Firouzabadi Negar, Nouraei Hasti, Mandegary Ali
Department of Pharmacology & Toxicology, School of Pharmacy, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Toxicology & Pharmacology, School of Pharmacy, Kerman University of Medical Sciences, Kerman, Iran.
Galen Med J. 2018 Dec 31;7:e1181. doi: 10.22086/gmj.v0i0.1181. eCollection 2018.
Extensive distribution of glucocorticoid receptors (GCRs) in different brain areas along with disruption of hypothalamic-pituitary-adrenal (HPA) axis in major depressive disorder (MDD) and the cross talk between GCRs and HPA proposes genetic variants of GC receptor genes as potential contributors in MDD. Among the GCR polymorphisms, rs41423247, rs6195 and rs6189/rs6190 are suggested to be involved in MDD.
We investigated the association between rs41423247, rs6195 and rs6189/rs6190 and MDD in a case-control study. One hundred MDD patients along with 100 healthy individuals were enrolled in this study. genetic variants of rs41423247, rs6195 and rs6189/rs6190 were determined in extracted DNAs using PCR-RFLP.
The prevalence of heterozygote and mutant carriers of rs41423247 were significantly and by 1.9 fold greater in cases versus controls (P=0.033; OR; 95%CI=1.9; 1.1-3.3). Moreover, carriers of the mutant (G) allele were by 1.8 fold more prevalent in MDD group (P=0.013; OR;95%CI=1.8; 1.1-2.8).
Specific carriers of rs41423247 might be more susceptible to developing MDD. This supports the hypothesis of the involvement of GCRs in pathophysiology of MDD.
糖皮质激素受体（GCRs）在不同脑区广泛分布，同时在重度抑郁症（MDD）中下丘脑 - 垂体 - 肾上腺（HPA）轴功能紊乱，且GCRs与HPA之间存在相互作用，这表明糖皮质激素受体基因的遗传变异可能是MDD的潜在影响因素。在GCR多态性中，rs41423247、rs6195以及rs6189/rs6190被认为与MDD有关。
我们在一项病例对照研究中调查了rs41423247、rs6195以及rs6189/rs6190与MDD之间的关联。本研究纳入了100例MDD患者和100名健康个体。使用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）技术在提取的DNA中检测rs41423247、rs6195以及rs6189/rs6190的基因变异。
rs41423247杂合子和突变携带者的患病率在病例组中显著高于对照组，是对照组的1.9倍（P = 0.033；比值比（OR）；95%置信区间（CI）= 1.9；1.1 - 3.3）。此外，突变（G）等位基因携带者在MDD组中的患病率高1.8倍（P = 0.013；OR；95%CI = 1.8；1.1 - 2.8）。
rs41423247的特定携带者可能更容易患MDD。这支持了GCRs参与MDD病理生理学的假说。
