School of Forensic Medicine, Kunming Medical University, Kunming, Yunnan Province, People's Republic of China.
Department of Psychiatry, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, People's Republic of China.
Ann Hum Biol. 2023 Feb;50(1):1-8. doi: 10.1080/03014460.2023.2212176.
Schizophrenia spectrum disorder (SSD) is a common mental disorder causing severe and chronic disability. Epigenetic changes in genes related to the hypothalamic-pituitary-adrenal (HPA) axis are believed to play an important role in SSD pathogenesis. The methylation status of the corticotropin-releasing hormone () gene, which is central to the HPA axis, has not been investigated in patients with SSD.
We investigated the methylation status of the coding region of the gene (hereafter, methylation) using peripheral blood samples from patients with SSD.
We used sodium bisulphite and MethylTarget to determine methylation after collecting peripheral blood samples from 70 patients with SSD who had positive symptoms and 68 healthy controls.
methylation was significantly increased in patients with SSD, especially in male patients.
Differences in methylation were detectable in the peripheral blood of patients with SSD. Epigenetic abnormalities in the gene were closely related to positive symptoms of SSD, suggesting that epigenetic processes may mediate the pathophysiology of SSD.
精神分裂症谱系障碍（SSD）是一种常见的精神障碍，可导致严重和慢性残疾。与下丘脑-垂体-肾上腺（HPA）轴相关的基因的表观遗传变化被认为在 SSD 的发病机制中起重要作用。HPA 轴的核心——促肾上腺皮质激素释放激素（CRH）基因的甲基化状态尚未在 SSD 患者中进行研究。
我们使用 SSD 患者的外周血样本，调查 CRH 基因编码区的甲基化状态（以下简称 CRH 甲基化）。
我们采集了 70 名有阳性症状的 SSD 患者和 68 名健康对照者的外周血样本，使用亚硫酸氢盐和 MethylTarget 来确定 CRH 甲基化。
SSD 患者的 CRH 甲基化显著增加，尤其是男性患者。
SSD 患者的外周血中可检测到 CRH 甲基化的差异。CRH 基因的表观遗传异常与 SSD 的阳性症状密切相关，提示表观遗传过程可能介导 SSD 的病理生理学。
