Salinas Valeria, Villarroel Juana, Silva Hernán, Herrera Luisa, Jerez Sonia, Zazueta Alejandra, Montes Cristián, Nieto Rodrigo, Bustamante M Leonor
Neurogenetics Clinic and Laboratory, University Neurology Center and Neurology Section, J.M. Ramos Mejía, Hospital, Faculty of Medicine, Universidad de Buenos Aires, Buenos Aires, Argentina.
Precision Medicine and Clinical Genomics Program, Translational Medicine Research Institute, Faculty of Biomedical Sciences, Universidad Austral-CONICET, Buenos Aires, Argentina.
BMC Res Notes. 2020 Feb 7;13(1):61. doi: 10.1186/s13104-020-4924-6.
Genetic factors underlying different personality traits are not entirely understood, particularly how genes interact to modulate their effect. We studied 76 patients diagnosed with borderline personality disorder (BPD), characterized by extreme levels of personality traits, especially neuroticism (N), in which we genotyped two polymorphisms, the 5HTTLPR of the Serotonin transporter (SERT) gene, and the Val66Met of the Brain-derived neurotrophic factor (BDNF) gene.
We found an association with SERT, where S-allele carriers had significantly higher levels of N than L-homozygous. Furthermore, we found that the protective effect of L-homozygosity is only evident on A-allele carriers of the BDNF Val66Met polymorphism. Genetic constitution in SERT and BDNF seems to be important in neuroticism, the most relevant personality trait on BPD.
不同人格特质背后的遗传因素尚未完全明了，尤其是基因如何相互作用以调节其效应。我们研究了76例被诊断为边缘性人格障碍（BPD）的患者，其人格特质水平极高，尤其是神经质（N），我们对两种多态性进行了基因分型，即血清素转运体（SERT）基因的5HTTLPR和脑源性神经营养因子（BDNF）基因的Val66Met。
我们发现SERT存在关联，其中S等位基因携带者的N水平显著高于L纯合子。此外，我们发现L纯合性的保护作用仅在BDNF Val66Met多态性的A等位基因携带者中明显。SERT和BDNF的基因构成在神经质方面似乎很重要，神经质是BPD中最相关的人格特质。
