1.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
2.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
3.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
4.Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women
Claudia Ha-ting TAM ; Ying WANG ; Chi Chiu WANG ; Lai Yuk YUEN ; Cadmon King-poo LIM ; Junhong LENG ; Ling WU ; Alex Chi-wai NG ; Yong HOU ; Kit Ying TSOI ; Hui WANG ; Risa OZAKI ; Albert Martin LI ; Qingqing WANG ; Juliana Chung-ngor CHAN ; Yan Chou YE ; Wing Hung TAM ; Xilin YANG ; Ronald Ching-wan MA
Diabetes & Metabolism Journal 2025;49(1):128-143
Background:
The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.
Methods:
We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.
Results:
Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.
Conclusion
Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.
5.Feasibility study of a domestic fully automated NAT system for blood screening in blood donors
Fenglan YAO ; Rui WANG ; Jinghui HU ; Hongwei GE ; Chan LENG ; Yi ZHA ; Zifu ZHAO ; Zhengmin LIU
Chinese Journal of Blood Transfusion 2025;38(7):941-949
Objective: To validate the analytical performance, operational performance, and process control measures of a domestic fully automatic nucleic acid testing (NAT) system, thereby ensuring an efficient and orderly blood screening workflow. Methods: The concordance rate and sensitivity of WanTag-Vortex Plus system were verified using WHO standard reference panels of HIV-1, HCV and HBV, while precision was assessed using weak positive samples of HIV-1, HCV and HBV. As for its operational performance evaluation, cross-contamination resistance was assessed using strong positive samples, and throughput and stress testing were conducted using negative samples. Reagent stability was verified using weak positive samples, and inter-system performance consistency was assessed using verification panels. In addition, the process control measures were verified using the laboratory quality control demand scale. Results: 1) Verification of concordance rate: The detection results of negative and positive samples of HIV-1, HCV and HBV by WanTag-Vortex Plus system were all consistent with expectations, and the concordance rate was 100%. 2) Precision verification: the repeatability and intermediate precision were extremely high, and the coefficient of variation was less than 5%. 3) Verification of analytical sensitivity: The detection limit of 95% for standard strains of HIV-1, HCV and HBV by WanTag-Vortex Plus system in our laboratory was consistent with the analytical sensitivity provided by reagent manufacturers. 4) Verification of cross-contamination resistance: Five strong positive samples and 87 negative samples were placed according to the actual working conditions and equipment operation design, and the test results were consistent with expectations, with no cross-contamination in the testing system. 5) Throughput and stress testing: Each system completed the individual donor-nucleic acid amplification testing (ID-NAT) of 276 samples in three batches within 12 hours, and successfully completed the ID-NAT test of 828 samples in three consecutive days. 6) Verification of reagent stability: After extreme storage (unsealed storage for 1 week with 4 freeze-thaw cycles), the reagents maintained 100% detection rate in the weak positive samples of HIV-1, HCV, and HBV, showing no significant differences from the control group (Kappa=1). 7) Verification of inter-system performance consistency: The system has stable operation performance, and the performance comparison results across the four devices were consistent (Kappa=1). 8) Process control measures: WanTag-Vortex Plus system software accurately controlled the equipment operation process with strict quality control measures, and correctly interpreted and safely reported the test results. Conclusion: The analytical and operational performance of the WanTag-Vortex Plus system complies with manufacturer design standards and essential laboratory workflow requirements. Integrated with laboratory information system (LIS), the system's control software meets standard process control requirements, yet requires further improvement.
6.Feasibility study of a domestic fully automated NAT system for blood screening in blood donors
Fenglan YAO ; Rui WANG ; Jinghui HU ; Hongwei GE ; Chan LENG ; Yi ZHA ; Zifu ZHAO ; Zhengmin LIU
Chinese Journal of Blood Transfusion 2025;38(7):941-949
Objective: To validate the analytical performance, operational performance, and process control measures of a domestic fully automatic nucleic acid testing (NAT) system, thereby ensuring an efficient and orderly blood screening workflow. Methods: The concordance rate and sensitivity of WanTag-Vortex Plus system were verified using WHO standard reference panels of HIV-1, HCV and HBV, while precision was assessed using weak positive samples of HIV-1, HCV and HBV. As for its operational performance evaluation, cross-contamination resistance was assessed using strong positive samples, and throughput and stress testing were conducted using negative samples. Reagent stability was verified using weak positive samples, and inter-system performance consistency was assessed using verification panels. In addition, the process control measures were verified using the laboratory quality control demand scale. Results: 1) Verification of concordance rate: The detection results of negative and positive samples of HIV-1, HCV and HBV by WanTag-Vortex Plus system were all consistent with expectations, and the concordance rate was 100%. 2) Precision verification: the repeatability and intermediate precision were extremely high, and the coefficient of variation was less than 5%. 3) Verification of analytical sensitivity: The detection limit of 95% for standard strains of HIV-1, HCV and HBV by WanTag-Vortex Plus system in our laboratory was consistent with the analytical sensitivity provided by reagent manufacturers. 4) Verification of cross-contamination resistance: Five strong positive samples and 87 negative samples were placed according to the actual working conditions and equipment operation design, and the test results were consistent with expectations, with no cross-contamination in the testing system. 5) Throughput and stress testing: Each system completed the individual donor-nucleic acid amplification testing (ID-NAT) of 276 samples in three batches within 12 hours, and successfully completed the ID-NAT test of 828 samples in three consecutive days. 6) Verification of reagent stability: After extreme storage (unsealed storage for 1 week with 4 freeze-thaw cycles), the reagents maintained 100% detection rate in the weak positive samples of HIV-1, HCV, and HBV, showing no significant differences from the control group (Kappa=1). 7) Verification of inter-system performance consistency: The system has stable operation performance, and the performance comparison results across the four devices were consistent (Kappa=1). 8) Process control measures: WanTag-Vortex Plus system software accurately controlled the equipment operation process with strict quality control measures, and correctly interpreted and safely reported the test results. Conclusion: The analytical and operational performance of the WanTag-Vortex Plus system complies with manufacturer design standards and essential laboratory workflow requirements. Integrated with laboratory information system (LIS), the system's control software meets standard process control requirements, yet requires further improvement.
7.Association of COVID-19 'circuit breaker' with higher rates of elderly trauma admissions.
Yee Har LIEW ; Zhenghong LIU ; Mian Jie LIM ; Pei Leng CHONG ; Norhayati Bte Mohamed JAINODIN ; Teng Teng PEH ; Jing Jing CHAN ; Sachin MATHUR ; Jeremy Choon Peng WEE
Singapore medical journal 2025;66(2):91-96
INTRODUCTION:
In December 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) virus emerged and caused a worldwide pandemic, leading to measures being imposed by many countries to reduce its transmission. Singapore implemented the 'circuit breaker', which restricted all movements except for access to necessities and healthcare services. We aimed to investigate the impact of lockdown measures on the pattern of trauma and its effects.
METHODS:
An observational, retrospective, single-centre descriptive study was conducted using the trauma registry in Singapore General Hospital. It included patients above 18 years old who presented to the emergency department with trauma and were subsequently admitted. Patients admitted from 1 February 2020 to 31 July 2020 and those admitted during the same timeframe in 2019 were studied. Subgroup analyses were performed for patients aged ≥65 years and those <65 years.
RESULTS:
A total of 1,037 patients were included for analysis. A 17.6% increase in trauma presentations was seen from 2019 to 2020. Patients aged ≥65 years accounted for the rise in admissions. The predominant mechanism of injury was falls at home for older patients and vehicular accidents in patients <65 years. There were no significant differences in injury severity score, intensive care/high-dependency unit admission rates, length of stay, mortality rate, and subsequent need for inpatient rehabilitation.
CONCLUSION
Our study provided information on differences in trauma presentations before and during the COVID-19 pandemic. Further studies are required to better inform on additional precautionary measures needed to reduce trauma and improve safety during future lockdowns and pandemics.
Humans
;
COVID-19/prevention & control*
;
Aged
;
Retrospective Studies
;
Singapore/epidemiology*
;
Male
;
Female
;
Wounds and Injuries/epidemiology*
;
Aged, 80 and over
;
Middle Aged
;
SARS-CoV-2
;
Hospitalization/statistics & numerical data*
;
Adult
;
Emergency Service, Hospital/statistics & numerical data*
;
Registries
;
Accidental Falls/statistics & numerical data*
;
Pandemics
;
Patient Admission/statistics & numerical data*
;
Length of Stay
;
Accidents, Traffic/statistics & numerical data*
8.Influence of sample hemolysis on ELISA test results in blood screening laboratory
Qianqian QIN ; Hongwei GE ; Jing ZHANG ; Zifu ZHAO ; Chan LENG ; Rui WANG
Chinese Journal of Blood Transfusion 2024;37(4):417-424
【Objective】 To analyze the effect of sample hemolysis on ELISA test results in blood screening laboratory, so as to determine the acceptable tolerance of hemolysis specific to laboratory test items and detection system, and provide reference for the formulation of tolerance standard of sample hemolysis. 【Methods】 Negative and weakly positive (S/CO was about 2) samples with different hemolysis degrees were tested by several commonly used domestic reagents for HBsAg, HIV Ag/Ab, anti-HCV and anti-TP, respectively. The effects of various degrees of hemolysis on the test results of negative and weakly positive samples for each item were analyzed. 【Results】 1) Hemolysis had no effect on the test results (reactive/non-reactive) of negative and weakly positive samples for HBsAg, anti-HCV and anti-TP ELISA items; 2) Hemolysis affected the test results (reactive/non-reactive) of negative and weakly positive samples for HIV Ag/Ab ELISA item. A tolerance of Hb 2 g/L was taken as the acceptable hemolysis degree for HIV Ag/Ab ELISA item. 【Conclusion】 In this study, the acceptable tolerance of hemolytic samples for corresponding test items and detection system in our laboratory were determined. The influence of hemolysis on ELISA test result is related to the reagent, equipment, environment and other factors, therefore the acceptable tolerance of hemolysis should be determined scientifically and reasonably based on the specific evaluation of each laboratory.
9.Impact of Coronavirus Disease 2019 Lockdown on Back Pain Intensity, Prevalence and Associated Risk Factor Among Adults in Malaysia
Chun Chian Ying ; Teong Tsai Yuan ; Chan Zhi Leng ; Foong Le Hui ; Mona Mohamed Ibrahim Abdalla ; Brinnell Annette Caszo ; Huma Shahzad
Malaysian Journal of Medicine and Health Sciences 2023;19(No.6):10-17
Introduction: Low back pain (LBP) is a common musculoskeletal disorder (MSD) that leads to a variety of negative
consequences. The prevalence of LBP was found to be high worldwide. Individuals have been forced to remote
studying or working conditions during the coronavirus disease 2019 (COVID-19) pandemic, exposing them to the
risk factors of LBP to a greater extent. This is a cross-sectional study conducted among 623 adults and aimed to assess
LBP intensity and prevalence among adults in Malaysia before and during the COVID-19 lockdown and to identify
the association between demographic, physical and psychological factors with LBP. Methods: A self-administered
questionnaire composed of 36 questions regarding demographic characteristics, physical activities and psychological aspects was distributed to the public. Pearson’s Chi-square and Fisher Exact tests were performed using collected
data to assess the association between LBP intensity and various risk factors. Results: The prevalence of LBP increased from 64.4% before the lockdown to 83.5% during the lockdown. LBP intensity significantly increased during
the lockdown. Before lockdown, factors associated with LBP intensity included gender and stress level. While during
the lockdown, age, gender, occupation, time spent on computer use, ergonomics as well as stress level affected the
intensity of LBP. Conclusion: The present study showed that the COVID-19 lockdown has contributed to the increase
in both the prevalence and intensity of LBP among Malaysians. The identified risk factors include age, gender, occupation, duration of sitting and computer use, adherence to ergonomic recommendations, and stress level.
10.PERSONAL GROWTH EXPERIENCES OF COUNTERTRANSFERENCE AMONG MALAYSIAN COUNSELLORS: A PHENOMENOLOGICAL STUDY
Wei Lu Lee ; Poh Li Lau ; Siaw Leng Chan
Journal of University of Malaya Medical Centre 2023;26(1):96-104
Countertransference has become a multifaceted, multidimensional, all-encompassing clinical phenomenon. The current study aimed to understand the positive growth experiences of countertransference in six Malaysian counsellors by utilising a transcendental phenomenological design. Moustakas's eight data analysis steps were applied in the data analysis. The themes that emerged from in-depth interviews included (1) improved self-confidence, (2) skill enhancement, (3) acceptance, (4) openness, (5) self-kindness, (6) a deeper understanding of self, and (7) redefining the meaning. The findings demonstrated that the insights gained through the countertransference experiences added positive values to their professional and personal lives. This study also revealed in-depth descriptions of the positive transformations from countertransference among Malaysian counsellors. This study has significant implications for counselling practices holistically.
Counselors


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