Golimbet V E, Alfimova M V, Shchebatykh T V, Abramova L I, Kaleda V G, Rogaev E I
Research Center of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe sh 2/2, 113152 Moscow, Russia.
Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):1-7. doi: 10.1002/ajmg.b.20135.
A role for the serotonin transporter (5-HTT) gene polymorphism in mental illnesses and anxiety-traits has been implicated. The contribution of genetic factors in personality traits and the manifestation of specific symptoms in psychiatric illnesses have yet to be elucidated. Anxious-depressive symptoms are a significant component in a pattern of schizophrenic symptoms. This study focused on the relation between 5-HTT polymorphism and clinical presentations of schizophrenia, specifically those related to the affective spectrum. Using clinical and psychological analyses, we tested the genetic association between the 5-HTTLPR polymorphism (5-HTT gene-linked polymorphic region) and anxiety- and depressive-related symptoms emerged in schizophrenia. In 260 patients with an ICD-10 diagnosis of schizophrenia (broad definition), we studied the 5-HTTLPR genotype (insertion-deletion polymorphism), the Positive and Negative Syndrome Scale (PANSS), and self-rated inventories (EPI, MMPI, STAI) scores. Patients with the "ss" genotype (deletion variant) scored significantly higher on "Guilt feelings" and "Depression" items, as compared with those of the "ll" genotype (insertion variant) (P = 0.016, 0.039, respectively). The frequency of the "ss" genotype was reduced in patients with no depression or guilt feelings, or in those patients exhibiting questionable symptoms. In contrast, the "ss" genotype carriers prevailed among the patients with mild, moderate, or severe ratings of the symptoms. The scores on all anxiety- and depression-related traits, self-rated by the patients, did not significantly differ by genotype. Our finding may contribute to understanding of molecular genetic features underlying an appearance of psychopathological symptoms emerged in schizophrenia.
血清素转运体(5-HTT)基因多态性与精神疾病及焦虑特质之间的关联已被提及。遗传因素在人格特质以及精神疾病特定症状表现中的作用尚待阐明。焦虑抑郁症状是精神分裂症症状模式的重要组成部分。本研究聚焦于5-HTT多态性与精神分裂症临床表现之间的关系,特别是与情感谱系相关的表现。通过临床和心理分析,我们测试了5-HTTLPR多态性(5-HTT基因连锁多态区域)与精神分裂症中出现的焦虑和抑郁相关症状之间的遗传关联。在260例符合ICD-10精神分裂症诊断(广义定义)的患者中,我们研究了5-HTTLPR基因型(插入缺失多态性)、阳性和阴性症状量表(PANSS)以及自评量表(EPI、MMPI、STAI)得分。与“ll”基因型(插入变异)患者相比,“ss ”基因型(缺失变异)患者在“内疚感”和“抑郁”项目上的得分显著更高(分别为P = 0.016和0.039)。在没有抑郁或内疚感的患者或表现出可疑症状的患者中,“ss ”基因型的频率降低。相反,在症状评分为轻度、中度或重度的患者中,“ss ”基因型携带者占多数。患者自评的所有焦虑和抑郁相关特质得分在基因型上无显著差异。我们的发现可能有助于理解精神分裂症中出现的精神病理症状背后的分子遗传特征。