1.Identifying genetic etiology of ischemic stroke based on pleiotropy of obesity related genes:A sibling study
Kun WANG ; Huairong WANG ; Huan YU ; Ruotong YANG ; Liuyan ZHENG ; Jingxian WU ; Xueying QIN ; Tao WU ; Dafang CHEN ; Yiqun WU ; Yonghua HU
Journal of Peking University(Health Sciences) 2025;57(3):448-455
Objective:To identify genetic etiology of ischemic stroke(IS)based on pleiotropy of obe-sity related genes.Methods:A discordant sib-pair study was designed based on the Fangshan family co-hort in Beijing.Body mass index(BMI)polygenic risk score(PRS)was first constructed under different P values.Using the polygenic transmission disequilibrium test(pTDT),we then compared the actual BMI genetic risk of siblings with IS to their expected risk,to analyze whether higher BMI was over-trans-mitted to siblings with IS.The single nucleotide polymorphism(SNP)that comprised the PRS over-trans-mitted with IS and that corresponded to the highest heritability of IS were identified as a pleiotropy SNPs set between BMI and IS.This set was then utilized as a candidate set to identify and verify risk SNPs as-so-ciated IS by transmission disequilibrium test.Finally,we identified independent genomic risk loci and mapped to genes,we then explored the biological function of the identified risk loci and genes by func-tional annotation and pathway enrichment.Results:A total of 541 participants were enrolled,with an average age of(58.4±8.1)years,including 326 discordant sib pairs of ischemic stroke.Compared with non-IS participants,IS participants with males,education level below junior high school,hypertension and hyperlipidemia accounted for a higher proportion(P<0.05).For all the BMI PRS,we found that the actual genetic risk of BMI in siblings with IS was higher than their expectation,suggesting that genetic risk associated with high BMI was over-transmitted with IS.Compared with other SNP sets,the set(P<5 × 10-4)corresponded to the best analytical statistics of pTDT and the highest heritability of IS and was identified as the pleiotropy SNP set between BMI and IS.Within this set,there were 45 SNPs having linkage and association with IS,which were located in 43 independent genomic risk loci and mapped to 40 genes.These genes were significantly enriched in the lipid metabolism pathway.The rs2232852 cor-rected by multiple tests was mapped to CYB5R1 and ADIPOR1,which were related to lipid metabolism and the ferroptosis pathway.Conclusion:Pleiotropy between BMI-related genes and IS was observed.Forty-five SNPs were found with linkage and association with IS in the pleiotropy gene set and mapped to 40 genes,which were functionally enriched in lipid metabolic pathways.The rs2232852 corrected by multiple tests during association analysis validation was mapped to CYB5R1 and ADIPOR1,which were related to lipid metabolism and the ferroptosis pathway,suggesting that lipid metabolism and ferroptosis played an important role in the development of IS.
2.Identifying genetic etiology of ischemic stroke based on pleiotropy of obesity related genes:A sibling study
Kun WANG ; Huairong WANG ; Huan YU ; Ruotong YANG ; Liuyan ZHENG ; Jingxian WU ; Xueying QIN ; Tao WU ; Dafang CHEN ; Yiqun WU ; Yonghua HU
Journal of Peking University(Health Sciences) 2025;57(3):448-455
Objective:To identify genetic etiology of ischemic stroke(IS)based on pleiotropy of obe-sity related genes.Methods:A discordant sib-pair study was designed based on the Fangshan family co-hort in Beijing.Body mass index(BMI)polygenic risk score(PRS)was first constructed under different P values.Using the polygenic transmission disequilibrium test(pTDT),we then compared the actual BMI genetic risk of siblings with IS to their expected risk,to analyze whether higher BMI was over-trans-mitted to siblings with IS.The single nucleotide polymorphism(SNP)that comprised the PRS over-trans-mitted with IS and that corresponded to the highest heritability of IS were identified as a pleiotropy SNPs set between BMI and IS.This set was then utilized as a candidate set to identify and verify risk SNPs as-so-ciated IS by transmission disequilibrium test.Finally,we identified independent genomic risk loci and mapped to genes,we then explored the biological function of the identified risk loci and genes by func-tional annotation and pathway enrichment.Results:A total of 541 participants were enrolled,with an average age of(58.4±8.1)years,including 326 discordant sib pairs of ischemic stroke.Compared with non-IS participants,IS participants with males,education level below junior high school,hypertension and hyperlipidemia accounted for a higher proportion(P<0.05).For all the BMI PRS,we found that the actual genetic risk of BMI in siblings with IS was higher than their expectation,suggesting that genetic risk associated with high BMI was over-transmitted with IS.Compared with other SNP sets,the set(P<5 × 10-4)corresponded to the best analytical statistics of pTDT and the highest heritability of IS and was identified as the pleiotropy SNP set between BMI and IS.Within this set,there were 45 SNPs having linkage and association with IS,which were located in 43 independent genomic risk loci and mapped to 40 genes.These genes were significantly enriched in the lipid metabolism pathway.The rs2232852 cor-rected by multiple tests was mapped to CYB5R1 and ADIPOR1,which were related to lipid metabolism and the ferroptosis pathway.Conclusion:Pleiotropy between BMI-related genes and IS was observed.Forty-five SNPs were found with linkage and association with IS in the pleiotropy gene set and mapped to 40 genes,which were functionally enriched in lipid metabolic pathways.The rs2232852 corrected by multiple tests during association analysis validation was mapped to CYB5R1 and ADIPOR1,which were related to lipid metabolism and the ferroptosis pathway,suggesting that lipid metabolism and ferroptosis played an important role in the development of IS.
3.Changes of quantitative CT indexes in chronic obstructive pulmonary disease patients and correlations with pulmonary function indicators
Xiaona YANG ; Ting GAO ; Jiaxin ZHOU ; Xiao SUN ; Huairong ZHANG ; Yifan WANG ; Li ZHU
Chinese Journal of Medical Imaging Technology 2024;40(1):62-67
Objective To observe changes of CT quantitative indexes in patients with untreated chronic obstructive pulmonary disease(COPD)and relationships with pulmonary function indicators.Methods Totally 99 patients with untreated COPD were retrospectively enrolled.According to the degrees of airflow obstruction,the patients were divided into group A(GOLD grade 1 with mild obstruction,n=36),group B(GOLD 2 with moderate obstruction,n=37)and group C(GOLD 3 or 4 with obvious obstruction,n=26).The results of chest CT and pulmonary function tests conducted at the first diagnosis and the follow-up,as well as their correlations were analyzed.CT quantitative indicators included the whole lung volume,low-attenuation areas less than-950 percentage(LAA%),total number of vessels per 1 cm2 of lung surface area(Ntotal/LSA),total number of vessels with area less than 5 mm2 per 1 cm2 of lung surface area(N<5mm2/LSA),the square root of the wall area of a hypothetical airway with a 10 mm internal perimeter(Pi10),the entire volume,wall thickness and wall area percentage(WA%)of airway wall,etc.,while results of pulmonary function tests included the forced expiratory volume in one second(FEV1)after administration of a bronchodilator,forced vital capacity(FVC),the ratio FEV1/FVC and FEV1 expressed as percent predicted(FEV1%).Results Compared with those at the first diagnosis,the follow-up results of FVC,FEV1,FEV1/FVC,Ntotal/LSA and N<5mm2/LSA were lower,whereas LAA%,Pi10 and entire volume of airway were all higher in each group(all P<0.05).Compared with those in group A,group B and C had decreased LAA%and increased Pi10,and the magnitude increased with the severity of airflow obstruction(all P<0.05).LAA%,Pi1o and entire volume of airway wall were negatively correlated with pulmonary function indicators(all P<0.05),while Ntotal/LSA and N<5 mm2/LSA were positively correlated with pulmonary function indicators(all P<0.05).Conclusion CT quantitative parameters,including LAA%,Ntotal/LSA,N<5mm2/LSA,Pi10 and entire volume of airway wall were related to pulmonary function,which might reflect the longitudinal changes of airways and blood vessels in COPD patients.
4.Application research on multi-mode teaching guided by objective management in the standardized training of nursing students in the department of oncology
Yue LIU ; Yulu XIE ; Huairong YANG ; Tingting ZOU ; Ge WANG
Chinese Journal of Medical Education Research 2023;22(2):302-306
Objective:To explore the application effect of multi-mode teaching guided by objective management in the standardized training of nursing students.Methods:A total of 39 standardized training nursing students from April 2019 to April 2020 in the department of oncology of a tertiary hospital were selected as the control group by cluster sampling method and they received traditional teaching; 40 standardized nursing students in the department of oncology from June 2020 to June 2021 were selected as the experimental group and the group adopted multi-mode teaching guided by objective management. The differences of theoretical and operational assessment scores, teaching satisfaction, critical thinking ability and nurse-patient communication ability between the two groups were studied. SPSS 20.0 was used for t-test and Chi-square test. Results:The scores of theoretical assessment [(86.17±3.74) vs. (83.92±4.93)] and operational assessment [(92.83±2.19) vs. (90.74±3.52)] in the experimental group were higher than those in the control group, and the differences were statistically significant ( P<0.05). The teaching satisfaction of the experimental group was higher than that of the control group [(46.10±2.96) vs. (42.67±2.45)], and the difference was statistically significant ( P<0.05). There were statistically significant differences in critical thinking, intellectual curiosity and analytical skills ( P<0.05). In terms of nurse-patient communication ability, except that there was no difference in collecting information, the rest were statistically significant( P<0.05). Conclusion:Multi-mode teaching guided by objective management can improve the theoretical and operational ability of nurses, nurse-patient communication ability, and teaching satisfaction.
5.Study on the relationship among brachial-ankle pulse wave velocity, serum homocysteine, serum matrix metallopro teinases-9 and coronary heart disease
Chengli YAO ; Huairong LIU ; Yizhou YANG ; Jing LIU ; Min LU ; Xing ZHAO
Clinical Medicine of China 2013;(1):1-4
Objective To investigate relationship among Brachial-ankle pulse Wave Velocity (baPWV),Homocysteine (Hcy),Serum Matrix Metallopro Teinases-9 (MMP-9) and coronary heart disease.Methods Sixty-six cases of patients diagnosed as coronary heart disease according to the coronary angiography showed any one of the main coronary arteries (left main,left anterior descending,left circumflex artery,right coronary artery) diameter stenosis≥ 50% were selected into coronary heart disease from June 2009to March 2011 hospitalized in the Second Affiliated Hospital of Ningxia Medical Cardiology.And 40 cases of healthy people who had medical examination over the same period were selected into the normal control group.The 66 cases of patients were further divided into single-branch-affected group (n =18),two-branchaffected group(n =25) and multi-branch-affected group (n =23) according to the branches of coronary artery pathological changes shown in coronary angiography.Detected and compared baPWV,Hcy and MMP-9 among these groups.Results The baPWV,Hcy and MMP-9 in coronary heart disease group were significantly higher than those in the control group (baPWV:(2132 ±240) cm/s vs (1360 ±81) cm/s,t =23.97,P <0.01 ;Hcy:(14.32 ± 5.20) μmol/L vs (6.50 ± 1.40) μmol/L,t =11.54,P < 0.01 ; MMP-9:(768.0 ± 95.3) μg/L vs (228.0 ±56.2) μg/L,t =36.69,P <0.01) ;The baPWV,Hcy and MMP-9 in multi-branch-affected group were significantly higher than those in single-branch-affected and two-branch-affected group; The baPWV,Hcy and MMP-9 in two-branch-affected group were higher than those in single-branch-affected group (baPWV (2041 ±168) cm/s vs (1873 ± 150) cm/s vs (1560 ± 172) cm/s,F =45.36,P <0.01 ;Hcy:(21.31 ±6.30) μmol/L vs (15.32 ± 5.80) μmol/L vs (10.50 ± 3.20) μmol/L,F =36.18,P < 0.01 ;MMP-9:(1042.0 ± 180.2) μg/L vs (940.0 ± 175.8) μg/L vs (723.0 ± 102.2) μg/L,F =41.06,P < 0.01).The serum MMP-9 was significantly positive correlated with baPWV and Hcy (r =0.630,P <0.01 ;r =0.351,P <0.05) ;The Hcy was significantly positive correlated with baPWV (r =0.475,P < 0.05) in the coronary heart disease group.Conclusion The baPWV,Hey and MMP-9 were related with the degree of artery stenosis in coronary heart disease.Combined detection of these three markers can be used to assess the risk of coronary heart disease.

Result Analysis
Print
Save
E-mail