Chen C H, Lee Y R, Chung M Y, Wei F C, Koong F J, Shaw C K, Yeh J I, Hsiao K J
Department of Psychiatry, Tzu-Chi General Hospital, Hualien City, Taiwan.
Am J Psychiatry. 1999 Aug;156(8):1273-5. doi: 10.1176/ajp.156.8.1273.
Catechol O-methyltransferase (COMT) is involved in the degradation of catecholamine neurotransmitters. Recent linkage studies of schizophrenia and molecular studies of velocardiofacial syndrome suggest that the COMT gene might be a candidate gene for schizophrenia.
The authors systematically searched for mutations and microdeletion of the COMT gene in 177 Chinese schizophrenic patients from Taiwan; 99 comparison subjects were also studied.
Five molecular variants were identified: c.186C > T at exon 3, c.408C > G at exon 4, c.472G > A at exon 4, c.597G > A at exon 5, and c.821-827insC at the 3' untranslated region. However, no differences in the genotype and haplotype frequencies of these molecular variants between the schizophrenic and comparison subjects were detected. Furthermore, no microdeletion was identified among the patients.
These data suggest that the COMT gene does not play a major role in the pathogenesis of schizophrenia, and the genotypic overlap between schizophrenia and velocardiofacial syndrome was rare in this cohort.
儿茶酚氧位甲基转移酶（COMT）参与儿茶酚胺神经递质的降解。近期关于精神分裂症的连锁研究及腭心面综合征的分子研究表明，COMT基因可能是精神分裂症的候选基因。
作者系统筛查了来自台湾的177例中国精神分裂症患者的COMT基因突变及微缺失情况；同时对99例对照受试者进行了研究。
共鉴定出5种分子变异：外显子3的c.186C>T、外显子4的c.408C>G、外显子4的c.472G>A、外显子5的c.597G>A以及3'非翻译区的c.821 - 827insC。然而，未检测到精神分裂症患者与对照受试者之间这些分子变异的基因型及单倍型频率存在差异。此外，在患者中未发现微缺失。
这些数据表明，COMT基因在精神分裂症发病机制中不发挥主要作用，且在该队列中精神分裂症与腭心面综合征之间的基因型重叠情况罕见。
