Real Eva, Gratacòs Mònica, Soria Virginia, Escaramís Geòrgia, Alonso Pino, Segalàs Cinto, Bayés Mònica, de Cid Rafael, Menchón José M, Estivill Xavier
OCD Clinical and Research Unit, Instituto de Salud Carlos III, Department of Psychiatry, Bellvitge University Hospital, Barcelona, Spain.
Biol Psychiatry. 2009 Oct 1;66(7):674-80. doi: 10.1016/j.biopsych.2009.05.017. Epub 2009 Jul 9.
Several clinical and genetic studies have focused on the role of brain-derived neurotrophic factor (BDNF) in the pathophysiology of various mental disorders. Recent lines of evidence regarding the network hypothesis of treatment outcome point towards the involvement of BDNF variants in the pharmacologic response in mood disorders (MD). Furthermore, there is strong evidence of a role for the serotonergic system in the pathophysiology and treatment of OCD, and upregulation of BDNF has been observed with various classes of antidepressants, including selective serotonin reuptake inhibitors (SSRI). Thus, we hypothesized that the BDNF gene might also be associated with treatment outcome in OCD.
We performed a single-marker and haplotype association study of eight tag single nucleotide polymorphisms in the BDNF genomic region and related this to pharmacologic response in a sample of 131 OCD patients.
We found an association for a haplotype containing two single nucleotide polymorphisms that have previously been reported to be associated with treatment outcome in MD (rs908867 and rs1491850).
Our results support the hypothesis that the BDNF gene is involved in the response to psychopharmacologic treatment even though these preliminary findings await replication in a follow-up sample.
多项临床和遗传学研究聚焦于脑源性神经营养因子（BDNF）在各种精神障碍病理生理学中的作用。近期有关治疗结果网络假说的一系列证据表明，BDNF变异体参与了心境障碍（MD）的药物反应。此外，有强有力的证据表明血清素能系统在强迫症的病理生理学和治疗中发挥作用，并且在包括选择性5-羟色胺再摄取抑制剂（SSRI）在内的各类抗抑郁药治疗过程中均观察到BDNF上调。因此，我们推测BDNF基因可能也与强迫症的治疗结果相关。
我们对BDNF基因组区域的8个标签单核苷酸多态性进行了单标记和单倍型关联研究，并将其与131例强迫症患者样本的药物反应相关联。
我们发现一个包含两个单核苷酸多态性的单倍型存在关联，这两个单核苷酸多态性先前已被报道与心境障碍的治疗结果相关（rs908867和rs1491850）。
我们的结果支持BDNF基因参与精神药物治疗反应这一假说，尽管这些初步发现有待在后续样本中进行重复验证。
