血清叶酸、同型半胱氨酸水平和亚甲基四氢叶酸还原酶基因多态性与精神分裂症的关系  

Association of serum folic acid and homocysteine levels and 5, 10-methylenetetrahydrofolate reductase gene polymorphism with schizophrenia

作　　者：黑钢瑞[1] 庞礼娟[1] 陈旭梅[2] 张伟[1] 朱琪玥 吕路线[2] 宋学勤[1] 

机构地区：[1]郑州大学第一附属医院精神医学科,450052 [2]新乡医学院第二附属医院

出　　处：《中华医学杂志》2014年第37期2897-2901,共5页National Medical Journal of China

基　　金：国家自然科学基金（30971058,81071090）;河南省科技攻关项目（132102310136）

摘　　要：目的 探讨血清叶酸、同型半胱氨酸（HCY）水平和亚甲基四氢叶酸还原酶（MTHFR）基因多态性与精神分裂症的关系.方法 选取2013年1月至2014年1月在郑州大学第一附属医院住院治疗的精神分裂症患者130例（试验组）及同期的80名健康对照者（对照组）,采用电化学发光法测血清中叶酸水平,循环酶法测血清中HCY水平,PCR-芯片杂交法测MTHFR C677T基因型,阳性和阴性症状量表（PANSS）评定试验组入组时精神症状.结果 （1）试验组HCY水平[（20±10）μmol/L]高于对照组[（11 ±3） μmol/L] （P ＜0.001）,试验组叶酸水平[（6±4） ng/ml]低于对照组[（9±3） ng/ml] （P＜0.001）;（2）试验组MTHFR基因C677T位点CC型、CT型、TT型频率分别为13.1％、50.0％、36.9％,对照组的频率分别为30.0％、47.5％、22.5％,两组之间基因型分布差异有统计学意义（χ^2=36.806,P＜0.05）;试验组T、C等位基因频率分别为61.9％、38.1％,对照组T、C等位基因频率分别为46.2％、53.8％,两组间T等位基因频率分布差异有统计学意义（χ^2=9.872,P＜0.05）;试验组TT基因型频率为36.9％,对照组TT基因型频率为22.5％,两组间TT基因纯合型分布差异有统计学意义（χ^2=4.780,P＜0.05）;（3）相关分析显示,试验组叶酸水平和HCY水平呈负相关（r=-0.418,P＜0.001）;HCY水平与阴性症状分呈正相关（r=0.345,P＜0.001）,叶酸水平与阴性症状分呈负相关（r=-0.386,P＜0.001）;（4）在试验组中,MTHFRTT基因型HCY水平明显高于CC基因型、CT基因型（P＜0.05）.结论 精神分裂症患者血清叶酸、HCY水平与精神分裂症症状之间存在一定相关性,MTHFR基因C677T多态性可能是精神分裂症发病的危险因素之一.Objective To explore the association between serum concentrations of folic acid and homocysteine （HCY）,5,10-methylenetetrahydrofolate reductase （MTHFR） C667T polymorphism and schizophrenia.Methods A total of 130 schizophrenics （schizophrenia group） from our hospital and 80 healthy individuals （control group） were enrolled.The serum concentration of homocysteine was measured by the electrochemical luminescence method,the concentration of serum folic acid by enzymatic cycling assay and MTHFR C667T genotype by PCR-DNA microarray.And positive and negative syndrome scale （PANSS） was used to evaluate the mental symptoms.Results （1） Serum HCY level in schizophrenia group was higher than that in control group [（20 ± 10） vs （11 ± 3） μmol/L; P 〈 0.001] while serum folate level in schizophrenia group was lower than that in control group [（6 ±4） vs （9 ±3） ng/ml; P 〈0.001] ; （2）the frequencies of CC,CT and TT in MTHFR C677T alleles were 13.1%,50.0% and 36.9% in schizophrenia group versus 30.0%,47.5% and 22.5% in control group respectively.Statistical significant inter-group difference existed in the frequencies of genotypes （χ^2 =36.806,P 〈 0.05）.The frequencies of T and C alleles were 61.9%,38.1% in schizophrenia group versus 46.25%,53.75% in control group respectively.Statistical significant inter-group difference existed in the frequency of T allele （χ^2 =9.872,P〈0.05）.The frequency of TT genotype in schizophrenia group was 61.9% versus 22.5% in control group.Statistically significant inter-group difference existed in the frequency of TT homozygous mutation （χ^2 =4.780,P 〈 0.05） ; （3） correlation analysis showed that serum folate level in schizophrenia group had a negative correlation with HCY level （r =-0.418,P 〈 0.001）.Serum HCY level had a positive correlation with negative symptoms scores （r =0.345,P 〈 0.001） and serum folate level was negatively correlated with negative symptoms scores （r =-0.386,P 〈 0.001） ; （4） the se

关 键 词：叶酸 同型半胱氨酸 MTHFR C667T多态性 精神分裂症 

分 类 号：R749.3[医药卫生—神经病学与精神病学]