GSTP1基因多态性与精神分裂症易感性的关系

R. S. Santos, Laura Raniere Borges dos Anjos, L. Silveira, K. Borges, A. Reis
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摘要

精神分裂症是一种复杂的精神疾病,其特征是存在幻觉、妄想、紧张性行为、认知障碍等症状。虽然这些研究超过了100年,但它是人们知之甚少的精神疾病之一。氧化应激被认为是精神分裂症发展的潜在刺激因素之一。为了研究这些关系,研究重点是抗氧化酶的多态性,如谷胱甘肽s -转移酶(GST),一种重要的II期解毒酶。在此背景下,本研究的目的是通过病例对照研究将GSTP1基因多态性与精神分裂症发展的易感性联系起来。对遗传易感性的了解有助于对精神分裂症的理解,使人们能够在以后确定对这种疾病的易感性标志,一旦确定了这些标志,就可以采取预防措施并更好地确定治疗目标。方法:采用PCR-RFLP技术进行多态性分析,将脑研究所门诊采集的样本分为病例组和对照组,进行杂合型(Ile / Val)、野生纯合子(Ile / Ile)和突变纯合子(Val / Val)的后续研究。结果:GSTP1多态性与精神分裂症发病风险无统计学意义。结论:从这个意义上说,应该进行更多的研究以寻求更一致的结果,从而使这种多态性与精神分裂症易感性的作用更准确地相关。
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Association of the Polymorphism of GSTP1 with the Susceptibility to the Development of Schizophrenia
Schizophrenia is a complex mental illness characterized by the presence of symptoms such as hallucinations, delusions, catatonic behavior, cognitive impairment among others. Although the studies exceed 100 years, it is one of the mental illnesses less understood. Oxidative stress has been investigated as one of the potential stimulant factors in the development of schizophrenia. For the study of these relationships, the research focuses on polymorphisms of antioxidant enzymes, such as glutathione S-transferase (GST), an important phase II detoxification enzyme. In this context, the aim of the study is to associate the GSTP1 gene polymorphism with the susceptibility to the development of schizophrenia through a case-control study. The knowledge of the genetic predisposition comes as a support for the understanding of schizophrenia, allowing later the establishment of markers of susceptibility to the disease, which when identified will allow the taking of preventive measures and better targeting of the treatment. Methods: For the analysis of the polymorphisms using the PCR-RFLP technique, the samples collected at the Brain Institute Clinic were divided into two groups, case and control, for later study of the heterozygous genotypes (Ile / Val), wild homozygote (Ile / Ile) and mutant homozygote (Val / Val). Results: There was no statistically significant correlation between GSTP1 polymorphism and the risk of developing schizophrenia. Conclusions: In this sense, more studies should be carried out in search of more consistent results, thus allowing a more accurate correlation regarding the role of this polymorphism with the susceptibility to schizophrenia.
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