目的通过Meta分析探讨信号转导和转录激活因子4(STAT4)基因rs7574865位点单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)易感性之间的关系。方法两名研究者分别检索Pub Med、Web of science、Scopus、中国知网和万方数据库,筛选出相关文献...目的通过Meta分析探讨信号转导和转录激活因子4(STAT4)基因rs7574865位点单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)易感性之间的关系。方法两名研究者分别检索Pub Med、Web of science、Scopus、中国知网和万方数据库,筛选出相关文献。用合并OR值和95%CI评价STAT4 rs7574865位点SNP与SLE易感性之间的关系。结果共纳入27篇研究,包含21 902例SLE患者和37 780例对照。Meta分析结果如下:等位基因模型(T vs G,OR=1.56,95%CI:1.49~1.63),纯合子模型(TT vs GG,OR=2.32,95%CI:2.08~2.58),杂合子模型(TG vs GG,OR=1.52,95%CI:1.41~1.64),显性遗传模型(TT/TG vs GG,OR=1.67,95%CI:1.55~1.79),隐性遗传模型(TT vs TG/GG,OR=1.83,95%CI:1.65~2.02)。按研究对象所在的地区进行亚组分析后显示,所有亚组中,rs7574865 SNP均与SLE易感性有关。结论 STAT4 rs7574865位点SNP与SLE的易感性有关,T等位基因的存在增加SLE的患病风险。展开更多
The expression of ectopic olfactory receptors （ORs） in melanized cells, such as the human brain nigrostri- atal dopaminergic neurons and skin melanocytes, is here pointed out. ORs are recognized to regulate skin mel...The expression of ectopic olfactory receptors （ORs） in melanized cells, such as the human brain nigrostri- atal dopaminergic neurons and skin melanocytes, is here pointed out. ORs are recognized to regulate skin melanogenesis, whereas OR expression in the dopaminergic neurons, characterized by accumulation of pigment neuromelanin, is downregulated in Parkinson＇s disease. Furthermore, the correlation between the pigmentation process and the dopamine pathway through ct-synuclein expression is also highlighted. Purposely, these ORs are suggested as therapeutic target for neurodegenerative diseases related to the pig- mentation disorders. Based on this evidence, a possible way of turning odorants into drugs, acting on three specific olfactory receptors, OR51E2, OR2AT4 and VN1R1, is thus introduced. Various odorous molecules are shown to interact with these ORs and their therapeutic potential against melanogenic and neurodegen- erative dysfunctions, including melanoma and Parkinson＇s disease, is suggested. Finally, a direct functional link between olfactory and endocrine systems in human brain through VNIR1 is proposed, helping to counteract female susceptibility to Parkinson＇s disease in quiescent life.展开更多
In Arabidopsis, an RNA-directed DNA methylation pathway （RdDM） is responsible for de novo establish- ment of DNA methylation and contributes to transcriptional gene silencing. Recently, the microrchidia （MORC）-typ...In Arabidopsis, an RNA-directed DNA methylation pathway （RdDM） is responsible for de novo establish- ment of DNA methylation and contributes to transcriptional gene silencing. Recently, the microrchidia （MORC）-type ATPases were shown to play essential roles in enforcing transcriptional gene silencing of a subset of genes and transposons by regulating the formation of higher-order chromatin architecture. How- ever, how MORC proteins cooperate with the RdDM pathway components to regulate gene expression re- mains largely unclear. In this study, SUVH9 and MORC6 were identified from a screening of suppressors of idml, which is a mutant defective in active DNA demethylation. SUVH9 and MORC6 are required for silencing of two reporter genes and some endogenous genes without enhancing DNA methylation levels. SUVH9, one of SU（VAR）3-9 homologs involved in RdDM, directly interacts with MORC6 and its two close homologs, MORC1 and MORC2. Similar to MORC6, SUVH9 and its homolog SUVH2 are required for hetero- chromatin condensation and formation of 3D chromatin architecture at SDC, and Solo-LTR loci. We propose that SUVH2 and SUVH9 bind to the methylated DNA and facilitate the recruitment of a chromatin- remodeling complex to the target loci in association with MORC proteins.展开更多
文摘目的通过Meta分析探讨信号转导和转录激活因子4(STAT4)基因rs7574865位点单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)易感性之间的关系。方法两名研究者分别检索Pub Med、Web of science、Scopus、中国知网和万方数据库,筛选出相关文献。用合并OR值和95%CI评价STAT4 rs7574865位点SNP与SLE易感性之间的关系。结果共纳入27篇研究,包含21 902例SLE患者和37 780例对照。Meta分析结果如下:等位基因模型(T vs G,OR=1.56,95%CI:1.49~1.63),纯合子模型(TT vs GG,OR=2.32,95%CI:2.08~2.58),杂合子模型(TG vs GG,OR=1.52,95%CI:1.41~1.64),显性遗传模型(TT/TG vs GG,OR=1.67,95%CI:1.55~1.79),隐性遗传模型(TT vs TG/GG,OR=1.83,95%CI:1.65~2.02)。按研究对象所在的地区进行亚组分析后显示,所有亚组中,rs7574865 SNP均与SLE易感性有关。结论 STAT4 rs7574865位点SNP与SLE的易感性有关,T等位基因的存在增加SLE的患病风险。
基金supported by the University of Ferrara(F72I15000470005)in the frame of the project FAR2014
文摘The expression of ectopic olfactory receptors （ORs） in melanized cells, such as the human brain nigrostri- atal dopaminergic neurons and skin melanocytes, is here pointed out. ORs are recognized to regulate skin melanogenesis, whereas OR expression in the dopaminergic neurons, characterized by accumulation of pigment neuromelanin, is downregulated in Parkinson＇s disease. Furthermore, the correlation between the pigmentation process and the dopamine pathway through ct-synuclein expression is also highlighted. Purposely, these ORs are suggested as therapeutic target for neurodegenerative diseases related to the pig- mentation disorders. Based on this evidence, a possible way of turning odorants into drugs, acting on three specific olfactory receptors, OR51E2, OR2AT4 and VN1R1, is thus introduced. Various odorous molecules are shown to interact with these ORs and their therapeutic potential against melanogenic and neurodegen- erative dysfunctions, including melanoma and Parkinson＇s disease, is suggested. Finally, a direct functional link between olfactory and endocrine systems in human brain through VNIR1 is proposed, helping to counteract female susceptibility to Parkinson＇s disease in quiescent life.
文摘In Arabidopsis, an RNA-directed DNA methylation pathway （RdDM） is responsible for de novo establish- ment of DNA methylation and contributes to transcriptional gene silencing. Recently, the microrchidia （MORC）-type ATPases were shown to play essential roles in enforcing transcriptional gene silencing of a subset of genes and transposons by regulating the formation of higher-order chromatin architecture. How- ever, how MORC proteins cooperate with the RdDM pathway components to regulate gene expression re- mains largely unclear. In this study, SUVH9 and MORC6 were identified from a screening of suppressors of idml, which is a mutant defective in active DNA demethylation. SUVH9 and MORC6 are required for silencing of two reporter genes and some endogenous genes without enhancing DNA methylation levels. SUVH9, one of SU（VAR）3-9 homologs involved in RdDM, directly interacts with MORC6 and its two close homologs, MORC1 and MORC2. Similar to MORC6, SUVH9 and its homolog SUVH2 are required for hetero- chromatin condensation and formation of 3D chromatin architecture at SDC, and Solo-LTR loci. We propose that SUVH2 and SUVH9 bind to the methylated DNA and facilitate the recruitment of a chromatin- remodeling complex to the target loci in association with MORC proteins.
