摘要
目的探讨CSMD1 (CUB and SUSHI multiple domains 1)基因三个多态性位点与精神分裂症及其认知功能的关联。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restrictive fragment length polymorphism,PCR-RFLP)技术对109例精神分裂症患者及109例健康对照者的CSMD1基因多态性进行检测,并选用蒙特利尔认知评估量表对其认知功能进行评定。使用SPSS 19.0软件对病例组和对照组间等位基因和基因型频率进行统计分析。结果 (1)与对照组相比,病例组rs10503253位点的基因型AA、AC、CC[病例组:AA,51(46.79%);AC,43(39.45%);CC,15(13.76%);对照组:AA,22(20.18%);AC,58(53.21%);CC,29(26.61%),χ^(2)=18.203,P<0.001]和等位基因频率[病例组:A,145(66.51%);C,73(33.49%);对照组:A,102(46.79%);C,116(53.21%),χ^(2)=17.269,P<0.001,OR=0.443,95%CI:0.301~0.652]分布均差异有统计学意义;(2)rs10503253位点上等位基因频率差异与病例组的视空间与执行功能障碍有关(χ^(2)=6.470,P=0.011,OR=2.089,95%CI:1.179~3.702)。(3)rs17405197位点上等位基因频率差异与病例组的语言功能障碍有关(χ^(2)=9.468,P=0.002,OR=0.415,95%CI:0.235~0.731)。(4)rs2740931位点上等位基因频率差异与病例组的语言功能障碍有关(χ^(2)=5.094,P=0.024,OR=2.016,95%CI:1.091~3.726)。结论 CSMD1基因多态性可能是精神分裂症患者发病的危险因素,与精神分裂症患者的认知障碍症状相关。
Objective To explore the relevance of the three polymorphic loci in the CUB and SUSHI multiple domains 1(CSMD1)gene with schizophrenia and its cognitive function.Methods Polymerase chain reaction-restrictive fragment length polymorphism(PCR-RFLP)was used to detect CSMD1 gene polymorphism in 109 schizophrenia patients(case group)and 109 healthy controls(control group),and the cognitive function was evaluated by Montreal cognitive assessment(MoCA).The allele and genotype frequencies between the case group and the control group were statistically analyzed by SPSS 19.0 software.Results(1)There were significant differences in the distribution of genotype AA,AC,CC(case group:AA,51(46.79%),AC,43(39.45%),CC,15(13.76%);control group:AA,22(20.18%),AC,58(53.21%),CC,29(26.61%),χ^(2)=18.203,P<0.001)and allele frequencies(case group:A,145(66.51%),C,73(33.49%);control group:A,102(46.79%),C,116(53.21%),χ^(2)=17.269,P<0.001,OR=0.443,95%CI:0.301-0.652)at rs10503253 loci between the case group and the control group.(2)Differences in allele frequencies at the rs10503253 loci were associated with the visual space and executive dysfunction in the case group(χ^(2)=6.470,P=0.011,OR=2.089,95%CI:1.179-3.702).(3)Differences in allele frequencies at the rs17405197 loci were associated with language dysfunction in the case group(χ^(2)=9.468,P=0.002,OR=0.415,95%CI:0.235-0.731).(4)Differences in allele frequencies at the rs2740931 loci were associated with language dysfunction in the case group(χ^(2)=5.094,P=0.024,OR=2.016,95%CI:1.091-3.726).Conclusion CSMD1 gene polymorphism may be a risk factor for the onset of schizophrenia,associated with symptoms of cognitive dysfunction in schizophrenia.
作者
袭琢
公宝霞
施胜志
Xi Zhuo;Gong Baoxia;Shi Shengzhi(Department of Psychiatry,Fourth Affiliated Hospital of Harbin Medical University,Harbin 150001,China)
出处
《中华行为医学与脑科学杂志》
CAS
CSCD
北大核心
2022年第7期634-640,共7页
Chinese Journal of Behavioral Medicine and Brain Science
关键词
精神分裂症
CSMD1
基因多态性
认知功能
Schizophrenia
CUB and Sushi multiple domains 1(CSMD1)gene
Gene polymorphism
Cognitive function
