精神分裂症并发2型糖尿病与五羟色胺2C受体基因多态性的关联性  

Association between 5-HTR2C gene polymorphisms and schizophrenia with comorbid type 2 diabetes mellitus

作　　者：郭向晴 赵静[2] 易正辉[2] 介勇[1] 吕钦谕[2] 黄欣欣 朱光[1] 徐阿红[1] 杨隽渊 李君[3] 汪晓晖 GUO Xiang-qing;ZHAO Jing;YI Zheng-hui;JIE Yong;LYU Qin-yu;HUANG Xin-xin;ZHU Guang;XU A-hong;YANG Juan-yuan;LI Jun;WANG Xiao-hui(Hongkou District Mental Health Center of Shanghai,Shanghai 200083,China;Shanghai Mental Health Center,Shanghai 200030,China;Xuhui District Mental Health Center of Shanghai,Shanghai 200232,China;Qingpu District Mental Health Center of Shanghai,Shanghai 201721,China)

机构地区：[1]上海市虹口区精神卫生中心,上海200083 [2]上海市精神卫生中心,上海200030 [3]上海市徐汇区精神卫生中心,上海200232 [4]上海市青浦区精神卫生中心,上海201721

出　　处：《复旦学报（医学版）》2021年第1期1-7,共7页Fudan University Journal of Medical Sciences

基　　金：上海市虹口区卫计委医学科研课题(虹卫1703-31);国家自然科学基金(81671326,81171272);上海市青浦区科技发展项目(青科发2014-19);上海市虹口区“国医强优”三年行动计划(2018-2020)(HGY-ZXYJH-2018-01)。

摘　　要：目的探讨在中国汉族人群中精神分裂症(schizophrenia,SCZ)患者中并发2型糖尿病(type 2 diabetes mellitus,T2DM)与五羟色胺2C受体(serotonin 2C receptor,5-HTR2C)基因多态性(rs2192371、rs5988072)的关联性。方法纳入服用氯氮平伴有T2DM(共病组257例)或不伴有T2DM(单纯SCZ组288例)的长期住院SCZ患者,单纯T2DM患者(单纯T2DM组264例)以及正常人群(对照组625例)为研究对象,采用Taqman基因分型技术对5-HTR2C基因的单核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs2192371、rs5988072)进行基因分型,比较各研究组的等位基因、基因型及单体型分布频率有无差异。结果(1)单位点分析显示:共病组与对照组比较,rs2192371(χ^2=19.799,df=2,P<0.001;χ^2=7.437,df=1,P=0.006)和rs5988072(χ^2=28.682,df=2,P<0.001;χ^2=24.127,df=1,P<0.001)基因型频率和等位基因频率分布差异均有统计学意义;单纯T2DM与对照组比较,rs2192371基因型频率分布差异有统计学意义(χ^2=13.715,df=2,P=0.001),而等位基因频率分布差异无统计学意义,rs5988072等位基因和基因型频率分布差异均有统计学意义(χ^2=11.378,df=2,P=0.003;χ^2=7.142,df=1,P=0.007)。单纯SCZ组与对照组相比,rs2192371基因型频率及等位基因频率分布差异均无统计学意义(P>0.05),rs5988072基因型频率分布差异为边缘性(χ^2=6.026,df=2,P=0.049),而等位基因频率分布虽然有差异(χ^2=4.964,df=1,P=0.025),但经过Bonforrnie校正后无差异。而在SCZ患者中,共病组与单纯SCZ组相比,rs2192371(χ^2=11.279,df=2,P=0.003;χ^2=8.061,df=1,P=0.004)和rs5988072(χ^2=7.013,df=2,P=0.030;χ^2=5.931,df=1,P=0.014)基因型频率和等位基因频率分布差异均有统计学意义。(2)单体型分析显示:共病组和单纯SCZ组比较,由rs2192371-rs5988072组成的单体型AC(OR=1.351,χ^2=5.841,P=0.015)和GT(OR=0.692,χ^2=7.592,P=0.004)差异有统计学意义,单体型AT差异无统计学意义。共病组和单纯T2DM组比较,两组间单体型AC、GT和AT差�Objective To investigate the association between schizophrenia(SCZ)with type 2 diabetes mellitus(T2 DM)and serotonin 2 C receptor(5-HTR2 C)gene polymorphism(rs2192371,rs5988072)in Chinese Han population.Methods Long-term hospitalized SCZ patients taking clozapine with T2 DM(comorbidity group,n=257),SCZ patients without T2 DM(SCZ group,n=288),T2 DM patients(T2 DM group,n=264)and healthy control group(HC group,n=625)were enrolled.The single nucleotide polymorphism(SNP)loci(rs2192371,rs5988072)of 5-HTR2 C gene were genotyped by Taqman genotyping technique.The allele,genotype and haplotype distribution frequency of each group were compared.Results(1)Single-locus analysis showed that there were significant differences in genotype and allele frequency between the comorbidity group and HC group in rs2192371(χ^2=19.799,df=2,P<0.001;χ^2=7.437,df=1,P=0.006)and rs5988072(χ^2=28.682,df=2,P<0.001;χ^2=24.127,df=1,P<0.001).There was significant difference in the frequency distribution of rs2192371 genotypes between T2 DM and HC group(χ^2=13.715,df=2,P=0.001),but there was no significant difference in the distribution of allele frequency.There were significant differences in the distribution of rs5988072 allele and genotype frequency(χ^2=11.378,df=2,P=0.003;χ^2=7.142,df=1,P=0.007).There was no significant difference in the distribution of rs2192371 genotype frequency and allele frequency between SCZ and HC group,while the difference of genotype frequency distribution of rs5988072 was marginal(χ^2=6.026,df=2,P=0.049).Although there was significant difference in allele frequency distribution(χ^2=4.964,df=1,P=0.025),there was no significant difference after Bonforrnie correction.In patients with schizophrenia,there were significant differences in the distribution of genotype and allele frequencies of rs2192371(χ^2=11.279,df=2,P=0.003;χ^2=8.061,df=1,P=0.004)and rs5988072(χ^2=7.013,df=2,P=0.030;χ^2=5.931,df=1,P=0.014)between the comorbidity group and the SCZ group.(2)haplotype analysis showed that there was significant d

关 键 词：精神分裂症(SCZ) 2型糖尿病(T2DM) 5-HTR2C基因 多态性 中国汉族人群 

分 类 号：R749.3[医药卫生—神经病学与精神病学]