Objective:Polycystic ovary syndrome(PCOS)is a common endocrine disorder that affects women’s health.This study aims to investigate gene and transcription factor(TF)expression differences between PCOS patients and hea...Objective:Polycystic ovary syndrome(PCOS)is a common endocrine disorder that affects women’s health.This study aims to investigate gene and transcription factor(TF)expression differences between PCOS patients and healthy individuals using bioinformatics approaches,and to verify the function of key transcription factors,with the goal of providing new insights into the pathogenesis of PCOS.Methods:Differentially expressed genes(DEGs)and differentially expressed transcription factors(DETFs)between PCOS patients and controls were identified from the RNA sequencing dataset GSE168404 using bioinformatics methods.Functional enrichment analysis was performed using Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)databases.The expression and function of core transcription factors were further validated in ovarian tissues of PCOS model mice and control mice using Western blotting and reverse transcription quantitative polymerase chain reaction(RTqPCR).Results:A total of 332 DEGs were identified between PCOS patients and controls,including 259 upregulated and 73 downregulated genes in the PCOS group.19 DETFs were further screened,of which 16 were upregulated and 3 were downregulated in PCOS.The upregulated DETFs(including TFCP2L1,DACH1,ESR2,AFF3,SMAD9,ZNF331,HOPX,ATOH8,HIF3α,DPF3,HOXC4,HES1,ID1,JDP2,SOX4,and ID3)were primarily associated with lipid metabolism,development,and cell adhesion.Protein and mRNA expression analysis in PCOS model mice revealed significantly decreased levels of hypoxia-inducible factor(HIF)1αand HIF2α,and significantly increased expression of HIF3αcompared to control mice(all P<0.001).Conclusion:Significant differences in gene and TF expression exist between PCOS patients and healthy individuals.HIF-3αmay play a crucial role in PCOS and could serve as a novel biomarker for diagnosis and a potential therapeutic target.展开更多
目的:既往研究揭示了嗜酸性粒细胞与变应性鼻炎之间的相关性,但其因果关系尚未得到充分证实。本研究采用孟德尔随机化(Mendelian randomization,MR)方法对血嗜酸性粒细胞与变应性鼻炎之间的因果联系进行评估。方法:先汇总嗜酸性粒细胞计...目的:既往研究揭示了嗜酸性粒细胞与变应性鼻炎之间的相关性,但其因果关系尚未得到充分证实。本研究采用孟德尔随机化(Mendelian randomization,MR)方法对血嗜酸性粒细胞与变应性鼻炎之间的因果联系进行评估。方法:先汇总嗜酸性粒细胞计数(暴露变量)和变应性鼻炎(结局变量)的基因组关联研究(Genome-Wide Association Study Catalog,GWAS)数据,其中暴露变量的GWAS数据来源于布里斯托大学的综合流行病学部门(Integrative Epidemiology Unit,IEU)所开发的IEU Open GWAS Project,结局变量的GWAS数据则来源于芬兰基因生物银行(FinnGen Biobank)数据库;再采用逆方差加权(inverse variance weighted,IVW)的双样本MR方法分析嗜酸性粒细胞与变应性鼻炎的因果关系,并通过加权中位数法、MR-Egger回归法、留一法(leave-one-out)和漏斗图来进行敏感性分析。结果:血嗜酸性粒细胞计数的增加与变应性鼻炎风险的增加存在潜在因果关系(OR=1.187,95%CI 1.051~1.341,P=0.006)。加权中位数法和MR-Egger回归法也得到相同的结果。留一法结果显示没有单个单核苷酸多态性对因果推断产生显著影响。结论:嗜酸性粒细胞计数的增加与变应性鼻炎风险的增加或病情的加重有因果关联。展开更多
目的:压力性损伤(pressure injury,PI)患者的非正式照顾者的认知及照顾行为水平暂缺科学性测量工具,本研究拟编制PI患者非正式照顾者知信行量表,并对其进行信效度检验。方法:以知信行理论为框架,结合相关文献与专家头脑风暴,拟定量表初...目的:压力性损伤(pressure injury,PI)患者的非正式照顾者的认知及照顾行为水平暂缺科学性测量工具,本研究拟编制PI患者非正式照顾者知信行量表,并对其进行信效度检验。方法:以知信行理论为框架,结合相关文献与专家头脑风暴,拟定量表初始条目池;经过德尔菲专家函询、预调查,形成初始量表。于2023年4至10月便利选取中南大学湘雅三医院住院部及其合作社区、长沙红枫康复医院的PI患者非正式照顾者进行调查,第1次纳入186名、第2次纳入213名进行量表项目分析及信效度检验;间隔3周,随机抽取已调查的20名重测,检验量表的重测信度。结果:PI患者非正式照顾者知信行量表共3个维度,19个条目。总量表内部一致性克龙巴赫α系数为0.916,量表所有条目水平的内容效度指数(item level-content validity index,I-CVI)为0.826~1.000,平均量表水平的内容效度指数(scale level-content validity index/average,S-CVI/Ave)为0.94。探索性因子分析提取3个公因子,累计方差贡献率为64.643%。验证性因子分析显示χ~2/df=2.54,近似误差的均方根(root mean square error of approximation,RMSEA)=0.085,比较拟合指数(comparative fit index,CFI)=0.920,标准化均方根残差(standardized root mean square residual,SRMR)=0.059,模型与数据整体适配良好。结论:PI患者非正式照顾者知信行量表具有较好的信度和效度,可用于非正式照顾者PI知信行水平的评估。展开更多
白细胞介素-33(interleukin-33,IL-33)是IL-1家族的一位新成员,其不仅可以在细胞核内作为核因子发挥作用,也可以被损伤或坏死的细胞释放到细胞外作为细胞因子发挥作用。被释放的IL-33通过由特异性受体肿瘤发生抑制子2(suppression of tu...白细胞介素-33(interleukin-33,IL-33)是IL-1家族的一位新成员,其不仅可以在细胞核内作为核因子发挥作用,也可以被损伤或坏死的细胞释放到细胞外作为细胞因子发挥作用。被释放的IL-33通过由特异性受体肿瘤发生抑制子2(suppression of tumorigenicity 2,ST2)及IL-1受体辅助蛋白(interleukin 1 receptor auxiliary protein,IL-1RAcP)组成的异构体激活下游的NF-κB和MAPKs信号通路,进一步激活多种免疫反应。IL-33在多种肿瘤(如肺癌、乳腺癌、结直肠癌等)中异常表达,参与肿瘤的发生、发展和转移,甚至在同一类肿瘤中同时发挥促肿瘤和抗肿瘤的双重作用。展开更多
基金supported by the Natural Science Foundation of Hunan Province,China(2022JJ30886).
文摘Objective:Polycystic ovary syndrome(PCOS)is a common endocrine disorder that affects women’s health.This study aims to investigate gene and transcription factor(TF)expression differences between PCOS patients and healthy individuals using bioinformatics approaches,and to verify the function of key transcription factors,with the goal of providing new insights into the pathogenesis of PCOS.Methods:Differentially expressed genes(DEGs)and differentially expressed transcription factors(DETFs)between PCOS patients and controls were identified from the RNA sequencing dataset GSE168404 using bioinformatics methods.Functional enrichment analysis was performed using Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)databases.The expression and function of core transcription factors were further validated in ovarian tissues of PCOS model mice and control mice using Western blotting and reverse transcription quantitative polymerase chain reaction(RTqPCR).Results:A total of 332 DEGs were identified between PCOS patients and controls,including 259 upregulated and 73 downregulated genes in the PCOS group.19 DETFs were further screened,of which 16 were upregulated and 3 were downregulated in PCOS.The upregulated DETFs(including TFCP2L1,DACH1,ESR2,AFF3,SMAD9,ZNF331,HOPX,ATOH8,HIF3α,DPF3,HOXC4,HES1,ID1,JDP2,SOX4,and ID3)were primarily associated with lipid metabolism,development,and cell adhesion.Protein and mRNA expression analysis in PCOS model mice revealed significantly decreased levels of hypoxia-inducible factor(HIF)1αand HIF2α,and significantly increased expression of HIF3αcompared to control mice(all P<0.001).Conclusion:Significant differences in gene and TF expression exist between PCOS patients and healthy individuals.HIF-3αmay play a crucial role in PCOS and could serve as a novel biomarker for diagnosis and a potential therapeutic target.
文摘目的:既往研究揭示了嗜酸性粒细胞与变应性鼻炎之间的相关性,但其因果关系尚未得到充分证实。本研究采用孟德尔随机化(Mendelian randomization,MR)方法对血嗜酸性粒细胞与变应性鼻炎之间的因果联系进行评估。方法:先汇总嗜酸性粒细胞计数(暴露变量)和变应性鼻炎(结局变量)的基因组关联研究(Genome-Wide Association Study Catalog,GWAS)数据,其中暴露变量的GWAS数据来源于布里斯托大学的综合流行病学部门(Integrative Epidemiology Unit,IEU)所开发的IEU Open GWAS Project,结局变量的GWAS数据则来源于芬兰基因生物银行(FinnGen Biobank)数据库;再采用逆方差加权(inverse variance weighted,IVW)的双样本MR方法分析嗜酸性粒细胞与变应性鼻炎的因果关系,并通过加权中位数法、MR-Egger回归法、留一法(leave-one-out)和漏斗图来进行敏感性分析。结果:血嗜酸性粒细胞计数的增加与变应性鼻炎风险的增加存在潜在因果关系(OR=1.187,95%CI 1.051~1.341,P=0.006)。加权中位数法和MR-Egger回归法也得到相同的结果。留一法结果显示没有单个单核苷酸多态性对因果推断产生显著影响。结论:嗜酸性粒细胞计数的增加与变应性鼻炎风险的增加或病情的加重有因果关联。
文摘目的:压力性损伤(pressure injury,PI)患者的非正式照顾者的认知及照顾行为水平暂缺科学性测量工具,本研究拟编制PI患者非正式照顾者知信行量表,并对其进行信效度检验。方法:以知信行理论为框架,结合相关文献与专家头脑风暴,拟定量表初始条目池;经过德尔菲专家函询、预调查,形成初始量表。于2023年4至10月便利选取中南大学湘雅三医院住院部及其合作社区、长沙红枫康复医院的PI患者非正式照顾者进行调查,第1次纳入186名、第2次纳入213名进行量表项目分析及信效度检验;间隔3周,随机抽取已调查的20名重测,检验量表的重测信度。结果:PI患者非正式照顾者知信行量表共3个维度,19个条目。总量表内部一致性克龙巴赫α系数为0.916,量表所有条目水平的内容效度指数(item level-content validity index,I-CVI)为0.826~1.000,平均量表水平的内容效度指数(scale level-content validity index/average,S-CVI/Ave)为0.94。探索性因子分析提取3个公因子,累计方差贡献率为64.643%。验证性因子分析显示χ~2/df=2.54,近似误差的均方根(root mean square error of approximation,RMSEA)=0.085,比较拟合指数(comparative fit index,CFI)=0.920,标准化均方根残差(standardized root mean square residual,SRMR)=0.059,模型与数据整体适配良好。结论:PI患者非正式照顾者知信行量表具有较好的信度和效度,可用于非正式照顾者PI知信行水平的评估。
基金the Key Research and Development Program of Hunan province(2020WK2008)the Talent Scholars of Hunan Province for the Innovation of Science and Technology(2020RC5002)the Natural Science Foundation of Hunan Province(2021JJ31130,2020JJ5903),China.
