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与应激反应相关的HTR2C基因功能性多态性:一项验证研究。

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

作者信息

Brummett Beverly H, Babyak Michael A, Kuhn Cynthia M, Siegler Ilene C, Williams Redford B

机构信息

Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC, United States.

Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC, United States.

出版信息

Biol Psychol. 2014 Dec;103:317-21. doi: 10.1016/j.biopsycho.2014.10.006. Epub 2014 Oct 20.

DOI:10.1016/j.biopsycho.2014.10.006
PMID:25457638
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4258145/
Abstract

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.

摘要

此前我们已经表明,位于X染色体上的5-羟色胺2C(HTR2C)基因上的一个功能性非同义单核苷酸多态性(SNP),即rs6318,与下丘脑-垂体-肾上腺轴对实验室应激回忆任务的反应有关。本文报告了在第二个独立样本中对应激时皮质醇反应的验证。研究人群由60名成年参与者组成(73.3%为男性)。与我们之前的研究结果一致,与携带半胱氨酸23(Cys23)G等位基因的人相比,纯合丝氨酸23(Ser23)C等位基因的人在情绪应激回忆过程中,平均皮质醇反应显著更高(p=0.007),曲线下面积也显著更大(p=0.021)。同样与我们之前的报告一致,在应激过程中,从基线到平均值的皮质醇变化在Ser23C纯合子中大约是Cys23 G携带者的两倍。这些发现验证了我们最初关于rs6318与急性应激源的皮质醇反应之间关联的观察结果,并将结果扩展到女性。

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