1.Spousal correlations of blood lipid based on a family design
Yixin LI ; Huangda GUO ; Hexiang PENG ; Tianjiao HOU ; Hanyu ZHANG ; Yinxi TAN ; Yi ZHENG ; Mengying WANG ; Yiqun WU ; Xueying QIN ; Jin LI ; Ying YE ; Tao WU ; Dafang CHEN ; Yonghua HU ; Liming LI
Journal of Peking University(Health Sciences) 2025;57(3):423-429
Objective:To explore the spousal correlations of total cholesterol(TC),total triglyceride(TG),low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C),and to investigate the reasons behind these spousal correlations.Methods:Participants and data were from the baseline survey of family-based cohort studies in Fangshan,Beijing and Tulou,Fujian.The ori-gin of spousal correlations were explored from perspectives of convergence,assortative mating,social ho-mogamy.Pearson's correlation and generalized linear models(GLM)were used to estimate the spousal correlation.Convergence was assessed by Pearson's correlation between the phenotypic differences be-tween couples and the duration of marriage,with GLM used for further validation.Pearson's correlation of genetic risk scores(GRS)and couple-specific Mendelian randomization(MR)were calculated to assess the genetic correlation and possible causal relationships between spouses.Two-independent-sample t-tests were used to compare GRS consistency across subgroups divided by education attainment,couple-specific MR and Q statistics used to test assortative mating in subgroups and intergroup differences.Results:In the study,342 couples(287 couples from Fangshan and 55 couples from Fujian)were included,with the average age of(64.91±8.76)years.Spousal correlations of TC,TG,HDL-C,and LDL-C showed statistically significant associations both before and after adjusting for covariates,with effect sizes of 0.229(95%CI:0.125-0.327),0.257(95%CI:0.155-0.354),0.179(95%CI:0.074-0.280),and 0.181(95%CI:0.076-0.282).For convergence,for each additional year of marriage,ΔTC increased by 0.016 mmol/L(95%CI:0.001-0.033 mmol/L),and ΔLDL-C increased by 0.017 mmol/L(95%CI:0.002-0.031 mmol/L).For assortative mating,GRS correlations and results of couple specific MR didn't show any statistical significance.For social homogamy,no differences in GRS or assortative mating were found between subgroups stratified by education attainment.Conclusion:The blood lipid in participants exhibit spousal phenotypic correlations,however,no effects of convergence,assortative mating or social homogamy were observed.More independent studies with larger sample sizes are warranted to further validate these findings in the future.
2.Parent-of-origin effect and its research progress in cardio-metabolic diseases
Hexiang PENG ; Mengying WANG ; Siyue WANG ; Huangda GUO ; Tianjiao HOU ; Yixin LI ; Hanyu ZHANG ; Yiqun WU ; Xueying QIN ; Jin LI ; Dafang CHEN ; Yonghua HU ; Tao WU
Chinese Journal of Preventive Medicine 2025;59(9):1552-1558
Genomic imprinting refers to the phenomenon of differential expression of two alleles due to their different parental origins. Genes that produce genomic imprinting are usually called imprinted genes. The genetic effect caused by the presence of imprinted genes is called parent-of-origin effect. Parent-of-origin effect and genomic imprinting play important roles in the pathophysiological mechanism and occurrence and development of cardio-metabolic diseases. In-depth exploration of the law and potential roles of imprinted genes and parent-of-origin effects will help to better understand the mechanism of cardio-metabolic diseases, and also provide important theoretical basis for the precise treatment of diseases related to imprinted genes.
3.Research progress on the mechanism of traditional Chinese medicine monomers acting on myelosuppression after chemotherapy based on the four properties theory
Sihan ZHANG ; Tingting WANG ; Zhifen ZHAO ; Hanyu KANG ; Jiaqi JI ; Ziqiang GUO ; Tong LIU ; Shiqing JIANG
China Pharmacy 2025;36(18):2341-2347
Chemotherapy is an important treatment for tumors, but most patients experience varying degrees of chemotherapy- induced myelosuppression. Four properties theory of traditional Chinese medicine (TCM) has unique advantages in improving chemotherapy-induced myelosuppression. The monomers from TCM with different properties and flavors, such as cold-natured (e.g. Scutellaria baicalensis, Rhus chinensis), cool-natured (e.g. Ligustrum lucidum, Ophiopogon japonicus), warm-natured (e.g. Panax ginseng, Epimedium brevicornu, Curcuma longa, Angelica sinensis), hot-natured (e.g. Cinnamomum cassia, Aconitum carmichaeli), and neutral-natured (e. g. donkey-hide gelatin, Lycium barbarum, Rhodiola rosea, fungi), can exert anti- myelosuppressive effects by reducing damage to hematopoietic stem/progenitor cells, improving the bone marrow hematopoietic microenvironment, inhibiting the oxidative stress response, regulating signaling pathways, so as to ultimately repaire inflammatory damage and improve hematopoietic function, thereby playing an anti-myelosuppressive role.
4.CRAKUT:integrating contrastive regional attention and clinical prior knowledge in U-transformer for radiology report generation.
Yedong LIANG ; Xiongfeng ZHU ; Meiyan HUANG ; Wencong ZHANG ; Hanyu GUO ; Qianjin FENG
Journal of Southern Medical University 2025;45(6):1343-1352
OBJECTIVES:
We propose a Contrastive Regional Attention and Prior Knowledge-Infused U-Transformer model (CRAKUT) to address the challenges of imbalanced text distribution, lack of contextual clinical knowledge, and cross-modal information transformation to enhance the quality of generated radiology reports.
METHODS:
The CRAKUT model comprises 3 key components, including an image encoder that utilizes common normal images from the dataset for extracting enhanced visual features, an external knowledge infuser that incorporates clinical prior knowledge, and a U-Transformer that facilitates cross-modal information conversion from vision to language. The contrastive regional attention in the image encoder was introduced to enhance the features of abnormal regions by emphasizing the difference between normal and abnormal semantic features. Additionally, the clinical prior knowledge infuser within the text encoder integrates clinical history and knowledge graphs generated by ChatGPT. Finally, the U-Transformer was utilized to connect the multi-modal encoder and the report decoder in a U-connection schema, and multiple types of information were used to fuse and obtain the final report.
RESULTS:
We evaluated the proposed CRAKUT model on two publicly available CXR datasets (IU-Xray and MIMIC-CXR). The experimental results showed that the CRAKUT model achieved a state-of-the-art performance on report generation with a BLEU-4 score of 0.159, a ROUGE-L score of 0.353, and a CIDEr score of 0.500 in MIMIC-CXR dataset; the model also had a METEOR score of 0.258 in IU-Xray dataset, outperforming all the comparison models.
CONCLUSIONS
The proposed method has great potential for application in clinical disease diagnoses and report generation.
Humans
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Radiology Information Systems
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Radiology
5.Parent-of-origin effect and its research progress in cardio-metabolic diseases
Hexiang PENG ; Mengying WANG ; Siyue WANG ; Huangda GUO ; Tianjiao HOU ; Yixin LI ; Hanyu ZHANG ; Yiqun WU ; Xueying QIN ; Jin LI ; Dafang CHEN ; Yonghua HU ; Tao WU
Chinese Journal of Preventive Medicine 2025;59(9):1552-1558
Genomic imprinting refers to the phenomenon of differential expression of two alleles due to their different parental origins. Genes that produce genomic imprinting are usually called imprinted genes. The genetic effect caused by the presence of imprinted genes is called parent-of-origin effect. Parent-of-origin effect and genomic imprinting play important roles in the pathophysiological mechanism and occurrence and development of cardio-metabolic diseases. In-depth exploration of the law and potential roles of imprinted genes and parent-of-origin effects will help to better understand the mechanism of cardio-metabolic diseases, and also provide important theoretical basis for the precise treatment of diseases related to imprinted genes.
6.Spousal correlations of blood lipid based on a family design
Yixin LI ; Huangda GUO ; Hexiang PENG ; Tianjiao HOU ; Hanyu ZHANG ; Yinxi TAN ; Yi ZHENG ; Mengying WANG ; Yiqun WU ; Xueying QIN ; Jin LI ; Ying YE ; Tao WU ; Dafang CHEN ; Yonghua HU ; Liming LI
Journal of Peking University(Health Sciences) 2025;57(3):423-429
Objective:To explore the spousal correlations of total cholesterol(TC),total triglyceride(TG),low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C),and to investigate the reasons behind these spousal correlations.Methods:Participants and data were from the baseline survey of family-based cohort studies in Fangshan,Beijing and Tulou,Fujian.The ori-gin of spousal correlations were explored from perspectives of convergence,assortative mating,social ho-mogamy.Pearson's correlation and generalized linear models(GLM)were used to estimate the spousal correlation.Convergence was assessed by Pearson's correlation between the phenotypic differences be-tween couples and the duration of marriage,with GLM used for further validation.Pearson's correlation of genetic risk scores(GRS)and couple-specific Mendelian randomization(MR)were calculated to assess the genetic correlation and possible causal relationships between spouses.Two-independent-sample t-tests were used to compare GRS consistency across subgroups divided by education attainment,couple-specific MR and Q statistics used to test assortative mating in subgroups and intergroup differences.Results:In the study,342 couples(287 couples from Fangshan and 55 couples from Fujian)were included,with the average age of(64.91±8.76)years.Spousal correlations of TC,TG,HDL-C,and LDL-C showed statistically significant associations both before and after adjusting for covariates,with effect sizes of 0.229(95%CI:0.125-0.327),0.257(95%CI:0.155-0.354),0.179(95%CI:0.074-0.280),and 0.181(95%CI:0.076-0.282).For convergence,for each additional year of marriage,ΔTC increased by 0.016 mmol/L(95%CI:0.001-0.033 mmol/L),and ΔLDL-C increased by 0.017 mmol/L(95%CI:0.002-0.031 mmol/L).For assortative mating,GRS correlations and results of couple specific MR didn't show any statistical significance.For social homogamy,no differences in GRS or assortative mating were found between subgroups stratified by education attainment.Conclusion:The blood lipid in participants exhibit spousal phenotypic correlations,however,no effects of convergence,assortative mating or social homogamy were observed.More independent studies with larger sample sizes are warranted to further validate these findings in the future.
7.Associations of short-term ambient particulate matter exposure and MTNR1B gene with triglyceride-glucose index:A family-based study
Huangda GUO ; Hexiang PENG ; Siyue WANG ; Tianjiao HOU ; Yixin LI ; Hanyu ZHANG ; Mengying WANG ; Yiqun WU ; Xueying QIN ; Xun TANG ; Jing LI ; Dafang CHEN ; Yonghua HU ; Tao WU
Journal of Peking University(Health Sciences) 2024;56(3):375-383
Objective:To explore the effects of short-term particulate matter(PM)exposure and the melatonin receptor 1B(MTNR1B)gene on triglyceride-glucose(TyG)index utilizing data from Fang-shan Family-based Ischemic Stroke Study in China(FISSIC).Methods:Probands and their relatives from 9 rural areas in Fangshan District,Beijing,were included in the study.PM data were obtained from fixed monitoring stations of the National Air Pollution Monitoring System.TyG index was calculated by fasting triglyceride and glucose concentrations.The associations of short-term PM exposure and rs10830963 polymorphism of the MTNR1B gene with the TyG index were assessed using mixed linear models,in which covariates such as age,sex,and lifestyles were adjusted for.Gene-environment inter-action analysis was furtherly performed using the maximum likelihood methods to explore the potential effect modifier role of rs10830963 polymorphism in the association of PM with TyG index.Results:A total of 4 395 participants from 2 084 families were included in the study,and the mean age of the study participants was(58.98±8.68)years,with 53.90%females.The results of association analyses showed that for every 10 μg/m3 increase in PM2.5 concentration,TyG index increased by 0.017(95%CI:0.007-0.027),while for per 10 μg/m3 increment in PM1o,TyG index increased by 0.010(95%CI:0.003-0.017).And the associations all had lagged effects.In addition,there was a positive association between the rs10830963 polymorphism and the TyG index.For per increase in risk allele G,TyG index was elevated by 0.040(95%CI:0.004-0.076).The TyG index was 0.079(95%CI:0.005-0.152)higher in carriers of the GG genotype compared with carriers of the CC genotype.The inter-action of rs10830963 polymorphism with PM exposure had not been found to be statistically significant in the present study.Conclusion:Short-term exposure to PM2.5 and PM10 were associated with higher TyG index.The G allele of rs10830963 polymorphism in the MTNR1B gene was associated with the elevated TyG index.
8.Gene-gene/gene-environment interaction of transforming growth factor-β signaling pathway and the risk of non-syndromic oral clefts
Tianjiao HOU ; Zhibo ZHOU ; Zhuqing WANG ; Mengying WANG ; Siyue WANG ; Hexiang PENG ; Huangda GUO ; Yixin LI ; Hanyu ZHANG ; Xueying QIN ; Yiqun WU ; Hongchen ZHENG ; Jing LI ; Tao WU ; Hongping ZHU
Journal of Peking University(Health Sciences) 2024;56(3):384-389
Objective:To explore the association between polymorphisms of transforming growth factor-β(TGF-β)signaling pathway and non-syndromic cleft lip with or without cleft palate(NSCL/P)among Asian populations,while considering gene-gene interaction and gene-environment interaction.Methods:A total of 1 038 Asian NSCL/P case-parent trios were ascertained from an international consortium,which conducted a genome-wide association study using a case-parent trio design to investigate the genes affec-ting risk to NSCL/P.After stringent quality control measures,343 single nucleotide polymorphism(SNP)spanning across 10 pivotal genes in the TGF-β signaling pathway were selected from the original genome-wide association study(GWAS)dataset for further analysis.The transmission disequilibrium test(TDT)was used to test for SNP effects.The conditional Logistic regression models were used to test for gene-gene interaction and gene-environment interaction.Environmental factors collected for the study in-cluded smoking during pregnancy,passive smoking during pregnancy,alcohol intake during pregnancy,and vitamin use during pregnancy.Due to the low rates of exposure to smoking during pregnancy and al-cohol consumption during pregnancy(<3%),only the interaction between maternal smoking during pregnancy and multivitamin supplementation during pregnancy was analyzed.The threshold for statistical significance was rigorously set at P=1.46 × 10-4,applying Bonferroni correction to account for multiple testing.Results:A total of 23 SNPs in 4 genes yielded nominal association with NSCL/P(P<0.05),but none of these associations was statistically significant after Bonferroni's multiple test correction.How-ever,there were 6 pairs of SNPs rs4939874(SMAD2)and rs1864615(TGFBR2),rs2796813(TGFB2)and rs2132298(TGFBR2),rs4147358(SMAD3)and rs1346907(TGFBR2),rs4939874(SMAD2)and rs1019855(TGFBR2),rs4939874(SMAD2)and rs12490466(TGFBR2),rs2009112(TGFB2)and rs4075748(TGFBR2)showed statistically significant SNP-SNP interaction(P<1.46 × 10-4).In contrast,the analysis of gene-environment interactions did not yield any significant results after being cor-rected by multiple testing.Conclusion:The comprehensive evaluation of SNP associations and interac-tions within the TGF-β signaling pathway did not yield any direct associations with NSCL/P risk in Asian populations.However,the significant gene-gene interactions identified suggest that the genetic architec-ture influencing NSCL/P risk may involve interactions between genes within the TGF-β signaling path-way.These findings underscore the necessity for further investigations to unravel these results and further explore the underlying biological mechanisms.
9.Exploring the Characteristics and Main Diseases of the String Pulse in Synopsis of Golden Chamber
Li TANG ; Hongfa CHENG ; Yawen ZHANG ; Xiaoyao GUO ; Hanyu WANG ; Ying ZHANG ; Qiuxia ZHANG ; Qiuyue YANG ; Xiaohui ZHANG ; Yahui XIE
World Science and Technology-Modernization of Traditional Chinese Medicine 2024;26(11):2853-2858
Objective Based on the original text of Synopsis of Golden Chamber,we summarized and analyzed the pulse manifestation,characteristics of disease location,nature and syndrome,and main diseases of the stringed pulse in order to provide a systematic reference for its clinical application.Methods The sentences containing"stringed pulse"were sorted out according to the order of chapters in Synopsis of Golden Chamber firstly.Then the characteristics of pulse manifestation and pathogenesis were summarized.Finally,its main diseases and clinical significance were analyzed.Results This study summarized characteristics of the stringed pulse manifestation in Synopsis of Golden Chamber:the pulse flexibility is as tight as a bow string,the pulse shapes are straight up and down.And characteristics of the string pulse pathogenesis:the disease location is mainly interior,located in the chest,abdomen,liver and ribs;the nature of disease mainly tends to cold syndrome and excess syndrome;the main symptom is pain.There are seven main diseases related to string pulse:disease with symptoms such as convulsion,opisthotonos,trismus;malaria;stagnation of qi in chest;cold abdominal colic;Fluid retention disease;gastric disorder causing nausea and spasm.Conclusion The characteristics and main diseases of the string pulse reflected in the Synopsis of the Golden Chamber embody the thinking mode of diagnosis and treatment based on disease,syndrome and pulse,which has had a profound impact on the theory of diagnosis and treatment in later generations.
10.Exploring the Characteristics and Main Diseases of the String Pulse in Synopsis of Golden Chamber
Li TANG ; Hongfa CHENG ; Yawen ZHANG ; Xiaoyao GUO ; Hanyu WANG ; Ying ZHANG ; Qiuxia ZHANG ; Qiuyue YANG ; Xiaohui ZHANG ; Yahui XIE
World Science and Technology-Modernization of Traditional Chinese Medicine 2024;26(11):2853-2858
Objective Based on the original text of Synopsis of Golden Chamber,we summarized and analyzed the pulse manifestation,characteristics of disease location,nature and syndrome,and main diseases of the stringed pulse in order to provide a systematic reference for its clinical application.Methods The sentences containing"stringed pulse"were sorted out according to the order of chapters in Synopsis of Golden Chamber firstly.Then the characteristics of pulse manifestation and pathogenesis were summarized.Finally,its main diseases and clinical significance were analyzed.Results This study summarized characteristics of the stringed pulse manifestation in Synopsis of Golden Chamber:the pulse flexibility is as tight as a bow string,the pulse shapes are straight up and down.And characteristics of the string pulse pathogenesis:the disease location is mainly interior,located in the chest,abdomen,liver and ribs;the nature of disease mainly tends to cold syndrome and excess syndrome;the main symptom is pain.There are seven main diseases related to string pulse:disease with symptoms such as convulsion,opisthotonos,trismus;malaria;stagnation of qi in chest;cold abdominal colic;Fluid retention disease;gastric disorder causing nausea and spasm.Conclusion The characteristics and main diseases of the string pulse reflected in the Synopsis of the Golden Chamber embody the thinking mode of diagnosis and treatment based on disease,syndrome and pulse,which has had a profound impact on the theory of diagnosis and treatment in later generations.

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