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CAMKK2基因中的一种基因变异可能与双相情感障碍风险增加有关。

A genetic variant in CAMKK2 gene is possibly associated with increased risk of bipolar disorder.

作者信息

Atakhorrami Minoo, Rahimi-Aliabadi Simin, Jamshidi Javad, Moslemi Elham, Movafagh Abolfazl, Ohadi Mina, Mirabzadeh Arash, Emamalizadeh Babak, Ghaedi Hamid, Gholipour Fatemeh, Fazeli Atena, Motallebi Marzieh, Taghavi Shaghayegh, Ahmadifard Azadeh, Mohammadihosseinabad Saeed, Shafiei Zarneh Amir Ehtesham, Shahmohammadibeni Neda, Madadi Faranak, Andarva Monavvar, Darvish Hossein

机构信息

Department of Biology, Faculty of Basic Sciences, Islamic Azad University, East Tehran Branch (Ghiamdasht), Tehran, Iran.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

J Neural Transm (Vienna). 2016 Mar;123(3):323-8. doi: 10.1007/s00702-015-1456-7. Epub 2015 Sep 9.

Abstract

A recent large-scale study have reported that rs1063843, a single nucleotide polymorphism located in the CAMKK2 gene is highly associated with schizophrenia in European and Han Chinese populations. Increasing evidences show that schizophrenia and bipolar disorder have some common genetic variance. Here, we evaluated the association of this variant with schizophrenia and bipolar disorder in Iranian population. Genomic DNA was extracted from peripheral blood of 500 schizophrenic patients, 500 bipolar patients and 500 normal controls and all were genotyped for the rs1063843 using a PCR-RFLP method. The allele frequency of rs1063843 was significantly different in both schizophrenia and bipolar patients comparing to control group. For the first time, we showed that rs1063843 is highly associated with bipolar disorder, although more replication studies are needed to confirm our findings. Our results also support the findings of previous studies suggesting a significant association between rs1063843 and schizophrenia.

摘要

最近一项大规模研究报告称,位于钙调蛋白依赖性蛋白激酶激酶2(CAMKK2)基因的单核苷酸多态性rs1063843在欧洲和汉族人群中与精神分裂症高度相关。越来越多的证据表明,精神分裂症和双相情感障碍存在一些共同的遗传变异。在此,我们评估了该变异在伊朗人群中与精神分裂症和双相情感障碍的关联。从500例精神分裂症患者、500例双相情感障碍患者和500例正常对照的外周血中提取基因组DNA,并使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对所有样本进行rs1063843基因分型。与对照组相比,rs1063843的等位基因频率在精神分裂症患者和双相情感障碍患者中均有显著差异。我们首次表明,rs1063843与双相情感障碍高度相关,不过还需要更多重复研究来证实我们的发现。我们的结果也支持先前研究的发现,即rs1063843与精神分裂症之间存在显著关联。

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