1.Research on The Genealogical Inference Efficiency of High-density SNPs
Jing LI ; Yi-Jie SUN ; Wen-Ting ZHAO ; Zi-Chen TANG ; Jing LIU ; Cai-Xia LI
Progress in Biochemistry and Biophysics 2026;53(3):740-753
ObjectiveThis study aims to explore the potential of different orders of magnitude single-nucleotide polymorphism (SNP) locus combinations for predicting distant kinship relationships. A high-density SNP locus set was constructed, and a comprehensive assessment of its inference capability was conducted. MethodsFirstly, we selected three commercial chip panels, CGA (Chinese genotyping array, Illumina), GSA (Global screening array, Illumina), Affy (23MF_V2 high-density SNP array, Affymetrix) and merged them after quality control, forming a high-density SNP locus panel(1 180 k). Secondly, we selected 161 samples and collected their peripheral blood samples by using whole-genome sequencing technology. Within this sample population, the levels of kinship relationships fully covered the range from level 1 to level 9, and the number of kinship pairs at each level was consistently maintained at over 50 pairs. From 161 samples data of whole-genome sequencing, the 1 180 k locus set was extracted, which is referred to as the high-density SNP locus set in the following text. The kinship inference was conducted using the identity-by-descent (IBD) algorithm with the selected optimal parameters. To comprehensively evaluate the performance of the high-density SNP locus set in kinship inference, we compared it with the three commercial chip panels, the intersection of these three chip loci, and the control sets constructed by randomly reducing the number of the high-density SNP locus set. Based on the changes in the IBD lengths, as well as the dynamic trends in prediction accuracy, we conducted a scientific assessment of the kinship inference capability of the high-density SNP locus set. ResultsAfter screening, a set of 1 184 334 autosomal SNPs was obtained. During the process of screening the optimal IBD length threshold, the result revealed that 0 cM, 1 cM, and 2 cM all demonstrated good applicability. However, to avoid the issue of a large amount of redundant information caused by setting a too low IBD length threshold, this study ultimately selected 2 cM as the optimal threshold. Compared with the average results of three chip panels, the high-density SNP locus set increased the total IBD length and the average IBD length across levels 1-9; the accuracy of the confidence interval for level 8 was 70.97%, which represented a 3.50% improvement; the average confidence interval accuracy for levels 1-8 was 91.39%, representing a 1.00% increase; and the false negative rates at levels 8 and 9 were reduced by 2.42% and 6.76%, respectively. The system efficacy of the high-density SNP locus set for kinship inference of first to eighth degree relationships reached 98.91%. Through random reduction of the high-density SNP locus set results, it is found that increasing the number of SNPs with the panel, the detection efficiency of IBD length showed a significant upward trend. At the same time, the overall trend in the accuracy of kinship relationship prediction as well as the confidence interval accuracy also indicated that both metrics steadily increased with the addition of more loci. ConclusionThe results show that the high-density SNPs panel significantly enhances the efficacy of distant kinship inference, accurately covering kinship degrees, with the average confidence interval accuracy for first to eighth degree relationships stably above 90%. The study finds that increasing the number of SNPs panel can improve the ability to predict distant kinship.
2.Epidemiological characteristics and spatial-temporal clustering of severe fever with thrombocytopenia syndrome in Huai'an City from 2011 to 2024
XIA Wenling ; GAO Qiang ; LI Yang ; CAI Ben ; WAN Chunyu ; CUI Zhizhen ; ZHANG Zheng ; PAN Enchun
Journal of Preventive Medicine 2026;38(1):55-59,65
Objective:
To investigate the epidemiological characteristics and spatial-temporal clustering of severe fever with thrombocytopenia syndrome (SFTS) in Huai'an City, Jiangsu Province from 2011 to 2024, so as to provide a basis for optimizing local SFTS prevention and control strategies, and identifying high-risk areas and key populations.
Methods:
Data on SFTS incidence and deaths in Huai'an City from 2011 to 2024 were collected from the Infectious Disease Reporting Information System of the Chinese Disease Prevention and Control Information System. The reported incidence, mortality, and fatality rates were calculated. Descriptive analysis was performed on temporal, population, and regional distribution. The average annual percent change (AAPC) was used to analyze the trend in the reported incidence of SFTS. Global and local spatial autocorrelation analyses were employed to examine the spatial distribution patterns and spatial association patterns of SFTS incidence while spatio-temporal scanning analyses was used to assess the spatial-temporal clustering of SFTS.
Results:
A total of 337 SFTS cases were reported in Huai'an City from 2011 to 2024, with the reported incidence rising from 0.17/100 000 to 1.88/100 000. There were 20 deaths, with an average annual mortality of 0.03/100 000, and a fatality rate of 5.93%. The incidence showed obvious seasonality, with a peak in May and June (148 cases, accounting for 43.92%). Spring and summer accounted for 107 cases (31.75%) and 159 cases (47.18%), respectively. The reported SFTS cases were mainly male, farmers, and individuals aged ≥41 years, accounting for 56.38%, 79.23%, and 96.74%, respectively. The population distribution of death cases was basically consistent with that of incident cases. Xuyi County was a high-incidence area, with a total of 332 reported cases, accounting for 98.52%. All death cases were reported in this county. Spatial autocorrelation analyses revealed a positive spatial correlation in SFTS incidence from 2019 to 2024, with Moran's I values ranging from 0.214 to 0.336 (all P<0.05). Heqiao Town, Tianquanhu Town, and Guiwu Town in Xuyi County were identified as high-high clustering areas. Spatio-temporal scanning analyses showed that cluster 1 was consistent with the high-high clustering areas, with an aggregation time from the second quarter of 2019 to the second quarter of 2022.
Conclusions
From 2011 to 2024, the reported incidence of SFTS in Huai'an City showed an upward trend, with a high incidence in spring and summer. Males, farmers, and the middle-aged and elderly population were the key populations for prevention and control. Xuyi County was the key area for prevention and control.
3.Assessment of ochratoxin A exposure in the diets of pregnant women in Shanghai
Kailin LI ; Renjie QI ; Hua CAI ; Xia SONG ; Jingjin YANG ; Danping QIU ; Zhenni ZHU ; Yi HE ; Baozhang LUO ; Hong LIU
Shanghai Journal of Preventive Medicine 2026;38(3):181-186
ObjectiveTo investigate the contamination status of ochratoxin A (OTA) in commercially available food products in Shanghai, and to assess OTA exposure levels and the associated non-carcinogenic and carcinogenic risks among pregnant women by integrating dietary consumption data of this population. MethodsThe levels of OTA contamination in 1 520 food samples collected in Shanghai from 2022 to 2023 were determined using liquid chromatography-tandem mass spectrometry. An exposure assessment model was developed based on the dietary consumption levels of pregnant women from the 2016‒2017 Shanghai Pregnant Women Dietary Monitoring Survey to calculate the estimated daily intake (EDI) of OTA, the margin of exposure for non-carcinogenic toxicity (MOE1), and the margin of exposure for carcinogenic toxicity (MOE2). An MOE1 greater than 200 and an MOE2 greater than 10 000 indicate that the non-carcinogenic toxicity and carcinogenic toxicity resulting from exposure are negligible, respectively. For samples with OTA contamination levels below the limit of detection (LOD), which accounted for more than 80% of the samples, the OTA levels were assigned values of 0 and LOD, respectively, for subsequent calculations. ResultsThe detection rates of OTA in cereals, nuts, dried fruits, and alcohol samples collected in 2022 were 2.03%, 0, 0, and 0, respectively. The OTA detection rates in cereals, nuts, dried fruits, beans, and alcohol samples collected in 2023 were 2.50%, 0.39%, 2.47%, 1.67%, and 13.33%, respectively. For pregnant women in Shanghai in 2022, simulation results indicated that when assigning a value of 0 and the LOD, theP50 values of EDI for dietary OTA exposure were 0.05 and 0.72 ng·(kg·d)-1, respectively, and the P95 values of EDI for dietary OTA exposure were 0.25 and 2.40 ng·(kg·d)-1, respectively. For pregnant women in Shanghai in 2023, the P50 values of EDI for dietary OTA exposure were 0.04 and 1.00 ng·(kg·d)-1, respectively, and the P95 values of EDI for dietary OTA exposure were 0.23 and 2.67 ng·(kg·d)-1, respectively, both substantially below the tolerable daily intake (TDI) for OTA [17 ng·(kg·d)-1]. The EDI for dietary OTA exposure in 100.0% of Shanghai pregnant women was lower than the TDI, indicating an overall low level of dietary OTA exposure among this population. For 100.0% of pregnant women, the MOE₁ for dietary OTA exposure exceeded 200. When assigned a value of 0, the MOE₂ for 100.0% of pregnant women in both 2022 and 2023 exceeded10 000. When assigned the LOD value, 72.3% and 81.8% of pregnant women in 2022 and 2023, respectively, had an MOE₂ exceeding 10 000. ConclusionFrom 2022 to 2023, samples of cereals, nuts, dried fruits, beans, and alcohol sold in Shanghai exhibited varying degrees of OTA contamination. The overall EDI of OTA exposure among pregnant women in Shanghai remained at a low level. The non-carcinogenic and carcinogenic risks associated with OTA exposure were generally low and at controllable levels.
4.Effect Modification by Total Bilirubin on the Association Between Hypertension and Cerebral Small Vessel Disease
Zhang XIA ; Xueli CAI ; Yingying YANG ; Shan LI ; Mengxing WANG ; Xuan WANG ; Tiemin WEI ; Yongjun WANG ; Yilong WANG ; Yuesong PAN
Journal of Stroke 2026;28(1):85-96
Background:
and Purpose Bilirubin has potent antioxidant, anti-inflammatory, and neuroprotective effects. Herein, we investigated whether total bilirubin (TBIL) modifies the association between hypertension and cerebral small vessel disease (CSVD).
Methods:
Data were obtained from the PolyvasculaR Evaluation for Cognitive Impairment and vaScular Events study. TBIL and direct bilirubin (DBIL) levels were assayed using fasting venous blood samples. Indirect bilirubin (IBIL) was calculated by subtracting DBIL from TBIL. TBIL was stratified as ≤17 μmol/L and >17 μmol/L based on the biological relevance of Gilbert’s syndrome. Hypertension was defined as blood pressure ≥140/90 mm Hg, self-reported hypertension history, or current use of antihypertensive agents. White matter hyperintensity, lacunes, cerebral microbleeds, and enlarged perivascular spaces were evaluated using magnetic resonance imaging and used to rate CSVD burden according to the criteria proposed by Wardlaw et al. and Rothwell et al.
Results:
This study included 3,061 participants, with a mean age of 61.2±6.7 years and 46.5% males. After adjusting for confounders, hypertension was associated with increased odds of presence of CSVD (Wardlaw: odds ratio [OR]=1.86, 95% confidence interval [CI] 1.41–2.44, P<0.001; Rothwell: OR=1.84, 95% CI 1.43–2.38, P<0.001) and higher modified total CSVD burden (common OR: 1.85, 95% CI 1.45–2.36, P<0.001) in participants with TBIL ≤17 μmol/L but not in TBIL >17 μmol/L (P for interaction <0.05). Johnson–Neyman analyses showed cut-off concentrations of 22.3–22.4 μmol/L for effect modification by TBIL. IBIL contributed to effect modification, whereas DBIL did not.
Conclusions
Mildly elevated TBIL may modify the association between hypertension and CSVD.
5.Epidemiological characteristics and prediction of incidence trend of hepatitis E in Huai'an City in 2015-2024
Wenling XIA ; Hongbo ZHANG ; Yang LI ; Ben CAI ; Wenyi ZHANG ; Chunyu WAN ; Qiang GAO
Journal of Public Health and Preventive Medicine 2026;37(4):26-30
Objective To analyze the epidemiological characteristics of hepatitis E (HE) in Huai'an City from 2015 to 2024, and construct and validate the prediction effect of the Seasonal Autoregressive Integrated Moving Average (SARIMA) model, and to provide a scientific basis for HE prevention and control. Methods Data of reported HE cases in Huai'an City from January 2015 to December 2024 were extracted from the National Disease Control and Prevention Information System. Descriptive epidemiological methods were used to analyze the temporal, regional and population distribution characteristics of HE incidence. After data preprocessing, stationarity test and randomness test, the SARIMA model was constructed. The optimal model was selected by minimizing the Akaike Information Criterion (AIC). The model performance was evaluated by adjusted R-squared (Adj R2) and root mean square error (RMSE). The monthly incidence rate of HE in Huai'an City in 2025 was predicted and compared with the actual incidence data to validate the model. Results A total of 1 713 HE cases were reported in Huai'an City from 2015 to 2024, showing a fluctuating upward trend. Huaiyin District (339 cases) and Lianshui County (334 cases) were high-incidence areas. The cases were mainly concentrated in people aged 45 and above (83.3%), males (gender ratio 2.37:1) and farmers (70.8%). The optimal model was SARIMA (1,1,1)×(2,0,1)12, with residual as white noise sequence. There was no statistical difference between the actual incidence and predicted value from January to August 2025 (P>0.05). Conclusion HE incidence in Huai'an has obvious aggregation and temporal fluctuation characteristics. The SARIMA model has a good prediction effect, which can provide reference for formulating targeted prevention and control strategies.
6.Clinical analysis of a case of acute mercury poisoning due to intramuscular injection of metallic mercury
Qifeng WU ; Ming HUA ; Danxia FANG ; Xia LI ; Pin CAI ; Yongguang ZHANG
China Occupational Medicine 2026;53(2):196-200
Objective To summarize the clinical features and treatment strategies of acute mercury poisoning caused by intramuscular injection of metallic mercury. Methods The clinical data of a patient with acute mercury poisoning following intramuscular injection of metallic mercury were collected, and a retrospective analysis of the diagnosis and treatment process was conducted. Results The patient was a 14-year-old boy who self-injected 20 g of metallic mercury into the left upper arm muscle. Clinical manifestations included fever, chest tightness, cough, and a painful mass at the injection site. Laboratory tests of the patient indicated that blood mercury level was 4.160 μmol/L, urinary mercury level was 6 545.50 μg/g creatinine, urinary retinol-binding protein was 6 556 μg/L, urinary β2-microglobulin was 8 726.48 μg/g creatinine, and urinary α1-microglobulin was 41.60 mg/L at day 11 after injection. Thoracoabdominal imaging revealed mercury deposition in the lungs, heart, liver, kidneys, and other organs. The patient's clinical symptoms were markedly relieved after one course of treatment with sodium dimercaptopropanesulfonate for mercury chelation. Subsequent treatment included continued mercury chelation therapy, debridement of muscle tissue at the injection site, removal of retained foreign bodies, and other supportive measures. Reexamination showed a blood mercury level of 2.810 μmol/L and urinary mercury level of 5 280 μg/L at day 127 after injection. Conclusion The clinical manifestations of intramuscular injection of metallic mercury poisoning differ from those of occupational mercury poisoning. Debridement of the injection site combined with sodium dimercaptopropanesulfonate chelation therapy can alleviate systemic symptoms and reduce mercury levels in such patients.
7.Analysis and prevention strategies for abnormal blood waste events in blood collection and supply processes
Kaiqiang LIU ; Huayou DAI ; Minyu HUA ; Tingting HU ; Weifei QIN ; Jixia ZHOU ; Xiaojing LIU ; Huaying CAI ; Chenghui LUO ; Shoubing ZHU ; Yanhua SHI ; Xi DENG ; Xia HUANG
Chinese Journal of Blood Transfusion 2026;39(8):1061-1066
Objective: To analyze the characteristics and key risk factors of abnormal blood disposal throughout the 2024-2025 blood collection and supply process based on nationwide multi-site monitoring data, develop a comprehensive prevention and control strategy across the entire chain, reduce preventable blood waste, and ensure clinical blood safety. Methods: According to the Guidelines for Haemovigilance (T/CSBT 001-2026), we extracted 74 cases of abnormal blood disposal events reported by the China Blood Transfusion Association′s Blood Safety Monitoring System from January 1 2024, to December 31 2025, and conducted descriptive statistical analysis on the distribution of events, types of deviations, root causes, and classifications of disposal manifestations. Results: A total of 664 adverse events related to blood collection and supply were reported over two years, with 74 cases involving discarded abnormal blood units, accounting for 11.1% of the total. Among these, blood component preparation (40.5%) and blood collection (37.8%) remained traditional high-risk stages. The proportion of blood waste occurring during storage, distribution, and transportation increased from 7.7% in 2024 to 34.3% in 2025. Deviations from standard operating procedures (SOP) by personnel were the primary cause, accounting for 74.3% of cases. Discarded blood units were categorized into four types: compromised closed blood bag systems (40 cases), mainly due to inadequate heat sealing, physical damage, or dropped bags; blood out of the cold chain (12 cases), primarily resulting from blood being left at work sites; imbalanced proportion of preservation solution (10 cases), mostly caused by blood collection volumes exceeding the standard capacity of blood bags; and other causes (12 cases). Conclusion: Human operational errors are the core cause of abnormal blood waste. The collection and preparation stages have long been at high-risk, and the risks in the storage and transportation stages have been increasing year by year. We should focus on standardizing personnel management, improving specialized operation norms such as heat sealing, transportation, and storage, establishing a full-process intelligent cold chain monitoring and multi-node visual verification mechanism, and systematically reducing the occurrence rate of abnormal blood waste through a closed-loop quality intervention system, thereby improving the utilization efficiency of voluntary blood donation resources.
8.Analysis of screening myopia and its influencing factors among children and adolescents in Tianhe District, Guangzhou during 2021-2024
ZENG Xia, LIN Yinglin, SUN Shihong, LI Biao, LEI Ying, LIN Rong, CAI Wenfeng
Chinese Journal of School Health 2026;47(8):1091-1095
Objective:
To investigate the annual trend and influencing factors of screening myopia prevalence among children and adolescents in Tianhe District, Guangzhou from 2021 to 2024, so as to provide a scientific basis for optimizing targeted and precise regional myopia prevention and control strategies.
Methods:
From 2021 to 2024, a stratified cluster random sampling method was adopted to recruit 10 132 students ranging from senior kindergarten to senior high school from fixed monitoring sites for myopia screening. Additionally, a questionnaire survey on myopia related factors was administered to 7 115 students in grade 4 and above. Generalized estimating equation (GEE) models were used to analyze the annual changing trends and interaction effects, and mixed effects models were performed for sensitivity analysis.
Results:
The screening myopia prevalence among children and adolescents in Tianhe District from 2021 to 2024 was 58.9%, 57.3%, 56.8%, and 54.7%, respectively, and showed a statistically significant difference ( χ 2=9.06, P <0.05). The prevalence rates among senior kindergarten, primary school, junior high school, regular senior high school, and vocational high school students were 8.7%, 40.7%, 74.3%, 86.7%, and 75.6%, respectively (χ 2= 2 493.11, P <0.05). The prevalence was significantly higher in female students (60.9%) than in male students (53.3%) ( χ 2= 59.22 , P <0.05). GEE analysis showed that male students ( OR =0.59), primary school students ( OR =0.45), those who spent less than 6 hours per day sitting indoors ( OR =0.78), and those who used electronic devices for no more than 2 hours per day ( OR = 0.25 ) all had lower risks of screening myopia (all P <0.05). Students in regular high schools ( OR =2.01), those who engaged in activities inside the classroom during breaks ( OR =1.55), those who engaged in activities outside the classroom but within the school building during breaks ( OR = 1.46), those who never or only occasionally maintained proper reading and writing postures ( OR =1.32), those with less than 2 hours of daily outdoor activity ( OR =1.86), those with both parents being myopic ( OR =2.48), those with only the father being myopic ( OR =1.50), and those with only the mother being myopic ( OR =1.63) all had higher risks of screening detected myopia (all P <0.05). Interaction effect analysis revealed annual heterogeneity in the effects of daily outdoor activity time ≥2 h and daily electronic device use time >2 h on screening myopia prevalence (all P <0.05).
Conclusions
The screening myopia prevalence among children and adolescents in Tianhe District, Guangzhou, demonstrates a continuous downward trend. The impacts of daily outdoor activity duration and electronic device usage time on screening myopia exhibit annual heterogeneity. Dynamic and targeted myopia prevention and control strategies should be formulated in accordance with regional demographic features and environmental changes.
9.Characteristics of mitochondrial translational initiation factor 2 gene methylation and its association with the development of hepatocellular carcinoma
Huajie XIE ; Kai CHANG ; Yanyan WANG ; Wanlin NA ; Huan CAI ; Xia LIU ; Zhongyong JIANG ; Zonghai HU ; Yuan LIU
Journal of Clinical Hepatology 2025;41(2):284-291
ObjectiveTo investigate the characteristics of mitochondrial translational initiation factor 2 (MTIF2) gene methylation and its association with the development and progression of hepatocellular carcinoma (HCC). MethodsMethSurv and EWAS Data Hub were used to perform the standardized analysis and the cluster analysis of MTIF2 methylation samples, including survival curve analysis, methylation signature analysis, the association of tumor signaling pathways, and a comparative analysis based on pan-cancer database. The independent-samples t test was used for comparison between two groups; a one-way analysis of variance was used for comparison between multiple groups, and the least significant difference t-test was used for further comparison between two groups. The Cox proportional hazards model was used to perform the univariate and multivariate survival analyses of methylation level at the CpG site. The Kaplan-Meier method was used to investigate the survival differences between the patients with low methylation level and those with high methylation level, and the Log-likelihood ratio method was used for survival difference analysis. ResultsGlobal clustering of MTIF2 methylation showed that there was no significant difference in MTIF2 gene methylation level between different races, ethnicities, BMI levels, and ages. The Kaplan-Meier survival curve analysis showed that the patients with N-Shore hypermethylation of the MTIF2 gene had a significantly better prognosis than those with hypomethylation (hazard ratio [HR]=0.492, P<0.001), while there was no significant difference in survival rate between the patients with different CpG island and S-Shore methylation levels (P>0.05). The methylation profile of the MTIF2 gene based on different ages, sexes, BMI levels, races, ethnicities, and clinical stages showed that the N-Shore and CpG island methylation levels of the MTIF2 gene decreased with the increase in age, and the Caucasian population had significantly lower N-Shore methylation levels of the MTIF2 gene than the Asian population (P<0.05); the patients with clinical stage Ⅳ had significantly lower N-Shore and CpG island methylation levels of the MTIF2 gene than those with stage Ⅰ/Ⅱ (P<0.05). Clinical validation showed that the patients with stage Ⅲ/Ⅳ HCC had a significantly lower methylation level of the MTIF2 gene than those with stage Ⅰ/Ⅱ HCC and the normal population (P<0.05). ConclusionN-Shore hypomethylation of the MTIF2 gene is a risk factor for the development and progression of HCC.
10.Investigation on the mechanisms of Colquhounia Root Tablets in reversing vascular endothelial cell dysfunction of rheumatoid arthritis via modulating NOD2/SMAD3/VEGFA signaling axis
Bing-bing CAI ; Ya-wen CHEN ; Tao LI ; Yuan ZENG ; Yan-qiong ZHANG ; Na LIN ; Xia MAO ; Ya LIN
Acta Pharmaceutica Sinica 2025;60(2):397-407
Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial inflammation, joint destruction, and functional impairment. Angiogenesis plays a key role in the pathological progression of RA with dysfunction of endothelial cells to promote synovial inflammation, sustain pannus formation, subsequently leading to joint damage. Colquhounia Root Tablets (CRT), a Chinese patent drug, has shown a satisfying clinical efficacy in treating RA, while the underlying mechanism by which CRT inhibits RA-associated angiogenesis remains unclear. In this study, we applied a research approach combining transcriptomic data analysis, bio-network mapping, and


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