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.

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.

ObjectiveTo investigate the microbiological characteristics of bile in patients with common bile duct stones alone or comorbid with juxtapapillary duodenal diverticula （JPDD）. MethodsA prospective study was conducted among 30 patients with common bile duct stones who were admitted to Department of Gastroenterology， Hebei General Hospital， from January to May 2024， and according to the presence or absence of JPDD， they were divided into JPDD group and simple common bile duct stones group （CBD group）， with 15 patients in each group. Bile samples were collected during endoscopic retrograde cholangiopancreatography， and 16S rRNA microbial sequencing was performed to compare the differences in microbial composition， diversity， and metabolic pathways between the two groups. The independent-samples t test was used for comparison of normally distributed continuous data between two groups， and the Mann-Whitney U rank sum test was used for comparison of non-normally distributed continuous data between two groups； the chi-square test or the Fisher’s exact test was used for comparison of categorical data between two groups. Pearson correlation analysis or Spearman correlation analysis was used to analyze the correlation between clinical indicators and microbial species abundance. ResultsClinical data showed that compared with the CBD group， the JPDD group had significantly greater maximum diameter of stones （10.87±3.42 mm vs 6.80±2.08 mm， t=3.94， P0.01） and common bile duct diameter （14.73±3.95 mm vs 9.67±2.64 mm， t=4.13， P0.01）. The microbiological analysis of the bile showed that Proteobacteria， Bacteroidetes， Firmicutes， and Actinobacteria were the most common phyla in both groups， and Proteobacteria was the dominate phylum in the JPDD group. At the genus and species levels， the JPDD group had higher relative abundances of Escherichia-Shigella， Enterococcus， and Escherichia coli. Alpha diversity was similar between the two groups， and there was a significant difference in beta diversity between the two groups （Adonis test， P0.05）. The LEfSe analysis identified 25 differentially expressed species （LDA2） between the two groups， and the JPDD group had enrichment of 7 flora such as Enterobacter， Enterococcaceae， and Klebsiella， while the CBD group had significant enrichment of 18 flora such as Peptococcaceae， Roseburia， and Alistipes （P0.05）. The correlation analysis showed that Enterococcaceae and Enterococcus significantly enriched in the JPDD group were positively correlated with the diameter of the common bile duct and the maximum diameter of stones （P0.01）， whereas Peptococcaceae， Acinetobacter， and Alistipes with reductions in expression were negatively correlated with the diameter of the common bile duct and the maximum diameter of stones （P0.05）. The enrichment analysis of biliary microbial metabolic pathways showed that there were significant differences between the two groups in 10 metabolic pathways such as cell growth and death， transportation and decomposition， nervous system， biosynthesis of valine， leucine， and isoleucine， and histidine metabolism （P0.05）. ConclusionThe presence of JPDD may lead to alterations in bile microbiota， such as an increase in Enterococcus and a reduction in Roseburia， and specific flora and metabolism can promote the formation of common bile duct stones.

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.

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.

Objective To investigate the prognostic value of echocardiography indicators combined with se-rum recombinant human arginase 1(ARG1)and glucose-6-phosphate dehydrogenase(G6PD)in children with sepsis.Methods A total of 116 children with sepsis admitted to the hospital from May 2022 to June 2023 were enrolled in the study as the sepsis group.According to the severity of sepsis,the children were further divided into general sepsis group(52 cases),severe sepsis group(38 cases)and septic shock group(26 cases).Ac-cording to the prognosis of the children,the children with sepsis were divided into good prognosis group(84 cases)and poor prognosis group(32 cases).A total of 116 healthy children who underwent physical examina-tion in the hospital during the same period were enrolled as the control group.The left ventricular ejection fraction(LVEF),left ventricular end-diastolic diameter(LVEDD),left ventricular end-diastolic volume(LV-EDV)and early diastolic mitral flow peak velocity(E)were detected by using color Doppler ultrasound.Ser-um ARG1 and G6PD levels were detected by using enzyme-linked immunosorbent assay(ELISA).The echo-cardiographic indexes and serum ARG1 and G6PD levels were compared between the sepsis group and the con-trol group,and among sepsis children with different disease severity and different prognosis.The receiver op-erating characteristic(ROC)curve was used to analyze the predictive value of echocardiographic indexes com-bined with serum ARG1 and G6PD for poor prognosis in children with sepsis.Results Compared with the control group,the sepsis group had significant reductions in LVEF,E,and G6PD(P＜0.05)and significant increases in LVEDD,LVEDV,and ARG1(P＜0.05).With the aggravation of sepsis,the levels of LVEF,E,and G6PD in children with sepsis gradually decreased(P＜0.05),while the levels of LVEDD,LVEDV,and ARG1 gradually increased(P＜0.05).Compared with the good prognosis group,the poor prognosis group had significantly lower levels of LVEF,E,and G6PD(P＜0.05)and significantly higher levels of LVEDD,LV-EDV,and ARG1(P＜0.05).ROC curve analysis showed that the AUC of echocardiographic indexes com-bined with serum ARG1 and G6PD in predicting poor prognosis of children with sepsis was 0.971,and the sensitivity and specificity were 84.4％and 83.2％,respectively.Conclusion The levels of LVEF,E,and G6PD in children with sepsis significantly decreases,and the levels of LVEDD,LVEDV,and ARG1 signifi-cantly increases.Echocardiographic parameters combined with serum ARG1 and G6PD have high predictive value for poor prognosis in children with sepsis.

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.

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.

Objective To study the drug dosage and time dependency characteristics of high-fructose-high-fat-feeding plus dexamethason for inducing the mouse acute fatty liver model and to optimize the condition of drug induced fatty liver model.Methods Male KM mice were divided into the normal control group and high-fructose-high-fat-feeding plus peritoneal injection of dexamethason group.The mice were killed at 3 different time points.The mouse body mass and liver mass were detected.The liver index was calculated.The serum and liver tissue homogenate TG and serum glucose(GLU) levels were detected.The liver tissue pathological change was observed by HE staining.Total RNA reverse expression related gene was extracted from the liver tissue.The total protein was extracted from the liver tissue and the related protein expression was detected by Western Blot.Results Compared with the control group,blood and liver homogenate TG after 7 d in the dexamethason model group was increased,the liver index was increased,the pathological section displayed that the fatty liver was formed.RT-PCR showed that lipid metabolism related gene expression had obvious change.Western Blot showed that SIRT1 was significantly decreased.But with the dexamethason dosage decrease and time extending,the fatty liver related indexes were decreased,lipid metabolic gene PPAR,FOXO3 and FXR were gradually increased,while LXR was gradually decreased and protein SIRT1 was gradually increased.Conclusion High-fructose-high-fatfeeding plus peritoneal injection of dexamethason could establish the mouse acute fatty liver model,moreover the model maintenance has dependency on dexamethason dosage and medication time,which has a guidance significance for the drug interventional experiment.