Jayaseelan Vijayashree Priyadharsini, Arumugam Paramasivam
Clinical Genetics Lab, Cellular and Molecular Research Centre, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Poonamallee High Road, Chennai, Tamil Nadu, India.
Molecular Biology Lab, Cellular and Molecular Research Centre, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Poonamallee High Road, Chennai, Tamil Nadu, India.
Glob Med Genet. 2022 Mar 9;9(2):159-165. doi: 10.1055/s-0042-1743571. eCollection 2022 Jun.
Prosthodontic planning in patients with temporomandibular joint disorders (TMDs) is a challenge for the clinicians. A differential biomarker identification could aid in developing methods for early detection and confirmation of TMD from other related conditions. The present study identified candidate genes with possible association with TMDs. The observational study delineates genes from three datasets retrieved from DisGeNET database. The convergence of datasets identifies potential genes related to TMDs with associated complication such as osteoarthritis. Gene ontology analysis was also performed to identify the potential pathways associated with the genes belonging to each of the datasets. The preliminary analysis revealed vascular endothelial growth factor A ( ), interleukin 1 β ( , and estrogen receptor 1 ( ) as the common genes associated with all three phenotypes assessed. The gene ontology analysis revealed functional pathways in which the genes of each dataset were clustered. The chemokine and cytokine signaling pathway, gonadotropin-releasing hormone receptor pathway, cholecystokinin receptors (CCKR) signaling, and tumor growth factor (TGF)-β signaling pathway were the pathways most commonly associated with the phenotypes. The genes , and were found to be the common genes across temporomandibular joint (TMJ) and TMJ + osteoarthritis (TMJ-OA) datasets. Analysis through computational approach has revealed as the crucial candidate gene which could have a strong association with bone disorders. Nevertheless, several immunological pathways have also identified numerous genes showing putative association with TMJ and other related diseases. These genes have to be further validated using experimental approaches to acquire clarity on the mechanisms related to the pathogenesis.
颞下颌关节紊乱病（TMD）患者的口腔修复治疗计划对临床医生来说是一项挑战。鉴别生物标志物有助于开发从其他相关病症中早期检测和确诊TMD的方法。本研究确定了可能与TMD相关的候选基因。该观察性研究从DisGeNET数据库检索的三个数据集中描绘出基因。数据集的汇聚确定了与TMD及相关并发症（如骨关节炎）相关的潜在基因。还进行了基因本体分析，以确定与每个数据集所属基因相关的潜在途径。初步分析显示，血管内皮生长因子A（VEGF-A）、白细胞介素1β（IL-1β）和雌激素受体1（ESR1）是与所评估的所有三种表型相关的共同基因。基因本体分析揭示了每个数据集的基因聚集的功能途径。趋化因子和细胞因子信号通路、促性腺激素释放激素受体通路、胆囊收缩素受体（CCKR）信号传导和肿瘤生长因子（TGF）-β信号通路是与这些表型最常相关的途径。发现COL1A1、COL1A2和COL3A1是颞下颌关节（TMJ）和TMJ + 骨关节炎（TMJ-OA）数据集的共同基因。通过计算方法分析发现，COL1A1是可能与骨骼疾病有强关联的关键候选基因。然而，一些免疫途径也确定了许多与TMJ和其他相关疾病有假定关联的基因。这些基因必须使用实验方法进一步验证，以明确与发病机制相关的机制。
