional Chinese medicine resources and protection of traditional knowledge of medication use among ethnic minorities.
Jiang-Wei DU ; Xiao-Bo ZHANG ; Jian-Zhi CUI ; Shao-Hua YANG ; Hai-Tao LI ; Zhi-Yong LI ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2025;50(9):2349-2355
Traditional Chinese medicine(TCM) resources are the essential material foundation for the development of TCM. The national survey of TCM resources serves as a periodic summary of these resources, ensuring the continuity, prosperity, and development of TCM in China. Since 1949, four national surveys of TCM resources have been conducted. The fourth survey incorporated an investigation into traditional knowledge related to TCM resources, including the traditional medicinal knowledge of Chinese ethnic minorities, with the goal of systematically exploring, preserving, and inheriting this knowledge. This manuscript provides an overview of the basic findings from the first three national surveys of TCM resources, while also clarifying the concepts, categories, forms, carriers, and acquisition pathways of traditional knowledge related to TCM resources. A preliminary summary of the findings from traditional knowledge investigations reported in current literature is also presented. Based on the fourth survey, this manuscript emphasizes the urgency of developing public medical knowledge through empirically-based investigations, the excavation, and compilation of traditional knowledge. It also outlines the potential for conducting "precise" investigations based on first-hand data obtained from the survey, as well as facilitating the discovery and evaluation of new medicines using traditional knowledge related to ethnic minority medicinal practices. This manuscript is expected to provide valuable insights for promoting the health and industrial development of ethnic minority populations in the post-"survey" phase.
Humans
;
Medicine, Chinese Traditional
;
China/ethnology*
;
Minority Groups
;
Ethnicity
;
Drugs, Chinese Herbal/therapeutic use*
;
Health Knowledge, Attitudes, Practice/ethnology*
;
Surveys and Questionnaires
4.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*
5.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
6.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*
7.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*
8.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*
9.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
10.Polymorphisms of the Vitamin D Receptor Gene and Sex-Differential Associations with Lipid Profiles in Chinese Han Adults.
Yan Mei CHEN ; Ping XU ; Zhou Tian WANG ; Yu Mei ZHU ; Chun Mei GONG ; Chang Hua HUANG ; Xiao Li LIU ; Ji Chang ZHOU
Biomedical and Environmental Sciences 2022;35(2):115-125
OBJECTIVE:
To explore the association of single nucleotide polymorphisms (SNPs) of the vitamin D receptor gene ( VDR) with circulating lipids considering gender differences.
METHODS:
Of the Han Chinese adults recruited from a health examination center for inclusion in the study, the circulating lipids, 25-hydroxyvitamin D (25OHD), and other parameters were measured. The VDR SNPs of Cdx2 (rs11568820), Fok1 (rs2228570), Apa1 (rs7975232), and Taq1 (rs731236) were genotyped with a qPCR test using blood DNA samples, and their associations with lipids were analyzed using logistic regression.
RESULTS:
In the female participants ( n = 236 with dyslipidemia and 888 without dyslipidemia), multiple genotype models of Fok1 indicated a positive correlation of B (not A) alleles with LDLC level ( P < 0.05). In the male participants ( n = 299 with dyslipidemia and 564 without dyslipidemia), the recessive model of Cdx2 and the additive and recessive models of Fok1 differed ( P < 0.05) between the HDLC-classified subgroups, respectively, and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC ( P < 0.05).
CONCLUSION
In the Chinese Han adults included in the study, the Fok1 B-allele of VDR was associated with higher LDLC in females, and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males. The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels.
Adult
;
Alleles
;
Asians/genetics*
;
China/ethnology*
;
Dyslipidemias/genetics*
;
Female
;
Genetic Predisposition to Disease/genetics*
;
Genotype
;
Humans
;
Lipids/blood*
;
Male
;
Middle Aged
;
Polymorphism, Single Nucleotide
;
Receptors, Calcitriol/genetics*
;
Sex Factors
;
Vitamin D/blood*

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