豫北地区汉族人群 PPP1R1B基因多态性与精神分裂症的关联分析  

Association of protein phosphatase 1 regulatory subunit 1B(PPP1R1B)polymorphisms with schizophrenia in Han population of northern Henan province

作　　者：卢艳梨 王秀娟[1] 陈兆年 苏玺 刘松 杨勇锋[4] 李文强[3] Lu Yanli;Wang Xiujuan;Chen Zhaonian;Su Xi;Liu Song;Yang Yongfeng;Li Wenqiang(The Second Affiliated Hospital of Xinxiang Medical University,Nine Departments of Psychiatry,Henan Provincial Psychiatric Hospital,Xinxiang 453002,China;Pharmacy Department of Puyang People's Hospital Puyang 457000,China;Henan Key Lab of Biological Psychiatry,International Joint Research Laboratory for Psychiatry and Neuroscience of Henan of Xinxiang Medical University,Henan Collaborative Innovation Center of Prevention and Treatment of Mental Disorder,Xinxiang 453002,China;The Second Affiliated Hospital of Xinxiang Medical University,Henan Provincial Psychiatric Hospital,Physical Therapy Center,Xinxiang 453002,China)

机构地区：[1]新乡医学院第二附属医院,河南省精神病医院精神九科,新乡453002 [2]濮阳市人民医院药剂科,濮阳457000 [3]新乡医学院第二附属医院,河南省生物精神病学重点实验室,河南省精神神经医学国际联合实验室,精神心理疾病防治河南省协同创新中心,新乡453002 [4]新乡医学院第二附属医院,河南省精神病医院物理治疗中心,新乡453002

出　　处：《中华行为医学与脑科学杂志》2025年第2期131-137,共7页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：国家自然科学基金(82171498);河南省自然科学基金(232300421190)。

摘　　要：目的分析豫北汉族人群蛋白磷酸酶1调控亚基1B(PPP1R1B)基因的单核苷酸多态性(SNP)与精神分裂症的关联。方法在精神病学基因组学第三联盟(PGC3)数据库中筛选与精神分裂症显著关联的PPP1R1B基因的SNP,从豫北汉族人群中募集1721例精神分裂症患者和6726名健康对照,对位于PPP1R1B基因的SNP rs907094进行验证,通过阳性与阴性症状量表(PANSS)评定其中386例精神分裂症患者的临床症状。采用PLINK v1.9、Genetic Power Calculator、SPSS 20.0软件进行统计分析。采用表达数量性状基因座(QTL)关联分析探讨rs907094位点多态性与PPP1R1B基因表达的关系。结果病例组与对照组SNP rs907094的基因型AA、AG、GG[病例组:AA,489(28.4%);AG,848(49.3%);GG,384(22.3%);对照组:AA,1450(21.6%);AG,3386(50.3%);GG,1890(28.1%),χ^(2)=45.418,P<0.05]和等位基因频率[病例组:A,1826(53.1%);G,1616(46.9%);对照组:A,6286(46.7%);G,7166(53.3%),χ^(2)=43.877,P<0.05]比较,均差异有统计学意义。等位基因A携带者患精神分裂症的风险高于等位基因G携带者(OR=1.288,95%CI=1.195~1.388)。另外,PPP1R1B基因型与精神分裂症的临床特征关联,rs907094的AA型与GG型患者的兴奋/敌对因子分[(13.62±5.65)分,(15.54±4.66)分]差异具有统计学意义(P<0.05),AA型与AG型的认知因子分[(17.76±5.58)分,(19.43±5.73)分]差异具有统计学意义(P<0.05)。结论豫北汉族人群PPP1R1B基因rs907094与精神分裂症关联,该位点可能与精神分裂症兴奋/敌对症状及认知功能障碍有关联。Objective To investigate the association between single nucleotide polymorphism(SNP)of the protein phosphatase 1 regulatory subunit 1B(PPP1R1B)gene and schizophrenia in the Han population of northern Henan province.MethodsUtilizing Psychiatric Genomics Consortium 3(PGC3)data,the SNPs of PPP1R1B gene which were significantly associated with schizophrenia were screened.Subsequently,totally 1721 schizophrenia patients and 6726 healthy controls from the Han population in northern Henan province were recruited for further analysis.The SNP rs907094,located within the PPP1R1B gene was validated,and the clinical symptoms of 386 schizophrenia patients were evaluated using the positive and negative syndrome scale(PANSS).Additionally,expression quantitative trait loci(eQTL)association analysis was conducted to explore the relationship between the rs907094 polymorphism and PPP1R1B gene expression.The PLINK v1.9,Genetic Power Calculater,SPSS 20.0 softwares were used for data analysis.ResultsSignificant differences in genotype AA,AG,GG(schizophrenia group:AA,489(28.4%);AG,848(49.3%);GG,384(22.3%);control group:AA,1450(21.6%);AG,3386(50.3%);GG,1890(28.1%),χ^(2)=45.418,P<0.05)and allele frequency(schizophrenia group:A,1826(53.1%);G,1616(46.9%);control group:A,6286(46.7%);G,7166(53.3%),χ^(2)=43.877,P<0.05)were observed for SNP rs907094 between the schizophrenia group and control group.Individuals carrying allele A were identified to have a higher risk of developing schizophrenia compared to those carrying allele G(OR=1.288,95%CI=1.195-1.388).Furthermore,the genotype PPP1R1B gene was found to be associated with the clinical features of schizophrenia.A statistically significant difference was observed in the excitement/hostility factor between AA and GG patients with rs907094(13.62±5.65,15.54±4.66)(P<0.05).Additionally,significant differences were noted in the cognitive factor scores between AA and GA genotypes(17.76±5.58,19.43±5.73)(P<0.05).ConclusionsIn the Han population from northern Henan province,the rs907094 polymorphi

关 键 词：精神分裂症 蛋白磷酸酶1调控亚基1B 单核苷酸多态性 关联分析 临床症状 

分 类 号：R74[医药卫生—神经病学与精神病学]