Department of Psychiatry and Psychotherapy, University Medical Center Mainz, Germany.
World J Biol Psychiatry. 2010 Feb;11(1):45-58. doi: 10.3109/15622970903406226.
For patients with borderline personality disorder (BPD), we previously reported an independent effect of the catechol-o-methyl-transferase (COMT) low-activity (Met(158)) allele and an interaction with the low-expression allele of the deletion/insertion (short/long or S/L, resp.) polymorphism in the serotonin transporter-linked promoter region (5-HTTLPR). The purpose of the present study was to extend these findings to the tyrosine hydroxylase (TH) Val(81)Met single nucleotide polymorphism (SNP), the 5-HTTLPR S/L polymorphism incorporating the recently described functional A/G SNP within the long allele of the 5-HTTLPR (rs25531) as well as the variable number of tandem repeat (VNTR) polymorphism within intron 2 of the serotonin transporter gene (STin2).
In 156 Caucasian BPD patients and 152 healthy controls, we tested for association between BPD and the TH Val(81)Met SNP, the 5-HTTLPR/rs25531 polymorphism, the STin2, the interaction of the TH Val(81)Met SNP with the tri-allelic 5-HTTLPR/rs25531, the interaction of the TH Val(81)Met SNP with STin2.
Between BPD patients and controls, we observed a slight over-representation of the TH Met(81)Met genotype in BPD patients compared to controls, but no statistically significant differences in genotype distribution of the individual markers after adjusting for multiple testing. Logistic regression analysis showed a lack of interaction between the TH Val(81)Met and the 5-HTTLPR/rs25531 as well as between the TH Val(81)Met and the STin2 polymorphism.
These data do not suggest independent or interactive effects of the TH Val(81)Met, the 5-HTTLPR/rs25531, or the STin2 polymorphisms in BPD.
对于边缘型人格障碍（BPD）患者，我们之前报道了儿茶酚-O-甲基转移酶（COMT）低活性（Met(158)）等位基因的独立作用，以及其与 5-羟色胺转运体启动子区域（5-HTTLPR）缺失/插入（短/长，S/L）多态性的低表达等位基因的相互作用。本研究的目的是将这些发现扩展到酪氨酸羟化酶（TH）Val(81)Met 单核苷酸多态性（SNP），5-HTTLPR S/L 多态性，以及 5-HTTLPR 长等位基因内最近描述的功能 A/G SNP（rs25531）以及 5-羟色胺转运体基因（STin2）内含子 2 内的可变数串联重复（VNTR）多态性。
在 156 例白种人 BPD 患者和 152 例健康对照中，我们检测了 BPD 与 TH Val(81)Met SNP、5-HTTLPR/rs25531 多态性、STin2、TH Val(81)Met SNP 与三等位 5-HTTLPR/rs25531 的相互作用、TH Val(81)Met SNP 与 STin2 的相互作用之间的关联。
与对照组相比，BPD 患者中 TH Met(81)Met 基因型稍多，但在调整多重检验后，各标记物的基因型分布无统计学差异。逻辑回归分析显示，TH Val(81)Met 与 5-HTTLPR/rs25531 以及 TH Val(81)Met 与 STin2 多态性之间无相互作用。
这些数据表明，TH Val(81)Met、5-HTTLPR/rs25531 或 STin2 多态性在 BPD 中没有独立或交互作用。
