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A functional polymorphism in the HTR2C gene associated with stress responses: A validation study

机译:与应力响应相关的HTR2C基因中的功能多态性:验证研究

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摘要

Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (SNP), rs6318 on the HTR2C gene located on the X-chromosome, is associated with hypothalamic-pituitary-adrenal axis response to a laboratory stress recall task. The present paper reports a validation of the cortisol response to stress in a second, independent sample. The study population consisted of 60 adult participants (73.3% males). Consistent with our prior findings, compared to Cys23 G allele carriers, persons homozygous for the Ser23C allele had a significantly greater average cortisol response (p = 0.007) and area under the curve (p = 0.021) over the course of an emotional stress recall protocol. Also parallel to our prior report, the change in cortisol from baseline to the average during the stress protocol was roughly twice as large among Ser23C homozygotes than among persons with Cys23 G. These findings validate our initial observation of association between rs6318 and cortisol response to an acute stressor, and extend the results to include females. (C) 2014 Elsevier B.V. All rights reserved.
机译:以前,我们已经表明,位于X-染色体上的HTR2C基因上的功能性非型单核苷酸多态性(SNP),RS6318与对实验室应力召回任务的下丘脑 - 垂体 - 肾上腺轴响应有关。本文报告了验证皮质醇反应在第二个独立样本中的压力。研究人口由60名成人参与者(73.3%的男性)组成。与我们的先前发现一致,与Cys23 G等位基因载体相比,Ser23C等位基因纯合的人在情绪压力召回协议的过程中具有明显更大的平均皮质醇反应(P = 0.007)和曲线下的面积(P = 0.021) 。同样平行于我们的先前报告,在应激议定书中的基线到平均水平的皮质醇的变化大约在Ser23C纯合子中的平均值,而不是Cys23 G.这些发现验证了我们对RS6318和皮质醇之间关联的初步观察急性压力源,并将结果扩展到包括女性。 (c)2014 Elsevier B.v.保留所有权利。

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