Department of Genetics, University of North Carolina at Chapel Hill, NC, USA.
Psychiatry Res. 2013 Nov 30;210(1):287-93. doi: 10.1016/j.psychres.2013.05.026. Epub 2013 Jun 15.
We examined gene expression in the blood of six females with anorexia nervosa (AN) before and after weight restoration using RNAseq. AN cases (aged 19-39) completed clinical assessments and had blood drawn for RNA at hospital admission (T1,<~75% ideal body weight, IBW) and again at discharge (T2,≥ ~ 85% IBW). To examine the relationship between weight restoration and differential gene expression, normalized gene expression levels were analyzed using a paired design. We found 564 genes whose expression was nominally significantly different following weight restoration (p<0.01, 231 increased and 333 decreased). With a more stringent significance threshold (false discovery rate q<0.05), 67 genes met criteria for differential expression. Of the top 20 genes, CYP11A1, C16orf11, LINC00235, and CPA3 were down-regulated more than two-fold after weight restoration while multiple olfactory receptor genes (OR52J3, OR51L1, OR51A4, and OR51A2) were up-regulated more than two-fold after weight restoration. Pathway analysis revealed up-regulation of two broad pathways with largely overlapping genes, one related to protein secretion and signaling and the other associated with defense response to bacterial regulation. Although results are preliminary secondary to a small sample size, these data provide initial evidence of transcriptional alterations during weight restoration in AN.
我们使用 RNAseq 检查了六位神经性厌食症（AN）女性在体重恢复前后的血液中的基因表达。AN 病例（年龄 19-39 岁）在住院时（T1，<75%理想体重，IBW）和出院时（T2，≥85%IBW）完成了临床评估并采集了血液用于 RNA 检测。为了研究体重恢复与差异基因表达之间的关系，使用配对设计分析了标准化基因表达水平。我们发现了 564 个基因，这些基因在体重恢复后表达明显不同（p<0.01，231 个上调，333 个下调）。使用更严格的显著性阈值（错误发现率 q<0.05），有 67 个基因符合差异表达标准。在前 20 个基因中，CYP11A1、C16orf11、LINC00235 和 CPA3 在体重恢复后下调超过两倍，而多个嗅觉受体基因（OR52J3、OR51L1、OR51A4 和 OR51A2）在体重恢复后上调超过两倍。通路分析显示，两个广泛的通路上调，其中一个与蛋白质分泌和信号转导有关，另一个与细菌调节的防御反应有关。尽管由于样本量小，结果初步存在，但这些数据为 AN 患者体重恢复期间转录改变提供了初步证据。
