鉴定汉族男性精神分裂症患者外周血细胞中 Y 染色体的缺失情况。

Characterization of loss of chromosome Y in peripheral blood cells in male Han Chinese patients with schizophrenia.

机构信息

Department of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, China.

Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

出版信息

BMC Psychiatry. 2023 Jun 27;23(1):469. doi: 10.1186/s12888-023-04929-z.

DOI:10.1186/s12888-023-04929-z

PMID:37370034

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10304327/

Abstract

BACKGROUND

Schizophrenia (SCZ) has a global prevalence of 1% and increases the risk of mortality, reducing life expectancy. There is growing evidence that the risk of this disorder is higher in males than in females and it tends to develop in early adulthood. The Y chromosome is thought to be involved in biological processes other than sex determination and spermatogenesis. Studies have shown that loss of chromosome Y (LOY) in peripheral blood cells is associated with a variety of diseases (including cancer) and increased all-cause mortality. An analysis of the relationship between LOY and schizophrenia is warranted.

METHODS

A total of 442 Chinese males (271 patients with schizophrenia vs. 171 controls) were included in this study. The copy numbers of the Y and X chromosomes were detected by positive droplets targeting the amelogenin gene (AMEL) on the Y chromosome and X chromosome (AMELY and AMELX, respectively), using droplet digital PCR (ddPCR). The LOY percentage was defined as the difference between the concentration of AMELX and the concentration of AMELY divided by the concentration of AMELX, denoted as (X - Y)/X.

RESULTS

In the Han Chinese population, the LOY percentage was higher in the schizophrenia group than in the control group (p < 0.05), although there was no significant difference in the presence of LOY between the two groups. A strong correlation was found between the average of the disease duration and the average of the LOY percentage (R = 0.506, p = 0.032). The logistic regression analysis implied that the risk of LOY increases by 0.058 and 0.057 per year according to age at onset and duration of disease, respectively (p = 0.013, p = 0.017).

CONCLUSIONS

In the Han Chinese population, the LOY percentage of the disease group was significantly different from that of the control group. The age of onset and duration of schizophrenia might be risk factors for LOY in peripheral blood cells. A larger sample size and expanded clinical information are needed for more in-depth and specific analyses.

摘要

背景

精神分裂症（SCZ）的全球患病率为 1%，会增加死亡率，从而降低预期寿命。越来越多的证据表明，这种疾病的风险在男性中高于女性，并且往往在成年早期发病。Y 染色体被认为参与了除性别决定和精子发生以外的生物学过程。研究表明，外周血细胞中 Y 染色体的丢失（LOY）与多种疾病（包括癌症）和全因死亡率增加有关。有必要分析 LOY 与精神分裂症之间的关系。

方法

本研究共纳入 442 名中国男性（271 名精神分裂症患者与 171 名对照）。使用液滴数字 PCR（ddPCR），通过针对 Y 染色体和 X 染色体上的 amelogenin 基因（AMEL）的阳性液滴（分别为 AMELY 和 AMELX）检测 Y 和 X 染色体的拷贝数。将 LOY 百分比定义为 AMELX 浓度与 AMELY 浓度之差除以 AMELX 浓度，记为（X-Y）/X。

结果

在汉族人群中，精神分裂症组的 LOY 百分比高于对照组（p<0.05），但两组之间 LOY 的存在无显著差异。疾病持续时间的平均值与 LOY 百分比的平均值之间存在很强的相关性（R=0.506，p=0.032）。逻辑回归分析表明，LOY 的风险分别按发病年龄和疾病持续时间每年增加 0.058 和 0.057（p=0.013，p=0.017）。