Evinova Andrea, Babusikova Eva, Straka Stanislav, Ondrejka Igor, Lehotsky Jan
Department of Medical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, Slovak Republic.
Gen Physiol Biophys. 2012 Dec;31(4):415-22. doi: 10.4149/gpb_2012_049.
Major depressive disorder (MDD) is a complex neuropsychiatric disorder where both gene-gene and gene-environment interactions play an important role, but the clues are still not fully understood. One carbon metabolism in the CNS plays a critical role in the synthesis and release of neurotransmitters which are relevant to depressive disorder. We studied genetic polymorphisms of the brain derived neurotrophic factor (BDNF) and the methylenetetrahydrofolate reductase (MTHFR) in association with major depressive disorder. We genotyped the BDNF G196A, the MTHFR C677T, and A1298C polymorphisms in 134 patients diagnosed with major depression and 143 control subjects in Slovak (Caucasian) cohort of patients and probands. We found no significant association of either the BDNF G196A or MTHFR C677T polymorphisms with major depressive disorder neither in female nor male group of patients. However, the MTHFR A1298C genotype distribution was 36.6% (for AA genotype), 48.5% (AC) and 14.9% (CC) for the depressed patients, and 48.9% (AA), 42.7% (AC) and 8.4% (CC), respectively, for the control subjects. Patients with MDD had a higher prevalence of the CC genotype (OR = 2.38; 95% CI = 1.07-5.32; p = 0.032) and the AC + CC genotype (OR = 1.67; 95% CI = 1.03-2.69; p = 0.037) in comparison with the control subjects. This study shows that CC genotype of the MTHFR A1298C is associated with higher risk of MDD in Slovak population.
重度抑郁症（MDD）是一种复杂的神经精神疾病，基因-基因和基因-环境相互作用在其中都起着重要作用，但相关线索仍未完全明确。中枢神经系统中的一碳代谢在与抑郁症相关的神经递质合成和释放中起关键作用。我们研究了脑源性神经营养因子（BDNF）和亚甲基四氢叶酸还原酶（MTHFR）的基因多态性与重度抑郁症的关系。我们对斯洛伐克（高加索）患者和先证者队列中的134例被诊断为重度抑郁症的患者以及143名对照受试者进行了BDNF G196A、MTHFR C677T和A1298C基因多态性的基因分型。我们发现，无论是BDNF G196A还是MTHFR C677T基因多态性，在女性或男性患者组中与重度抑郁症均无显著关联。然而，抑郁症患者的MTHFR A1298C基因型分布为：AA基因型占36.6%，AC基因型占48.5%，CC基因型占14.9%；而对照受试者的相应基因型分布分别为48.9%（AA）、42.7%（AC）和8.4%（CC）。与对照受试者相比，MDD患者中CC基因型（OR = 2.38；95% CI = 1.07 - 5.32；p = 0.032）和AC + CC基因型（OR = 1.67；95% CI = 1.03 - 2.69；p = 0.037）的患病率更高。这项研究表明，在斯洛伐克人群中，MTHFR A1298C的CC基因型与MDD的较高风险相关。
