摘要
目的 探讨CSMD1（CUB and Sushi multiple domains1）基因多态性与精神分裂症患者词语流畅性及脑灰质体积的关系.方法 对87例精神分裂症患者（患者组）及98名对照者（对照组）进行脑MRI检查、认知功能评估及全基因组单核苷酸多态性分型芯片检测.采用线性回归模型检验CSMD1基因上各单核苷酸多态性位点基因型与数字符号转换测验、词语流畅性测验评分的关联.采用全因子模型分析诊断和CSMD1基因型的主效应及交互效应脑区,并对交互作用显著的脑区灰质体积与认知评分进行偏相关分析.结果 患者组认知功能评估中数字符号转换测验（t=-7.51,P〈0.05）及词语流畅性测验评分较对照组显著下降（t=-3.23,P〈0.05）.患者组CSMD1基因rs17405197位点多态性与词语流畅性相关.全因子模型分析显示,左侧直回及双侧颞上回灰质体积存在诊断主效应;post hoc分析显示患者组在上述脑区灰质体积较对照组减小.右侧额下回三角部灰质体积存在CSMD1基因rs17405197基因型主效应[MNI坐标（x、y、z）为54、27、9,F=35.75,FWE校正,P〈0.05,连续体素k〉10];post hoc分析显示AA基因型携带者在该脑区较AC＋CC基因型携带者灰质体积减小.右侧额下回岛盖部灰质体积存在基因型×诊断的交互效应[MNI坐标（x、y、z）为51、20、15,F=20.55;P〈0.001,k〉100].偏相关分析显示,仅患者组右侧额下回岛盖部灰质体积与词语流畅性评分负相关（r=-0.28,P=0.01）.结论 CSMD1基因rs17405197多态性可能通过影响精神分裂症患者右侧额下回岛盖部灰质体积进而影响其词语流畅性功能.
Objective To explore the effect of single nucleotide polymorphisms in CSMD1 on grey matter volume（GMV）and verbal fluency in schizophrenic patients. Methods Eighty-seven schizophrenic patients and 98 normal controls underwent MRI scanning, cognitive assessment and whole-genome genotyping. Linear regression model was conducted to explore the association between the genotype of CSMD1 and cognitive function （digit symbol substitution test（DSST）,verbal fluency test（VFT））; The full factorial analysis was conducted to explore the effect of CSMD1 gene and diagnosis and diagnosis × gene interaction on GMV,then did the post hoc analysis and explored the association between cognition and the GMV of diagnosis×gene interaction. Results The performance scores of DSST（t=-7.51,P〈0.05）and VFT （t=-3.23,P〈0.05）were significantly reduced in patients. A significant association was observed between the polymorphisms of CSMD1 rs17405197 and the VFT performance scores in patients. The full factorial analysis showed that GMV in left rectal gyrus and bilateral superior temporal lobe had significant main effect of diagnosis;the post hoc analysis showed that compared with the healthy control,the GMV in the above regions was significantly reduced in patients. The main effect of CSMD1 rs17405197 genotype was found in the pars triangularis of right inferior frontal gyrus （MNI（x,y,z）：54,27,9,F=35.75,FWE correction,P〈0.05,k＆gt;10）;the post hoc analysis showed that compared with the CSMD1 rs17405197 AC＋CC carriers,the GMV in the above regions significantly decreased in subjects with AA genotype. The interaction effect between the diagnosis and genotype was found in the pars opercularis of right inferior frontal gyrus （MNI （x,y,z）：51,20,15,F=20.55,P〈0.001 uncorrected,k＆gt;100）. The partial correlation analysis showed that only in the patient group,the GMV in the pars opercularis of right inferior frontal gyrus was negatively correlated with VFT score（r=-0.28,P=0.01）. Conclusion The ef
出处
《中华精神科杂志》
CAS
CSCD
北大核心
2017年第4期282-288,共7页
Chinese Journal of Psychiatry
基金
国家重点基础研究发展计划（973计划）（2011CB707805）
国家自然科学基金（81370032）
关键词
精神分裂症
多态性
单核苷酸
认知
CSMD1
灰质体积
Schizophrenia
Polymorphism, single nucleotide
Cognition
CUB and Sushi multiple domainsl
Grey matter volume
