Melis Marcello, Di Giosia Massimilino
Private Practice , Cagliari, Italy .
Cranio. 2016 Jan;34(1):43-51. doi: 10.1179/2151090314Y.0000000027. Epub 2014 Sep 14.
To perform a review of the literature of published articles assessing the role of genetic factors in the etiology of temporomandibular disorders (TMDs).
A PubMed search was carried out by looking for all controlled clinical trials related to the topic and limiting the search to English language and humans. The references from the studies included and those from review articles were also examined for further relevant papers.
A total of 1999 articles were first identified, 24 of which were considered relevant to the topic. Two other papers were found while searching the references. While TMD signs and symptoms' co-occurrence was not found in subjects within the same family, many gene polymorphisms were shown to be associated with a higher or lower risk of TMD. Such genes were mainly related to serotonin activity and metabolism, Tcellreceptor pathway, catecholamine activity and metabolism, estrogen activity, folate metabolism, glutathione activity, ANKH gene, major histocompatibility complex, extracellular matrix metabolism, genes studied in the orofacial pain prospective evaluation risk and assessment (OPPERA) study, and related to cytokines activity and metabolism.
This new understanding of the pathophysiology of TMD can lead to a different treatment approach by identifying the subjects at higher risk for this pathology, and possibly by creating new drugs targeted at interfering with the expression of the genes that enhance such risk.
对已发表文章的文献进行综述，评估遗传因素在颞下颌关节紊乱病（TMDs）病因学中的作用。
通过在PubMed上搜索所有与该主题相关的对照临床试验，并将搜索限制在英文文献和人类研究。还对纳入研究的参考文献以及综述文章的参考文献进行了检查，以查找更多相关论文。
最初共识别出1999篇文章，其中24篇被认为与该主题相关。在搜索参考文献时又发现了另外两篇论文。虽然在同一家族的受试者中未发现TMD体征和症状的共现情况，但许多基因多态性显示与TMD的高风险或低风险相关。这些基因主要与血清素活性和代谢、T细胞受体途径、儿茶酚胺活性和代谢、雌激素活性、叶酸代谢、谷胱甘肽活性、ANKH基因、主要组织相容性复合体、细胞外基质代谢、在口面部疼痛前瞻性评估风险与评估（OPPERA）研究中研究的基因以及与细胞因子活性和代谢有关。
对TMD病理生理学的这种新认识可以通过识别患该疾病风险较高的受试者，并可能通过研发针对干扰增加此类风险的基因表达的新药，从而导致不同的治疗方法。
