儿茶酚胺氧位甲基转移酶900Ins C/900Del C基因多态性与精神分裂症的关联性研究

Association study of polymorphism of catechol-O-methyltransferase gene and schizophrenia

目的探讨儿茶酚胺氧位甲基转移酶900InsC/900DelC基因多态性与精神分裂症的关联。方法对232例符合入组标准的精神分裂症患者和141例同期健康对照者进行病例-对照研究,采用限制性片段长度多态技术测定基因型。结果COMT基因900InsC/900DelC多态性突变率为20%,该多态性在精神分裂症患者组和正常对照组基因型及基因频率差异无统计学意义,该多态性基因型及基因频率在不同家族史患者组间分布无差异显著性;COMT基因900InsC/900DelC多态性的野生基因型InsC/InsC在男性患者中出现的频率为正常男性对照的2.19倍,InsC/InsC基因型与男性精神分裂症存在关联性;女性患者与同性别对照无此相关性。精神分裂症患者各亚型之间基因型和基因频率未见显著性差异,但InsC/DelC在阳性亚型中的比值(0.55)明显较混合型(0.37)中增高,即与混合型相比InsC/DelC基因型与阳性亚型更相关(OR=2.073)。结论COMT基因第六外显子900InsC/900DelC多态性InsC/InsC基因型是男性精神分裂症易感因素;该多态性与精神分裂症亚型不存在相关性,对精神分裂症患者遗传背景也没有影响。

[Objective] To explore the relationship between 900Ins C/Del C polymorphism of eateehol-O-methyltransferase （COMT） gene and schizophrenia in Chinese Han people. [Methods] 232 Chinese Han patients with schizophrenia and 141 normal control were studied using restriction fragment length polymorphism （RFLP） technique. [Results] The mutation rate of COMT gene 900Ins C/900Del C polymorphism was 20%. The frequency of genotype and allele in schizophrenic group was not significantly different compared with control group about the polymorphism of COMT; the frequency of genotype and alleles on different schizophrenia groups classified by family medical history was not significantly different; the Ins C/Ins C wild genotype of COMT 900Ins C/900Ins C polymorphism in male patients was 2.19 times more than normal female controls. So Ins C/Ins C genotype was associated with male schizophrenia, but the association didn＇t exist between female schizophrenia group and female control group. Genotype and gene frequency among every subtype of schizophrenia were not significantly different, the ratio of Ins C/Del C in positive subtype （0.55） was obviously higher than that in mixed type （0.37）. We found that Ins C/Del C genotype associated with positive subtype more than mixed type. The genotype and gene frequency of COMT gene 900Ins C/900Del C polymorphism were no difference among different subtypes. [Conclusions] The Ins C/Ins C genotype of the COMT gene 900Ins C/900Del C polymorphism located in the sixth exon is possible susceptibility factor of male schizophrenia; COMT gene 900Ins C/900Del C polymorphism isn＇t association with the subtypes of schizophrenia; and it doesn＇t have effect on schizophrenia genetic background.