Agahi Mohadeseh, Noormohammadi Zahra, Salahshourifar Iman, Mahdavi Hezaveh Niloufar
Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Department of Psychiatry, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Iran J Psychiatry. 2019 Oct;14(4):265-273.
Schizophrenia is a complicated mental disorder that affects about 1% of the world's population. It is a complex disease and is approximately 80% inherited. One of the candidate genes in schizophrenia is transcription factor 4 (TCF4), which is positioned on chromosome 18 and is a transcription factor that plays a role in the transcription of Neurexin 1(NRXN1) gene, which is one of the candidate genes for developing schizophrenia. This case-control study aimed to investigate the correlation of TCF4 rs13381800 and NRXN1 rs17039988 polymorphisms with the risk of schizophrenia in a sample of Iranian patients with schizophrenia. A total of 200 individuals were included in this study: 100 patients with schizophrenia (65 males and 35 females), with the mean age of 40.80 ± 11.298 years, and 100 as a control group (63 males and 37 females), with the mean age 32.92 ± 7.391 years. Allele specific polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were done, respectively, for genotyping of rs13381800 (T/C) and rs17039988 (A/C) polymorphisms. The results showed that the frequency of C / C genotype in rs13381800 in patients' group was 9%, while it was 13% in the control group. Also, the frequency of C / C genotype in rs17039988 was 9% in patients and 7% in control groups. Statistical analysis of polymorphisms showed no correlation between patients and controls in rs13381800 (OR = 1.51; CI = 95%; P = 0.366) and rs17039988 (OR = 0.76; CI = 95%; P = 0.602). No significant difference was found between rs13381800 and rs17039988 genotypes between patients and control groups in terms of gender, age and education in the patients group. Our study suggests that there was no correlation between desired polymorphisms with schizophrenia in the studied population.
精神分裂症是一种复杂的精神障碍，影响着全球约1%的人口。它是一种复杂的疾病，约80%由遗传因素导致。精神分裂症的候选基因之一是转录因子4（TCF4），该基因位于18号染色体上，是一种转录因子，在神经连接蛋白1（NRXN1）基因的转录过程中发挥作用，而NRXN1基因是精神分裂症发病的候选基因之一。这项病例对照研究旨在调查伊朗精神分裂症患者样本中TCF4 rs13381800和NRXN1 rs17039988基因多态性与精神分裂症风险之间的相关性。本研究共纳入200名个体：100例精神分裂症患者（65名男性和35名女性），平均年龄为40.80±11.298岁；100名作为对照组（63名男性和37名女性），平均年龄为32.92±7.391岁。分别采用等位基因特异性聚合酶链反应和限制性片段长度多态性分析（PCR-RFLP）对rs13381800（T/C）和rs17039988（A/C）基因多态性进行基因分型。结果显示，患者组中rs13381800的C/C基因型频率为9%，而对照组为13%。此外，rs17039988的C/C基因型频率在患者组中为9%，在对照组中为7%。对基因多态性的统计分析表明，在rs13381800（比值比=1.51；95%置信区间；P=0.366）和rs17039988（比值比=0.76；95%置信区间；P=0.602）方面，患者组和对照组之间无相关性。在患者组中，rs13381800和rs17039988基因型在性别、年龄和受教育程度方面，患者组与对照组之间未发现显著差异。我们的研究表明，在所研究的人群中，所期望的基因多态性与精神分裂症之间没有相关性。
