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Mol Psychiatr:发现与创伤后应激障碍相关的新基因

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近日,美国波士顿大学医学院(BUSM)和研究人员发现一种新的基因与创伤后应激障碍(PTSD)密切相关。研究结果发表在<em>Molecular Psychiatry</em>杂志上,该研究表明这个新发现的基因能保护脑细胞受到应激等破坏性影响,同时该基因也可能参与PTSD的发生。 <p align="center"><img src=&...
近日,美国波士顿大学医学院(BUSM)和研究人员发现一种新的基因与创伤后应激障碍(PTSD)密切相关。研究结果发表在<em>Molecular Psychiatry</em>杂志上,该研究表明这个新发现的基因能保护脑细胞受到应激等破坏性影响,同时该基因也可能参与PTSD的发生。
<p align="center"><img src="http://www.bioon.com/biology/UploadFiles/201208/2012080819334418.jpg" alt="" width="500" height="333" border="0" /></p>
该篇报道是创伤后应激障碍的全基因组关联研究(GWAS)第一项具有重要意义的研究,研究揭示维甲酸相关孤儿受体α基因的变化(RORA)与PTSD的发生发展相关。BUSM和弗吉尼亚州波士顿医疗系统临床研究心理学家、全国PTSD中心副教授Mark W. Miller博士是这项研究的主要领导者。

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创伤后压力心理障碍症指人在遭遇或对抗重大压力后,其心理状态产生失调之后遗症。这些经验包括生命遭到威胁、严重物理性伤害、身体或心灵上的胁迫。有时候被称之为创伤后压力反应(post-traumatic stress reaction)以强调这个现象乃经验创伤后所产生之合理结果,而非病患心理状态原本就有问题。

以前的全基因组关联研究主要针对与其他精神疾病包括注意缺陷多动障碍、躁郁症、自闭症和抑郁症相关的RORA基因。像创伤后应激障碍,这类疾病的所有这些症状都已经与大脑功能的改变相关,RORA的主要职能之一就是保护脑细胞免受氧化应激、缺氧和炎症的破坏性影响。

研究的参加者约500名男性和女性退伍军人以及他们的亲密合作伙伴,所有人都经历了创伤,大约一半的人有PTSD。每个参与者由医生从他们的血液样本提取的DNA。DNA分析检查约150万遗传标记与PTSD相关,并揭示RORA基因变异(rs8042149)与PTSD有着高度关联性。这些结果表明,RORA风险变种的人更容易患上PTSD。

编译自:<a title="" href="http://www.sciencedaily.com/releases/2012/08/120807132213.htm" target="_blank">New Gene Linked to PTSD Identified</a>

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<a title="" href="http://dx.doi.org/10.1038/mp.2012.113" target="_blank">doi:10.1038/mp.2012.113</a>
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<br/><strong>A genome-wide association study of post-traumatic stress disorder identifies the retinoid-related orphan receptor alpha (RORA) gene as a significant risk locus. </strong><br/>


M W Logue, C Baldwin, G Guffanti, E Melista, E J Wolf, A F Reardon, M Uddin, D Wildman, S Galea, K C Koenen, M W Miller.

We describe the results of the first genome-wide association study (GWAS) of post-traumatic stress disorder (PTSD) performed using trauma-exposed white non-Hispanic participants from a cohort of veterans and their intimate partners (295 cases and 196 controls). Several single-nucleotide polymorphisms (SNPs) yielded evidence of association. One SNP (rs8042149), located in the retinoid-related orphan receptor alpha gene (RORA), reached genome-wide significance. Nominally significant associations were observed for other RORA SNPs in two African-American replication samples—one from the veteran cohort (43 cases and 41 controls) and another independent cohort (100 cases and 421 controls). However, only the associated SNP from the veteran African-American replication sample survived gene-level multiple-testing correction. RORA has been implicated in prior GWAS studies of psychiatric disorders and is known to have an important role in neuroprotection and other behaviorally relevant processes. This study represents an important step toward identifying the genetic underpinnings of PTSD.

 <br/>来源:生物谷

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