没有证据表明精神分裂症与决定儿茶酚-O-甲基转移酶活性高低的多态性之间存在等位基因关联。
No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity.
作者信息
Daniels J K, Williams N M, Williams J, Jones L A, Cardno A G, Murphy K C, Spurlock G, Riley B, Scambler P, Asherson P, McGuffin P, Owen M J
机构信息
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff.
出版信息
Am J Psychiatry. 1996 Feb;153(2):268-70. doi: 10.1176/ajp.153.2.268.
OBJECTIVE
Catechol O-methyltransferase (COMT) inactivates catecholamines by methylating their m-hydroxy group. Some previous studies using biochemical methods have found higher levels of COMT activity in schizophrenic patients. Recently, the genetic polymorphism that underlies variation in COMT activity, which results in the creation of a NlaIII restriction site in the low-activity allele, has been elucidated.
METHOD
This study investigated this polymorphism in 78 unrelated schizophrenic patients and 78 comparison subjects matched for age and ethnicity. High-molecular-weight DNA was isolated from lymphocytes with routine procedures, and each individual was typed for high and low COMT activity.
RESULTS
The frequency of the NlaIII polymorphism was 0.51 in the schizophrenic patients and 0.53 in the comparison subjects, and no significant allelic or genotypic associations were observed.
CONCLUSIONS
There was no evidence for variation in COMT activity between a group of schizophrenic patients and matched comparison subjects.
目的
儿茶酚-O-甲基转移酶（COMT）通过将儿茶酚胺的间羟基甲基化使其失活。此前一些使用生化方法的研究发现，精神分裂症患者的COMT活性水平较高。最近，已阐明了导致COMT活性变化的基因多态性，该多态性在低活性等位基因中产生了一个NlaIII限制性位点。
方法
本研究调查了78名无亲缘关系的精神分裂症患者以及78名年龄和种族匹配的对照受试者中的这种多态性。采用常规方法从淋巴细胞中分离高分子量DNA，并对每个个体的COMT活性高低进行分型。
结果
NlaIII多态性在精神分裂症患者中的频率为0.51，在对照受试者中的频率为0.53，未观察到显著的等位基因或基因型关联。
结论
没有证据表明一组精神分裂症患者与匹配的对照受试者之间的COMT活性存在差异。
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