Chronic hepatitis B virus (HBV) infection can cause a broad spectrum diseases, including from asymptomatic HBV carriers or cryptic hepatitis, to acute hepatitis, chronic hepatitis, Liver cirrhosis and primary hepatoce...Chronic hepatitis B virus (HBV) infection can cause a broad spectrum diseases, including from asymptomatic HBV carriers or cryptic hepatitis, to acute hepatitis, chronic hepatitis, Liver cirrhosis and primary hepatocellular carcinoma. The variable pattern and clinical outcome of the infection were mainly determined by virological itself factors, host immunological factors and genetic factors as well as the experimental factors. Among the human genetic factors, major candidate or identified genes involved in the process of HBV infection fall into the following categories: (1) genes that mediate the processes of viral entry into hepatocytes, induding genes involved in viral binding, fusion with cellular membrane and transportation in target cells; (2) genes that modulate or control the immune response to HBV infection; (3) genes that participate in the pathological alterations in liver tissue;(4) genes involved in the development of liver cirrhosis and hepatocellular carcinoma associated with chronic HBV infection, including genes related to mother-to-infant transmission of HBV infection; and (5) those that contribute to resistance to antiviral therapies. Most of the reports of human genes associated with HBV infection have currently focused on HLA associations. For example, some investigators reported the association of the HLA class Ⅱ alleles such as DRB1*1302 or HLA-DR13 or DQA1*0501-DQB1*0301-DQB1*1102 haplotypes with acute and/or chronic hepatitis B virus infection, respectively. Several pro-inflammatory cytokines such as Th1 cytokines (including IL-2 and IFN-γ)and TNF-α have been identified to participate the process of viral clearance and host immune response to HBV. In contrast, the Th2 cytokine IL-10 serves as a potent inhibitor of Th1 effector cells in HBV diseases. The MBP polymorphisms in its encoding region were found to be involved in chronic infection. Thus, reports from various laboratories have shown some inconsistencies with regard to the effects of host genetic factors on HBV clearance and pe展开更多
背景:关于股骨头坏死的发病机制国内外学者提出了各种学说:血运障碍、脂质代谢紊乱、骨内压增高、骨细胞凋亡、基因多态性、免疫因素等,但其具体发病机制仍不明确。目的:就股骨头坏死的发病机制研究进展作一综述,以期为研究股骨头坏死...背景:关于股骨头坏死的发病机制国内外学者提出了各种学说:血运障碍、脂质代谢紊乱、骨内压增高、骨细胞凋亡、基因多态性、免疫因素等,但其具体发病机制仍不明确。目的:就股骨头坏死的发病机制研究进展作一综述,以期为研究股骨头坏死的学者提供线索。方法:以"femoral head necrosis,osteonecrosis of femoral head,pathogenesis,mechanism"检索词在Pubmed、Embase、Medline等数据库检索1985至2017年的文献;以"股骨头坏死"、"发病机制"为检索词检索中国知网、万方及维普1985至2017年的文献,最终纳入39篇文献进行回顾性分析。结果与结论:股骨头坏死是多种因素共同作用导致的复杂疾病,生物力学因素在其发生发展过程中发挥重要作用。股骨头内部力学性能的减退或者各种危险因素导致的外界应力与股骨头内部结构不协调,引起内部骨小梁的微骨折,应力集中,反复破坏与修复,当破坏速度超过修复速度,股骨头最终发生塌陷。大部分股骨头坏死病例均为散发病例,但也有研究报道家族中多名成员患有特发性股骨头坏死,呈家族聚集性,股骨头坏死可能和遗传因素有关联。展开更多
目的分析湖南省湘潭市女性5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性的分布特征,并分析其多态性与血浆同型半胱氨酸(Hcy)水平的关系。方法以湘潭市1 701例女性为研究对象,检测其MT...目的分析湖南省湘潭市女性5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性的分布特征,并分析其多态性与血浆同型半胱氨酸(Hcy)水平的关系。方法以湘潭市1 701例女性为研究对象,检测其MTHFR C677T、A1298C和MTRR A66G位点基因多态性,并对其中110例孕期女性检测其血浆Hcy水平。统计分析本地区基因多态性的分布特征,并与淄博、郑州、烟台、镇江、松滋、惠州、琼海等地区进行比较;分析多态性与血浆Hcy水平的关系。结果湘潭市女性的MTHFR C677T位点TT纯合突变基因型频率为12.6%,高于惠州(10.9%)、琼海(6.1%),低于淄博(43.6%)、郑州(36.8%)、烟台(32.2%)、镇江(21.8%),差异均有统计学意义。与松滋相比差异无统计学意义。MTHFR A1298C位点CC纯合突变基因型频率为4.8%,低于琼海(7.1%)、高于淄博(1.4%)、郑州(2.4%)、烟台(1.8%)、镇江(3.5%)、松滋(2.6%),差异均有统计学意义。MTRR A66G位点GG纯合突变基因型频率为6.8%,高于淄博(4.8%),低于琼海(9.3%),差异有统计学意义。血浆Hcy浓度与MTHFR C677T位点基因型多态性有关,TT型人群Hcy浓度高于CT型人群和CC型人群(μmol/L:8.52±2.01 vs 5.94±1.47 vs 5.71±0.18);血浆Hcy浓度与MTHFR A1298C位点基因型多态性有关,CC型人群Hcy浓度高于AA型人群和AC型人群(μmol/L:9.83±2.26 vs 6.35±2.13 vs 5.55±1.75);血浆Hcy浓度与MTRR A66G位点基因型无关。结论湘潭市女性MTHFR和MTRR基因多态性频率不同于其他地区,具有地域特异性。MTHFR C677T、A1298C位点多态性与Hcy水平有关。展开更多
基金Key project grant from Natural Science Foundation of Beijing Municipal Government No:7011005
文摘Chronic hepatitis B virus (HBV) infection can cause a broad spectrum diseases, including from asymptomatic HBV carriers or cryptic hepatitis, to acute hepatitis, chronic hepatitis, Liver cirrhosis and primary hepatocellular carcinoma. The variable pattern and clinical outcome of the infection were mainly determined by virological itself factors, host immunological factors and genetic factors as well as the experimental factors. Among the human genetic factors, major candidate or identified genes involved in the process of HBV infection fall into the following categories: (1) genes that mediate the processes of viral entry into hepatocytes, induding genes involved in viral binding, fusion with cellular membrane and transportation in target cells; (2) genes that modulate or control the immune response to HBV infection; (3) genes that participate in the pathological alterations in liver tissue;(4) genes involved in the development of liver cirrhosis and hepatocellular carcinoma associated with chronic HBV infection, including genes related to mother-to-infant transmission of HBV infection; and (5) those that contribute to resistance to antiviral therapies. Most of the reports of human genes associated with HBV infection have currently focused on HLA associations. For example, some investigators reported the association of the HLA class Ⅱ alleles such as DRB1*1302 or HLA-DR13 or DQA1*0501-DQB1*0301-DQB1*1102 haplotypes with acute and/or chronic hepatitis B virus infection, respectively. Several pro-inflammatory cytokines such as Th1 cytokines (including IL-2 and IFN-γ)and TNF-α have been identified to participate the process of viral clearance and host immune response to HBV. In contrast, the Th2 cytokine IL-10 serves as a potent inhibitor of Th1 effector cells in HBV diseases. The MBP polymorphisms in its encoding region were found to be involved in chronic infection. Thus, reports from various laboratories have shown some inconsistencies with regard to the effects of host genetic factors on HBV clearance and pe
文摘背景:关于股骨头坏死的发病机制国内外学者提出了各种学说:血运障碍、脂质代谢紊乱、骨内压增高、骨细胞凋亡、基因多态性、免疫因素等,但其具体发病机制仍不明确。目的:就股骨头坏死的发病机制研究进展作一综述,以期为研究股骨头坏死的学者提供线索。方法:以"femoral head necrosis,osteonecrosis of femoral head,pathogenesis,mechanism"检索词在Pubmed、Embase、Medline等数据库检索1985至2017年的文献;以"股骨头坏死"、"发病机制"为检索词检索中国知网、万方及维普1985至2017年的文献,最终纳入39篇文献进行回顾性分析。结果与结论:股骨头坏死是多种因素共同作用导致的复杂疾病,生物力学因素在其发生发展过程中发挥重要作用。股骨头内部力学性能的减退或者各种危险因素导致的外界应力与股骨头内部结构不协调,引起内部骨小梁的微骨折,应力集中,反复破坏与修复,当破坏速度超过修复速度,股骨头最终发生塌陷。大部分股骨头坏死病例均为散发病例,但也有研究报道家族中多名成员患有特发性股骨头坏死,呈家族聚集性,股骨头坏死可能和遗传因素有关联。
文摘目的分析湖南省湘潭市女性5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性的分布特征,并分析其多态性与血浆同型半胱氨酸(Hcy)水平的关系。方法以湘潭市1 701例女性为研究对象,检测其MTHFR C677T、A1298C和MTRR A66G位点基因多态性,并对其中110例孕期女性检测其血浆Hcy水平。统计分析本地区基因多态性的分布特征,并与淄博、郑州、烟台、镇江、松滋、惠州、琼海等地区进行比较;分析多态性与血浆Hcy水平的关系。结果湘潭市女性的MTHFR C677T位点TT纯合突变基因型频率为12.6%,高于惠州(10.9%)、琼海(6.1%),低于淄博(43.6%)、郑州(36.8%)、烟台(32.2%)、镇江(21.8%),差异均有统计学意义。与松滋相比差异无统计学意义。MTHFR A1298C位点CC纯合突变基因型频率为4.8%,低于琼海(7.1%)、高于淄博(1.4%)、郑州(2.4%)、烟台(1.8%)、镇江(3.5%)、松滋(2.6%),差异均有统计学意义。MTRR A66G位点GG纯合突变基因型频率为6.8%,高于淄博(4.8%),低于琼海(9.3%),差异有统计学意义。血浆Hcy浓度与MTHFR C677T位点基因型多态性有关,TT型人群Hcy浓度高于CT型人群和CC型人群(μmol/L:8.52±2.01 vs 5.94±1.47 vs 5.71±0.18);血浆Hcy浓度与MTHFR A1298C位点基因型多态性有关,CC型人群Hcy浓度高于AA型人群和AC型人群(μmol/L:9.83±2.26 vs 6.35±2.13 vs 5.55±1.75);血浆Hcy浓度与MTRR A66G位点基因型无关。结论湘潭市女性MTHFR和MTRR基因多态性频率不同于其他地区,具有地域特异性。MTHFR C677T、A1298C位点多态性与Hcy水平有关。