Bykhovskaya Yelena, Gromova Anastasia, Makarenkova Helen P, Rabinowitz Yaron S
Regenerative Medicine Institute and Department of Surgery, Cedars-Sinai, USA.
Cornea Genetic Eye Institute, USA.
Int J Keratoconus Ectatic Corneal Dis. 2016 May-Aug;5(2):63-70. doi: 10.5005/jp-journals-10025-1123.
To identify changes in the expression of genes coding for extracellular matrix (ECM) proteins in patients with non-inflammatory corneal disorder keratoconus (KC), patients with corneal scarring, and normal controls.
Total RNA extracted from corneal tissue of 13 KC patients, 2 patients with corneal scaring and 4 normal controls was analyzed using Human Extracellular Matrix & Adhesion Molecules Profiler PCR Array. Statistically significant changes in gene expression were identified using the Data Analysis software.
Comparison of KC and control corneas with thresholds of 1.5 or greater fold change and a p-value of 0.05 or lower, revealed 21 differentially expressed genes, 16 genes were downregulated and 5 were upregulated. Among transcripts downregulated in KC patients we identified THBS1, ADAMTS1, SPP1, several collagens and integrins. We found TGFBI (BIGH3) gene was the most significantly upregulated transcript.
Development of keratoconus results in deregulation of gene expression of extracellular matrix and adhesion molecules.
Downregulation of collagens and upregulation of TGFBI repeatedly identified in KC patients may be used as clinical markers of the disease.
鉴定非炎性角膜疾病圆锥角膜（KC）患者、角膜瘢痕患者及正常对照者中细胞外基质（ECM）蛋白编码基因表达的变化。
使用人类细胞外基质与黏附分子分析PCR阵列，分析从13例KC患者、2例角膜瘢痕患者及4例正常对照者的角膜组织中提取的总RNA。使用数据分析软件鉴定基因表达的统计学显著变化。
将KC角膜与对照角膜进行比较，变化倍数阈值为1.5或更高且p值为0.05或更低，结果显示21个差异表达基因，其中16个基因下调，5个基因上调。在KC患者中下调的转录本中，我们鉴定出THBS1、ADAMTS1、SPP1、几种胶原蛋白和整合素。我们发现TGFBI（BIGH3）基因是上调最显著的转录本。
圆锥角膜的发展导致细胞外基质和黏附分子的基因表达失调。
在KC患者中反复鉴定出的胶原蛋白下调和TGFBI上调可作为该疾病的临床标志物。
