儿茶酚-O-甲基转移酶Vall58 Met和汉族精神分裂症的关联/连锁分析

Association analysis between Val 158Met polymorphism of catechol-O-methyltransferase gene and schizophrenia in Chinese Han nationality

目的 :探讨儿茶酚 -O -甲基转移酶 (COMT)第 15 8位密码子从缬氨酸到蛋氨酸的错义突变(Val15 8Met)多态性与精神分裂症的关系。方法 :在 42个至少包含 2名符合ICD -10精神分裂症诊断标准的患病同胞、父母存活的汉族家系中 ,对COMTVal15 8Met多态标记进行检测。结果 :1)COMT等位基因频度和基因型频度在父母组、非患病同胞组和患病同胞组之间无差异 ,在三组男女性别之间以及在精神分裂症不同亚型之间基因型频度和等位基因频度的分布也没有统计学意义的差异。 2 )传递不平衡性检验在患病同胞中无统计学差异 ,但发现有较多的高活性Val15 8COMT传递给非患病同胞 (P =0 0 14 )。 3)基因型与妄想、瓦解行为、思维形式障碍、情感障碍、人格解体和易激惹等临床特征相关。结论 :1)高活性COMTVal15 8等位基因或其附近与之连锁的其它基因对精神分裂症可能具有保护作用。 2 )对于本研究中的汉族精神分裂症来说 ,尚不能确定COMTVal15 8Met多态性与精神分裂症有关联 /连锁 。

Objective:To investigate the association between Val158Met polymorphism of catechol-O-methyltransferase(COMT)gene and schizophrenia in Chinese Han nationality. Method: The Val158Met polymorphism of COMT gene was tested in the Chinese Han's pedigrees where there were at least two schizophrenic affected-siblings according to the ICD-10 while both their parents are alive at the sample collection. Result: 1)The distributions of alleles or genotypes of COMT gene are not significantly different between the groups of parents,unaffected -siblings and affected-siblings,between different sex and between the sub-types of schizophrenia.2)The transmission disequilibrium test does not show the transmission disequibrilium in affected-siblings,but in unaffected-siblings(P=0.014).3)There are significant relations between COMT genotypes and delusion,affective disorders,depersonalization,disorganized behaviors,thought form disorders and irritation. Conclusion: 1)The high activity Val158 allele of COMT itself ,or its adjacent genes,plays a role of protecting from schizophrenia.2)For these Chinese Han schizophrenia in this study,we can not assure the association between Val158Met polymorphism of COMT gene and schizophrenia.On the other hand,we can not exclude that the Val158Met polymorphism of COMT gene affect clinical symptoms in schizophrenia,or associate with subtype of schizophrenia.