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.Effect of Liangxue Tuizi Formula (凉血退紫方) on RAF/MEK/ERK Pathway in Skin Tissue and Serum NETs Biomarkers in Henoch-Schönlein Purpura Model Rats with Blood Heat Syndrome
Yingying JIANG ; Manxiang YANG ; Zhenhua YUAN ; Leying XI ; Mingyang CAI ; Diya MA ; Yifan LI ; Yuhang NIU ; Runze LIU ; Jiawen CAO ; Xilin CHEN ; Xianqing REN
Journal of Traditional Chinese Medicine 2025;66(23):2475-2483
ObjectiveTo investigate the potential mechanism of Liangxue Tuizi Formula (凉血退紫方, LXTZF) in treating Henoch-Schönlein Purpura (HSP) by examining its regulatory effect on neutrophil extracellular trap (NETs) dysregulation via the rapidly accelerated fibrosarcoma kinase (RAF)/mitogen-activated protein kinase (MEK)/extracellular signal-regulated kinase (ERK) signaling pathway. MethodsSeventy Wistar rats were randomly allocated into a blank control group (n=14) and a modeling group (n=56). Rats in the modelling group underwent an eight-week modelling period to establish HSP rat models with blood-heat syndrome via modified ovalbumin (OVA) induction method combined with oral administration of heat-property Chinese herbal medicine. Fifty successfully modeled rats were subsequently randomly divided into five groups (n=10 per group), model group, compound glycyrrhizin group, LXTZF group, RAF inhibitor group, and LXTZF + RAF agonist group. Additionally, 10 rats were selected from the original blank control group for the final experiment. From the 11th week of modelling, rats in the blank control group and the model group received 1 ml/(100 g·d) ultrapure water via oral administration, in addition to 0.5 ml/(kg·d) 0.9% sodium chloride solution via intraperitoneal injection. The LXTZF group and the compound glycyrrhizin group received 7.5 g/(kg·d) LXTZF granule suspension via gavage, 13.5 mg/(kg·d) compound glycyrrhizin suspension via gavage, respectively. The RAF inhibitor group received 1 mg/(kg·d) GW5074 suspension via intraperitoneal injection and ultrapure water via oral administration; the LXTZF + RAF agonist group received 7.5 g/(kg·d) LXTZF granule suspension via gavage and 1 mg/(kg·d) paclitaxel suspension via intraperitoneal injection. All administrations were performed once daily for 4 weeks. After intervention, skin tissue histopathology was examined by hematoxylin and eosin (H&E) staining, immunoglobulin A (IgA) deposition was assessed via immunofluorescence, serum levels of neutrophil elastase (NE), tumor necrosis factor-α (TNF-α), and vascular cell adhesion molecule-1 (VCAM-1) were measured using enzyme-linked immunosorbent assay (ELISA), serum myeloperoxidase (MPO) level was determined by a colorimetric assay; the mRNA expression levels of RAF, MEK, and ERK in skin tissue were detected by real-time quantitative polymerase chain reaction (RT-qPCR); and the protein expression of RAF, MEK, ERK, as well as phosphorylated MEK (p-MEK) and phosphorylated ERK (p-ERK), were analyzed by Western Blot. ResultsSkin tissue in the blank control group rats remained normal, whereas the model group exhibited neutrophil infiltration and haemorrhage with red blood cell rupture. In all drug intervention groups, neutrophil infiltration and haemorrhagic exudation reduced markedly, with LXTZF group demonstrating the most pronounced improvement. Compared with the blank control group, rats in the model group exhibited enhanced IgA fluorescence intensity in skin tissue, elevated serum levels of NE, MPO, TNF-α and VCAM-1, increased mRNA expression of RAF, MEK, ERK1 and ERK2, as well as heightened RAF protein levels and p-MEK/MEK and p-ERK/ERK ratios (P<0.05). Compared with the model group, the drug intervention groups exhibited reduced IgA fluorescence intensity in skin tissue, along with decreased serum levels of NE, MPO, TNF-α, and VCAM-1 (P<0.05). In LXTZF group and RAF inhibition groups, reduced mRNA expression of RAF, MEK, ERK1, and ERK2 was observed in rat skin tissue, alongside decreased RAF protein levels and reduced p-MEK/MEK and p-ERK/ERK ratios (P<0.05). Compared with LXTZF + RAF agonist group, the compound glycyrrhizin group, LXTZF group, and RAF inhibitior group exhibited reduced IgA fluorescence intensity in skin tissue, decreased serum NE, MPO, TNF-α, and VCAM-1 levels, and decreased MEK mRNA expression and p-MEK/MEK ratio (P<0.05). ConclusionThe potential mechanism by which LXTZF treats Henoch-Schönlein purpura with blood heat syndrome may involve blocking the RAF/MEK/ERK signaling pathway in skin tissue, and suppressing excessive formation of NETs, thereby reducing IgA deposition in dermal microvessels and attenuating systemic inflammatory responses.
6.Robot-assisted minimally invasive transforaminal lumbar interbody fusion in treatment of lumbar degenerative diseases
Ting LI ; Wenao LIAO ; Wenjie ZHONG ; Xilin LIU ; Fei WANG ; Jiang HU
Chinese Journal of Tissue Engineering Research 2024;28(12):1855-1862
BACKGROUND:Minimally invasive surgery is developing rapidly.Robot-assisted minimally invasive transforaminal lumbar interbody fusion and robot-assisted unilateral biportal endoscopic transforaminal/posterior lumbar interbody fusion are important posterior minimally invasive surgical approaches to treat lumbar degenerative diseases.However,it is worth discussing which operation method is more advantageous. OBJECTIVE:To compare the clinical efficacy and imaging examination between different operation groups,and discuss the clinical application value of robot-assisted minimally invasive lumbar posterior fusion technology to treat lumbar degenerative diseases. METHODS:Clinical data of 83 patients with lumbar degenerative diseases from January 2018 to June 2022 at the Department of Orthopedics,Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital were retrospectively analyzed.Of them,27 patients received robot-assisted minimally invasive transforaminal lumbar interbody fusion treatment(group A);30 patients received robot-assisted unilateral biportal endoscopic transforaminal/posterior lumbar interbody fusion treatment(group B),and 26 traditional minimally invasive transforaminal lumbar interbody fusion patients were selected as the control group(group C).There were no significant differences in gender,age,body mass index,surgical segment,preoperative visual analog scale score and Oswestry Disability Index among the three groups(P>0.05).The operation time,intraoperative blood loss,complications,fluoroscopic dose,fluoroscopic time,and fluoroscopic frequency were compared among the three groups.Gertzbein-Robbins'classification was used to evaluate the accuracy of percutaneous pedicle screw.Visual analog scale and Oswestry Disability Index scores were evaluated after surgery.The excellent and good rate of the three surgical options was evaluated using Macnab's criteria. RESULTS AND CONCLUSION:(1)The operation time of group A was significantly shorter than that of groups B and C(P<0.05),but there was no significant difference between group B and group C(P>0.05).The intraoperative blood loss in group B was significantly less than that in group A,and that in group A was significantly less than that in group C(P<0.05).(2)The fluoroscopic dose,fluoroscopic time,and fluoroscopic frequency of group C were significantly higher than those of groups A and B(P<0.05).(3)Visual analog scale score and Oswestry Disability Index in the three groups significantly improved after operation when compared with that before operation(P<0.05),but there was no significant difference among the three groups 1 day and 6 months after surgery(P>0.05).(4)Postoperative imaging showed that the accuracy of percutaneous pedicle screw placement in groups A and B was better than that in group C(P<0.05).(5)There was no significant difference in the excellent and good rate of MacNab criteria among the three groups(P>0.05).(6)There was no significant difference in complications among the three groups(P>0.05).(7)The results indicated that robot-assisted minimally invasive transforaminal lumbar interbody fusion and robot-assisted unilateral biportal endoscopic transforaminal/posterior lumbar interbody fusion are effective surgery methods for lumbar degenerative diseases.Compared with traditional minimally invasive transforaminal lumbar interbody fusion,robot-assisted minimally invasive transforaminal lumbar interbody fusion surgery has higher efficiency,less intraoperative radiation and higher internal fixation accuracy,which has a good clinical application value.
7.Rapid Analysis of Chemical Constituents in Rubus Sachalinensis Leveille of Mongolian Medical Herb by HPLC-Q-Exactive-MS/MS
Jing LI ; Na LI ; Baoquan BAO ; Dongning HAN ; Ping ZHANG
Chinese Journal of Modern Applied Pharmacy 2024;41(11):1447-1455
OBJECTIVE
To rapidly analyze the chemical constituents of Rubus sachalinensis Leveille by HPLC-Q-Exactive-MS/MS.
METHODS
Chromatographic separation was carried out on CAPCELL PAK MGII C18(4.6 mm×250 mm, 5 μm) column at the temperature of 30 ℃. The mobile phase was acetonitrile-0.1% formic acid by gradient elution, with a flow rate of 1.0 mL∙min−1, and the injection volume of 20 µL. The MS spectrum was acquired in negative ion modes using HESI ion source.
RESULTS
The molecular and structural formulae of the compounds were determined based on the exact mass number and ChemSpider and PubChem databases. By comparing the retention time of the corresponding reference standards and those reported in the literature, primary mass spectra, and secondary mass spectrometry pyrolysis fragments, combined with fragmentation regularity of such compounds, a total of 71 compounds were identified from Rubus sachalinensis Leveille, including 30 organic acids, 22 flavonoids, 7 triterpenoid saponins, 5 coumarins, 1 lignan, 1 gallotannin and 2 aromatic compounds.
CONCLUSION
This method can quickly and accurately identify the complex chemical constituents in Rubus sachalinensis Leveille, and provide scientific basis for the basic research on the medicinal substances of Rubus sachalinensis Leveille.
8.Evaluation of student experience teaching in medical colleges and universities under the three-source flow theory: proposal of core concepts and framework construction
Yuzhuo XIE ; Yong LI ; Xilin XU ; Yazhou WANG ; Yuwei ZHANG ; Mingli JIAO
Chinese Journal of Medical Education Research 2024;23(7):865-871
In the context of the emphasis on the claims of multiple subjects in fourth-generation educational evaluation, the subjective experience of students has gradually become one of the key contents of educational evaluation. However, there is still a vague understanding of the conceptual source, specific definition, and measurement indicators of the student experience theory, and a more systematic theoretical system has not yet been formed. With the UE user experience thinking in the business field as the core meta-theory, this article integrates value-added evaluation and the idea of three-source flow, elaborates on the core concept connotation of compound student experience teaching evaluation, and builds a five-dimensional evaluation model for student experience with "aesthetic experience, interactive experience, emotional experience, behavioral experience, and discursive experience" as the first-level indicators based on literature research, expert interviews, and multi-round group discussions. It is hoped that student evaluation will force teachers to improve the contents and form of teaching and help to achieve breakthrough reform of the teaching system as a whole.
9.The value of Revolution CT in identifying the tumor-lung interface between central lung cancer and accompanying atelectasis
Xilin LI ; Jing CHEN ; Lihui GENG ; Qi LI ; Jian LI ; Yang CHEN ; Jingwang LIU
Journal of Practical Radiology 2024;40(5):713-716
Objective To study the application value of multi-parameter imaging of Revolution energy spectrum CT in identifying the tumor-lung interface between central lung cancer and accompanying atelectasis.Methods The spectral CT imaging data of 73 patients with central lung cancer and accompanying atelectasis confirmed by pathology were collected.The polychromatic image,the best monochromatic image,the best monochromatic image combined with iodine concentration map and the effective atomic number(Eff-Z)of the tumor-lung interface in the arterial,venous and delayed phases were compared,and the CT value,iodine concentration(IC)value,Eff-Z and the slope of energy spectrum curve(λHU)of tumors and atelectasis in the venous phase were also compared.Results(1)On tri-phase CT,the subjective score of the tumor-lung interface in the venous phase was the highest.(2)There were differences among the subjective scores of tumor-lung interface on polychromatic image,best monochromatic image,best monochromatic image com-bined with iodine concentration map and Eff-Z on tri-phasic enhanced CT.The subjective score of the best monochromatic image combined with iodine concentration map was the highest,followed by the best monochromatic image.(3)There were significant differences in CT values,IC values,Eff-Z and λHU between tumors and atelectasis in venous phase,with the highest difference of IC value.Conclusion Revolution energy spectrum CT can identify the tumor-lung interface between central lung cancer and accompanying ate-lectasis through multi-parameter imaging,which may provide helpful information for the diagnosis and therapeutic evaluation of the disease.
10.Correlation between human leukocyte antigen HLA-A gene polymorphism and HBV carrier
Li SHUAI ; Shuai YANG ; Junjie YE ; Jingcheng YANG ; Xiaoye FU ; Bin XU ; Hongwei LIU ; Lü ZHOU ; Xilin KANG ; Jing GAO
Journal of Xi'an Jiaotong University(Medical Sciences) 2024;45(6):1037-1040
[Objective] To investigate the correlation between human leukocyte antigen (HLA) gene polymorphism and hepatitis B virus (HBV) infection. [Methods] Venous blood samples were collected from 501 healthy individuals undergoing physical examinations at Yan’an Hospital in Kunming, Yunnan Province. Enzyme linked immunosorbent assay (ELISA) was used to detect HBV halves. Based on the results of HBV half detection, the patients were divided into three groups: HBV carrier group, previous infection group, and healthy control group. The HLA-A antigen genotype was detected using polymerase chain reaction with sequence specific primers (PCR-SSP) genotyping technology, and the distribution frequency of HLA-A gene polymorphism was compared between HBV carrier group and healthy control group, as well as between previous infection group and healthy control group. SPSS17.0 software was used for data statistical analysis. [Results] In the healthy control group, the HLA-A2 positivity rate was 47.49%, and the allele frequency was 31.29%.The overall frequency of gene distribution in the healthy control group was consistent with the HLA-A allele table commonly and confirmed in China published by the Chinese Bone Marrow Bank. The HLA-A2 positivity rate and allele frequency in the HBV carrier group were 63.04% and 42.23%, respectively; The difference in HLA-A2 positivity rate and allele frequency among carriers was statistically significant (P<0.05). the HLA-A2 positivity rate and allele frequency in the HBV previous infection group were 56.14% and 35.97%, respectively, which did not significantly differ from those in the healthy control group (P>0.05). [Conclusion] HLA-A2 gene may be a susceptibility gene for chronic hepatitis B HBV carriers.


Result Analysis
Print
Save
E-mail