NOTCH4基因的一个常见变体调节枕皮质的功能连接及其与精神分裂症特征的关系
发布时间：2021-06-23 浏览次数：0
精神分裂症是一种慢性严重的精神障碍性疾病，影响着全世界大约百分之一的人口。在健康人群中，部分表现出精神分裂症的临床前症状，被称之为分裂型特征。有研究发现精神分裂症基因有助于分裂型特征的显现。在不同种族中NOTCH4基因及其常见变异与精神分裂症都高度相关(欧洲、日本人群为rs2071287和rs3131296)。其中对台湾家庭的研究发现另一个SNP, rs204993，与精神分裂症的高风险相关，特别是rs204993 AA基因型。这些发现提示NOTCH4基因的共同变异SNP rs204993可能是中国人群精神分裂症的潜在遗传基础。
影像遗传学可以提供一个神经基础来解释基因与脑疾病之间的联系是如何影响疾病的发生和发展。其中功能连接强度(FCS)是很好的研究精神疾病神经机制的工具。本实验旨在探讨精神分裂症相关基因NOTCH4 rs204993基因型对健康志愿者脑功能的遗传效应及其与分裂型特征的关系。
研究方法
研究结果
图一. Modulatory effect of rs204993 on the functional strength (FCS).
The X-axis shows the different genotypes, and the Y-axis shows the mean ± SD of the FCS in the occipital cortex. Group comparisons revealed that the FCS in the occipital cortex was the highest in GG individuals and decreased from GG and AG individuals to AA individuals. All thresholds for comparisons were set as a whole brain Gaussian random field (GRF) correction (voxel P<0.001, cluster P<0.05).
图二：Relationship between the functional strength (FCS) in the occipital cortex and schizotypal traits among the GG genotype carriers.
The FCS in the occipital cortex was negatively correlated with the score of schizotypal personality questionnaire (SPQ) and its subscale scores (cognitive perceptual and interpersonal) among the GG genotype carriers. Note: ***p < 0.001, *p < 0.05.
图三：Relationship between the functional strength (FCS) in the occipital cortex and schizotypal traits among the AA and AG genotype carriers.
No significant correlation was found between the FCS in the occipital cortex and the schizotypal personality questionnaire scores or its subscale scores.
