Department of Orthodontics, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Division of Growth and Development, Section of Orthodontics, School of Dentistry, University of California, Los Angeles, CA 90095, USA.
Int J Mol Sci. 2021 Jul 23;22(15):7876. doi: 10.3390/ijms22157876.
Osteoarthritis (OA) is a major public health challenge that imposes a remarkable burden on the affected individuals and the healthcare system. Based on the clinical observation, males and females have different prevalence rates and severity levels of OA. Thus, sex-based differences may play essential roles in OA's prognosis and treatment outcomes. To date, the comprehensive understanding of the relationship between sex and OA is still largely lacking. In the current study, we analyzed a published transcriptome dataset of knee articular cartilage (GSE114007) from 18 healthy (five females, 13 males) and 20 OA (11 females, nine males) donors to provide a slight insight into this important but complex issue. First, comparing female healthy cartilage samples with those of males revealed 36 differential expression genes (DEGs), indicating the fundamental sex-related differences at the molecular level. Meanwhile, 923 DEGs were distinguished between OA and healthy female cartilage, which can be enriched to 15 Reactome pathways. On the other hand, when comparing OA and healthy male cartilage, there are only 419 DEGs were identified, and only six pathways were enriched against the Reactome database. The different signaling response to OA in the male and female cartilage was further enforced by recognizing 50 genes with significantly different OA-responsive expression fold changes in males and females. Particularly, 14 Reactome pathways, such as "Extracellular matrix organization", "Collagen biosynthesis and modifying enzymes", "Dissolution of fibrin clot", and "Platelet Aggregation (Plug formation)", can be noted from these 50 sex-dependent OA-responsive genes. Overall, the current study explores the Sex as a Biological Variable (SABV) at the transcriptomic level in the knee articular cartilage in both healthy status and OA event, which could help predict the differential OA prognosis and treatment outcome of males and female patients.
骨关节炎(OA)是一个重大的公共卫生挑战,给患者和医疗保健系统带来了巨大的负担。基于临床观察,男性和女性的 OA 患病率和严重程度不同。因此,性别差异可能在 OA 的预后和治疗结果中发挥重要作用。迄今为止,人们对性别与 OA 之间的关系的全面理解仍在很大程度上缺失。在本研究中,我们分析了一个已发表的膝关节关节软骨转录组数据集(GSE114007),该数据集来自 18 名健康(5 名女性,13 名男性)和 20 名 OA(11 名女性,9 名男性)供体,以深入了解这一重要但复杂的问题。首先,将女性健康软骨样本与男性样本进行比较,发现了 36 个差异表达基因(DEGs),这表明在分子水平上存在基本的性别相关差异。同时,在 OA 和健康女性软骨之间区分出了 923 个 DEGs,可以富集到 15 个 Reactome 通路。另一方面,当比较 OA 和健康男性软骨时,只鉴定出 419 个 DEGs,只有 6 个通路对 Reactome 数据库进行了富集。通过识别男性和女性中 OA 反应表达倍数变化有显著差异的 50 个基因,进一步加强了男性和女性软骨对 OA 的不同信号反应。特别地,从这 50 个性别依赖的 OA 反应基因中可以注意到 14 个 Reactome 通路,如“细胞外基质组织”、“胶原蛋白生物合成和修饰酶”、“纤维蛋白凝块溶解”和“血小板聚集(栓形成)”。总体而言,本研究在健康状态和 OA 事件中探索了膝关节关节软骨转录组水平的性别作为生物学变量(SABV),这有助于预测男性和女性患者的 OA 预后和治疗结果的差异。