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| 1 | MicroRNAs in inflammatory bowel disease-pathogenesis,diagnostics and therapeutics显示文摘The pathogenesis of inflammatory bowel disease (IBD) is complex and largely unknown. Until recently, research has focused on the study of protein regulators in inflammation to reveal the cellular and molecular networks in the pathogenesis of IBD. However, in the last few years, new and promising insights have been generated from studies describing an association between an altered expression of a specific class of non-coding RNAs, called microRNAs (miRs or miRNAs) and IBD. The short (approximately 22 nucleotides), endogenous, single-stranded RNAs are evolutionary conserved inanimals and plants, and regulate specific target mRNAs at the post-transcriptional level. MiRNAs are involved in several biological processes, including development, cell differentiation, proliferation and apoptosis. Furthermore, it is estimated that miRNAs may be responsible for regulating the expression of nearly one-third of the genes in the human genome. Thus, miRNA deregulation often results in an impaired cellular function, and a disturbance of downstream gene regulation and signaling cascades, suggesting their implication in disease etiology. Despite the identification of more than 1900 mature human miRNAs, very little is known about their biological functions and functional targets. Recent studies have identified dysregulated miRNAs in tissue samples of IBD patients and have demonstrated similar differences in circulating miRNAs in the serum of IBD patients. Thus, there is great promise that miRNAs will aid in the early diagnosis of IBD, and in the development of personalized therapies. Here, we provide a short review of the current state-of-the-art of miRNAs in IBD pathogenesis, diagnostics and therapeutics. | Mehmet Coskun Jacob Tveiten Bjerrum Jakob Benedict Seidelin Ole Haagen Nielsen | 2012 | World Journal of Gastroenterology2012，18，34： | 18 |
| 2 | 载脂蛋白A5(ApoA5)基因多态性与动脉粥样硬化性脑梗死关系的研究显示文摘目的研究脑梗死患者的动脉粥样硬化程度和载脂蛋白A5(ApoA5)-1131T/C和553G/T两位点的关系。方法选取2011-12—2013-12间我院医学影像科计算机体层扫描和磁共振确诊的脑梗死患者156例,分析其颈总动脉(CCA)和颈内动脉(ICA)内膜厚度(IMT)与载脂蛋白A5(ApoA5)-1131T/C和553G/T两位点关系。结果在-1131T/C位点基因型中,CC患者颈总动脉内膜为(1.12±0.27)mm,TT+TC患者为(1.07±0.12)mm,差异无统计学意义(P>0.05)。CC患者颈内动脉内膜为(1.04±0.15)mm,TT+TC患者为(0.92±0.17)mm,差异有统计学意义(P<0.05);另外,在553G/T位点基因型中,GG患者颈总动脉内膜为(1.06±0.19)mm,TT+GT患者为(1.15±0.16)mm,差异有统计学意义(P<0.05);GG患者颈内动脉内膜为(0.94±0.15)mm,TT+GT患者为(0.97±0.21)mm,差异无统计学意义(P>0.05)。对2组不同基因组的不同基因型患者进行相关血脂水平鉴定,发现-1131T/C位点基因型的两种不同基因型的TG水平差异有统计学意义(P<0.05),其余基因型相比差异均无统计学意义(P>0.05)。对载脂蛋白A5(ApoA5)基因的常见单倍体配型不同的患者进行CCA IMT和ICA IMT的测量发现,4组基因型中ICA IMT差异有统计学意义(P<0.05)。结论载脂蛋白A5(ApoA5)基因对动脉粥样硬化脑梗死关系相对较大,值得进一步研究。 | 洪雁 周碧燕 李洁 梁智 张千 | 2015 | 中国实用神经疾病杂志2015，18，10： | 5 |
| 3 | Prediction of Crohn's disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort显示文摘AIM:To investigate the association between mutations in oligomerisation domain 2/caspase recruitment domains 15(NOD2/CARD15)and the natural history of Crohn’s disease(CD)to identify patients who would benefit from early aggressive medical intervention.METHODS:We recruited thirty consecutive unrelated CD patients with a history of ileo-caecal or small bowel resection during the period 1980-2000;Fifteen patients of these had post-operative relapse that required further surgery and fifteen did not.Full sequencing of the NOD2/CARD15 gene using dHPLC for exons 3,5,7,10 and 12 and direct sequencing for exons 2,4,6,8,9 and 11 was conducted.CD patients categorized as carrying variants were anyone with at least 1 variant of the NOD2/CARD15 gene.RESULTS:About 13.3%of the cohort(four patients)carried at least one mutant allele of 3020ins C of the NOD2/CARD15 gene.There were 20 males and 10females with a mean age of 43.3 years(range 25-69years).The mean follow up was 199.6 mo and a median of 189.5 mo.Sixteen sequence variations within the NOD2/CARD15 gene were identified,with 9 of them occurring with an allele frequency of greater than 10%.In this study,there was a trend to suggest that patients with the 3020ins C mutation have a higher frequency of operations compared to those without the mutation.Patients with the 3020insC mutation had a significantly shorter time between the diagnosis of CD and initial surgery.This study included Australian patients of ethnically heterogenous background unlike previous studies conducted in different countries.CONCLUSION:These findings suggest that patients carrying NOD2/CARD15 mutations follow a rapid and more aggressive form of Crohn’s disease showing a trend for multiple surgical interventions and significantly shorter time to early surgery. | Maneesha Bhullar Finlay Macrae Gregor Brown Margie Smith Ken Sharpe | 2014 | World Journal of Gastroenterology2014，20，17： | 1 |
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