Networking Biomedical Research Center in Biomaterials, Bioengineering, and Nanomedicine in Valladolid (CIBER-BBN), Carlos III Health Institute, Ministry of Science and Innovation, Valladolid, Spain.
Invest Ophthalmol Vis Sci. 2011 Oct 28;52(11):8363-9. doi: 10.1167/iovs.11-7655.
To evaluate mRNA levels of the ocular mucins MUC1, MUC2, MUC4, MUC5AC, and MUC7 in conjunctival impression cytology samples from patients with moderate to severe dry eye syndrome (DES) compared with a population of healthy subjects; and to investigate the use of the levels of these mucin genes as biomarkers of DES and subsequently as a potential diagnostic test for DES.
This prospective study commenced in the year 2000 and ended in the year 2009. Thirty-eight patients with DES and 43 age- and sex-matched healthy subjects completed the initial part of the study. Investigations were repeated at a later stage in 16 healthy subjects and 30 patients with DES, which were used as external validation data. Conjunctival impression cytology was performed in all subjects to test gene expression of ocular mucin genes MUC1, MUC2, MUC4, MUC5AC, and MUC7. Statistical analysis was performed to determine whether there was a difference in the levels of mucin gene expression between the two groups of subjects. Sensitivity and specificity of mucin gene expression for the diagnosis of DES was calculated.
Expressions of MUC1, MUC2, MUC4, and MUC5AC (P < 0.0001) were significantly lower in conjunctival epithelium of patients with DES compared with that in normal subjects. These results were replicated in the external control subject and patient groups. MUC1 expression levels demonstrated the greatest sensitivity (83.3%) and specificity (87.5%) among all genes tested.
The data strongly suggest that the expression levels of MUC1 may be used as a diagnostic test in DES for investigational and selective clinical trials.
评估眼黏蛋白 MUC1、MUC2、MUC4、MUC5AC 和 MUC7 在患有中重度干燥综合征（DES）的患者的结膜印迹细胞学样本中的 mRNA 水平，并与健康人群进行比较；并研究这些黏蛋白基因水平作为 DES 的生物标志物，随后作为 DES 的潜在诊断测试。
这项前瞻性研究始于 2000 年，于 2009 年结束。38 名 DES 患者和 43 名年龄和性别匹配的健康受试者完成了研究的初始部分。在 16 名健康受试者和 30 名 DES 患者中对研究进行了后续阶段的重复，这些患者被用作外部验证数据。对所有受试者进行结膜印迹细胞学检查，以检测眼黏蛋白基因 MUC1、MUC2、MUC4、MUC5AC 和 MUC7 的基因表达。进行统计分析以确定两组受试者之间的黏蛋白基因表达水平是否存在差异。计算黏蛋白基因表达对 DES 诊断的敏感性和特异性。
与正常受试者相比，DES 患者的结膜上皮中 MUC1、MUC2、MUC4 和 MUC5AC 的表达（P<0.0001）明显降低。这些结果在外部对照受试者和患者组中得到了复制。在所有测试的基因中，MUC1 表达水平显示出最大的敏感性（83.3%）和特异性（87.5%）。
这些数据强烈表明，MUC1 的表达水平可以作为 DES 的诊断测试，用于研究性和选择性临床试验。
