乙酰胆碱酯酶及乙酰胆碱酯酶3′UTR SNP rs17228602与精神疾病的关系

Baseerat Rumman, R. Habib, S. Awan, Mbah Ntepe Leonel Javeres, K. Khan, Khulah Sadia, Tekes Kornelia, S. Nurulain
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引用次数: 1

摘要

精神疾病是一种复杂的精神状况,它会导致严重的情绪困扰,损害一个人的正常运作能力。在全球范围内,精神疾病的患病率正以惊人的速度上升。遗传和环境因素参与了这些疾病的病理生理,但分子基础仍然难以捉摸。胆碱能失调是精神疾病的病因之一。本研究旨在评估血液中胆碱能神经递质水解酶乙酰胆碱酯酶(AChE)的状态,并探讨AChE 3'UTR区单核苷酸多态性(rs17228602)与精神障碍易感性的可能关联。方法:经同意,95名精神病患者和130名健康个体被纳入研究。采用Elman法测定乙酰胆碱酯酶。采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)和桑格测序对DNA样本进行SNP研究。结果:精神科患者乙酰胆碱酯酶水平明显降低,差异有统计学意义(p≤0.05)。检测的SNP基因型和等位基因与患者精神疾病的风险相关。
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Acetylcholinesterase and Association 1 of ACHE 3’ UTR SNP rs17228602 with Psychiatric Disorders
Psychiatric disorders are complex mental conditions that cause significant emotional distress and impairment in a person’s ability to function normally. Globally, there is an alarming rise in the prevalence of psychiatric conditions. Genetic and environmental factors are involved in the pathophysiology of these disorders, but molecular underpinning is still elusive. Cholinergic dysregulation is one of the aetiology of psychiatric condition. This study was aimed to assess the status of hydrolyzing enzyme of cholinergic neurotransmitter, acetylcholinesterase (AChE) from blood and investigate the possible association of a single nucleotide polymorphisms in 3'UTR region of ACHE (rs17228602) with predisposition to psychiatric disorder. Methods: Ninety-five confirmed psychiatric and one hundred thirty healthy individuals were recruited for the study with due consents. AChE was determined by Elman’s method. SNP was studied by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) and sanger sequencing on DNA samples. Results: The results showed notably reduced AChE in psychiatric cohorts with statistical significance (p≤0.05). Genotype and allelic association of the examined SNP was observed with the risk of psychiatric condition in patients.
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来源期刊
Kuwait Journal of Science & Engineering
Kuwait Journal of Science & Engineering MULTIDISCIPLINARY SCIENCES-
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3 months
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