TMEM165基因rs534654多态性与1型双相情感障碍风险增加的关系

IF 1.5 Q3 MEDICINE, RESEARCH & EXPERIMENTAL International Journal of Molecular and Cellular Medicine Pub Date : 2021-01-01 Epub Date: 2021-09-01 DOI:10.22088/IJMCM.BUMS.10.2.155
Asmaolhosna Amini, Sara Sadat Aghabozorg Afjeh, Behzad Boshehri, Safar Hamednia, Parisa Mashayekhi, Mir Davood Omrani
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引用次数: 0

摘要

双相情感障碍(BD)是世界范围内主要的卫生保健问题。有一些报告显示,与昼夜节律有关的基因及其变异之间存在关联;生物钟和生物钟相关基因在BD患者中的功能和发展。因此,本研究旨在探讨TMEM165(跨膜蛋白165)基因上的rs534654变异与BD风险的可能关联。采用四引物扩增难变系统- pcr (4P-ARMS-PCR)方法对203例1型BD患者及其健康和正常对照者进行rs534654基因分型。患者中rs534654多态性G和A等位基因的频率分别为53%和47%。与对照组相比,AA纯合子患者的基因型频率为5.4% vs 2.5%;GG纯合子为11.3% vs 80.8%;杂合子AG为83.3% vs 16.7%。统计分析显示,对照组和患者组之间的频率差异有统计学意义(P = 0.001)。基于这一发现,我们可以得出结论,TMEM165基因rs534654单核苷酸多态性的损伤与双相障碍的发生风险有关。
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The Relationship between rs534654 Polymorphism in TMEM165 Gene and Increased Risk of Bipolar Disorder Type 1.

Bipolar disorder (BD) is a major health care concern worldwide. There are some reports showing an association between genes and their variants involved in circadian rhythm; clock and clock related genes function and development of BD in patients. Therefore, the aim of this study was to investigate the possible association of rs534654 variant on TMEM165 (transmembrane protein 165) gene with the risk of BD. Genotyping of the rs534654 was carried out using the tetra primers- amplification refractory mutation system-PCR (4P-ARMS-PCR) method in 203 patients with BD type 1 and their healthy and normal counterpart. The frequency of the G and A alleles of rs534654 polymorphism was 53% and 47%, respectively in patients. Genotype frequency in patients in comparison with control subjects was 5.4% vs 2.5% for the AA homozygous; 11.3% vs 80.8% for the GG homozygous; and 83.3% vs 16.7% for the heterozygous AG. Statistical analysis showed a significant difference in frequencies between the control and patient groups (P = 0.001). Based on this finding, it is possible to conclude that the impairment in the rs534654 single nucleotide polymorphism in TMEM165 gene is associated with the risk of BD development.

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期刊介绍: The International Journal of Molecular and Cellular Medicine (IJMCM) is a peer-reviewed, quarterly publication of Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran. The journal covers all cellular & molecular biology and medicine disciplines such as the genetic basis of disease, biomarker discovery in diagnosis and treatment, genomics and proteomics, bioinformatics, computer applications in human biology, stem cells and tissue engineering, medical biotechnology, nanomedicine, cellular processes related to growth, death and survival, clinical biochemistry, molecular & cellular immunology, molecular and cellular aspects of infectious disease and cancer research. IJMCM is a free access journal. All open access articles published in IJMCM are distributed under the terms of the Creative Commons Attribution CC BY. The journal doesn''t have any submission and article processing charges (APCs).
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