Phillips Jennifer Lynne, Batten Lisa Ann, Tremblay Philippe, Aldosary Fahad, Du Lisheng, Blier Pierre
1University of Ottawa Institute of Mental Health Research,Ottawa,Canada.
Acta Neuropsychiatr. 2015 Dec;27(6):353-61. doi: 10.1017/neu.2015.25. Epub 2015 May 20.
In major depressive disorder (MDD), single nucleotide polymorphisms (SNPs) in monoaminergic genes may impact disease susceptibility, treatment response, and brain volume. The objective of this study was to examine the effect of such polymorphisms on hippocampal volume in patients with treatment-resistant MDD and healthy controls. Candidate gene risk alleles were hypothesised to be associated with reductions in hippocampal volume.
A total of 26 outpatients with treatment-resistant MDD and 27 matched healthy controls underwent magnetic resonance imaging and genotyping for six SNPs in monoaminergic genes [serotonin transporter (SLC6A4), norepinephrine transporter (SLC6A2), serotonin 1A and 2A receptors (HTR1A and HTR2A), catechol-O-methyltransferase (COMT), and brain-derived neurotrophic factor (BDNF)]. Hippocampal volume was estimated using an automated segmentation algorithm (FreeSurfer).
Hippocampal volume did not differ between patients and controls. Within the entire study sample irrespective of diagnosis, C allele-carriers for both the NET-182 T/C [rs2242446] and 5-HT1A-1019C/G [rs6295] polymorphisms had smaller hippocampal volumes relative to other genotypes. For the 5-HTTLPR (rs25531) polymorphism, there was a significant diagnosis by genotype interaction effect on hippocampal volume. Among patients only, homozygosity for the 5-HTTLPR short (S) allele was associated with smaller hippocampal volume. There was no association between the 5-HT2A, COMT, and BDNF SNPs and hippocampal volume.
The results indicate that the volume of the hippocampus may be influenced by serotonin- and norepinephrine-related gene polymorphisms. The NET and 5-HT1A polymorphisms appear to have similar effects on hippocampal volume in patients and controls while the 5-HTTLPR polymorphism differentially affects hippocampal volume in the presence of depression.
在重度抑郁症(MDD)中,单胺能基因中的单核苷酸多态性(SNP)可能会影响疾病易感性、治疗反应和脑容量。本研究的目的是探讨此类多态性对难治性MDD患者和健康对照者海马体积的影响。候选基因风险等位基因被假设与海马体积减小有关。
共有26例难治性MDD门诊患者和27例匹配的健康对照者接受了磁共振成像检查,并对单胺能基因[血清素转运体(SLC6A4)、去甲肾上腺素转运体(SLC6A2)、血清素1A和2A受体(HTR1A和HTR2A)、儿茶酚-O-甲基转移酶(COMT)和脑源性神经营养因子(BDNF)]中的6个SNP进行基因分型。使用自动分割算法(FreeSurfer)估计海马体积。
患者和对照者的海马体积没有差异。在整个研究样本中,无论诊断如何,NET-182 T/C [rs2242446]和5-HT1A-1019C/G [rs6295]多态性的C等位基因携带者相对于其他基因型的海马体积较小。对于5-HTTLPR(rs25531)多态性,存在基因型对海马体积的显著诊断交互作用。仅在患者中,5-HTTLPR短(S)等位基因的纯合性与较小的海马体积相关。5-HT2A、COMT和BDNF SNP与海马体积之间没有关联。
结果表明,海马体积可能受血清素和去甲肾上腺素相关基因多态性的影响。NET和5-HT1A多态性对患者和对照者的海马体积似乎有相似的影响,而5-HTTLPR多态性在存在抑郁症的情况下对海马体积有不同的影响。