Piva Francesco, Giulietti Matteo, Nardi Bernardo, Bellantuono Cesario, Principato Giovanni
Department of Biochemistry, Biology and Genetics, Polytechnic University of Marche, Ancona, Italy.
Hum Psychopharmacol. 2010 Mar;25(2):153-61. doi: 10.1002/hup.1100.
Among the experimentally assessed DNA variations in serotonin related genes, some influence physiological expression of personality and mental disorders, others alter the responses to pharmacological and/or psychotherapeutic treatments. Because of the huge number of polymorphisms lying in genes and of the great length of time necessary to perform association studies, a selection of the variations being studied is a necessary and crucial step.
In this work we used the most updated and assessed bioinformatic tools to predict the phenotype affecting polymorphisms of the human HTR1A, HTR2A and SLC6A4 serotonin related genes. Moreover, we carried out a literature search to collect information about the recent association studies to compare it versus our prediction data.
Gene polymorphism analysis indicated the variations that are worth considering in the association studies in the field of psychiatry, psychology and pharmacogenomics. The literature revision allowed to show both the few well and the most not enough investigated polymorphisms.
Our data can be useful to select polymorphisms for new association studies, especially those not yet investigated that can be related to behaviour, mental disorders and individual treatment response.
在对血清素相关基因进行实验评估的DNA变异中,一些会影响人格和精神障碍的生理表达,另一些则会改变对药物和/或心理治疗的反应。由于基因中存在大量多态性,且进行关联研究需要很长时间,因此选择所研究的变异是必要且关键的一步。
在这项工作中,我们使用了最新且经过评估的生物信息学工具来预测影响人类5-羟色胺受体1A(HTR1A)、5-羟色胺受体2A(HTR2A)和溶质载体家族6成员4(SLC6A4)血清素相关基因多态性的表型。此外,我们进行了文献检索,以收集有关近期关联研究的信息,以便与我们的预测数据进行比较。
基因多态性分析表明了在精神病学、心理学和药物基因组学领域的关联研究中值得考虑的变异。文献综述显示了少数研究充分和大多数研究不足的多态性。
我们的数据可用于为新的关联研究选择多态性,特别是那些尚未研究但可能与行为、精神障碍和个体治疗反应相关的多态性。