Cho Kevin, Amin Zubair M, An Jie, Rambaran Kerry Anne, Johnson Tyler B, Alzghari Saeed K
Reference Health Laboratories, Gulfstream Diagnostics.
Thomas J. Long School of Pharmacy & Health Sciences, University of the Pacific.
Cureus. 2017 Oct 1;9(10):e1734. doi: 10.7759/cureus.1734.
Major depressive disorder (MDD) is a disorder that carries significant psychosocial and economic implications. Research efforts have focused on identifying biomarkers that can aid in the prediction, diagnosis, and efficacious treatment of MDD. Most of this focus has been placed on a polymorphism of the methylenetetrahydrofolate reductase () gene, C677T. C677T is screened during MDD diagnosis in many protocols. However, C667T poses conflicting data in various ethnic groups and geographic populations calling into question its utility. Another polymorphism, A1298C, has often taken the back-seat to C677T in respect to research focus. A1298C is implicated in irregular homocysteine metabolism and aberrant folate cycles and, through this, it may play a role as either a driver in the development of MDD or as a predictive or diagnostic marker, possibly in combination with C677T. The number of studies evaluating A1298C and the power of those studies is lacking and thus larger studies are required to confirm the association between this polymorphism and MDD.
重度抑郁症（MDD）是一种具有重大社会心理和经济影响的疾病。研究工作集中在识别可有助于MDD的预测、诊断和有效治疗的生物标志物。大部分研究重点都放在了亚甲基四氢叶酸还原酶（）基因的一种多态性，即C677T上。在许多诊断方案中，MDD诊断期间都会筛查C677T。然而，C667T在不同种族群体和地理人群中呈现出相互矛盾的数据，这让人质疑其效用。另一种多态性A1298C，在研究重点方面相对于C677T常常处于次要地位。A1298C与同型半胱氨酸代谢异常和叶酸循环异常有关，通过这种关联，它可能在MDD的发展中起驱动作用，或者作为一种预测或诊断标志物，可能与C677T联合发挥作用。评估A1298C的研究数量以及这些研究的力度都不足，因此需要更大规模的研究来证实这种多态性与MDD之间的关联。
