RIT2基因多态性：是否存在差异关联？
RIT2 Polymorphisms: Is There a Differential Association?
作者信息
Emamalizadeh Babak, Jamshidi Javad, Movafagh Abolfazl, Ohadi Mina, Khaniani Mahmoud Shekari, Kazeminasab Somayyeh, Biglarian Akbar, Taghavi Shaghayegh, Motallebi Marzieh, Fazeli Atena, Ahmadifard Azadeh, Shahidi Gholam-Ali, Petramfar Peyman, Shahmohammadibeni Neda, Dadkhah Tahereh, Khademi Ehteram, Tafakhori Abbas, Khaligh Ali, Safaralizadeh Tannaz, Kowsari Ali, Mirabzadeh Arash, Zarneh Amir Ehtesham Shafiei, Khorrami Mehdi, Shokraeian Parasto, Banavandi Mohammad Javad Soltani, Lima Behnam Safarpour, Andarva Monavvar, Alehabib Elham, Atakhorrami Minoo, Darvish Hossein
机构信息
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
出版信息
Mol Neurobiol. 2017 Apr;54(3):2234-2240. doi: 10.1007/s12035-016-9815-4. Epub 2016 Mar 3.
Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.
神经疾病包括多种主要与神经元细胞的发育、存活和功能相关的多因素疾病。单核苷酸多态性（SNP）已在神经疾病中得到广泛研究，并且在许多情况下已被反复证明与疾病相关，作为风险因素。最近研究表明，RIT2基因与多种神经疾病有关，如帕金森病（PD）和自闭症。在本文报道的研究中，我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，研究了RIT2基因的rs12456492和rs16976358单核苷酸多态性与帕金森病、特发性震颤（ET）、自闭症、精神分裂症（SCZ）和双相情感障碍（BPD；共2290例患者）以及1000例对照之间的关联。观察到rs12456492与两种疾病（帕金森病和特发性震颤）之间存在显著关联，而rs16976358与自闭症、精神分裂症和双相情感障碍有关。我们的研究结果表明RIT2单核苷酸多态性与不同神经疾病之间存在差异关联。
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