Mental Health Research Center, Russian Academy of Medical Sciences, Moscow, Russia.
Psychiatry Res. 2009 Dec 30;170(2-3):168-71. doi: 10.1016/j.psychres.2008.07.007. Epub 2009 Nov 10.
A subtle genetic defect in homocysteine metabolism is thought to play an etiologic role in schizophrenia. Cystathionine-beta-synthase (CBS) is a key enzyme related to homocysteine levels. The aim of the present study was to search for association between the 844ins68 polymorphism of the CBS gene and schizophrenia in a large Russian sample using case-control and family-based designs. The sample comprised 1135 patients, 626 controls and 172 families. There was a trend for association between the 844ins68 polymorphism and schizophrenia in the case-control study, with higher frequency of the insertion in the control group. The FBAT revealed a statistically significant difference in transmission of alleles from parents to the affected proband, with preferential transmission of the variant without insertion. When the sample of patients was stratified by sex and forms of schizophrenia, the significantly lower frequency of insertion was observed in the group of female patients with chronic schizophrenia (n=180) as compared to psychiatrically well women. The insertion variant has been reported earlier to be related to decreased levels of homocysteine and thus thought to play a protective role. In conclusion, our study revealed a possible relation of the CBS 844ins68 polymorphism to schizophrenia.
同型半胱氨酸代谢中的微妙遗传缺陷被认为在精神分裂症的发病机制中起作用。胱硫醚-β-合酶（CBS）是与同型半胱氨酸水平相关的关键酶。本研究的目的是使用病例对照和家系设计，在一个大型俄罗斯样本中寻找 CBS 基因 844ins68 多态性与精神分裂症之间的关联。该样本包括 1135 名患者、626 名对照和 172 个家庭。病例对照研究显示 844ins68 多态性与精神分裂症之间存在关联趋势，对照组插入的频率更高。FBAT 显示从父母到受影响先证者的等位基因传递存在统计学上的显著差异，具有插入缺失的变体优先传递。当按性别和精神分裂症形式对患者样本进行分层时，与精神健康的女性相比，慢性精神分裂症的女性患者（n=180）组中插入的频率明显较低。插入变体先前已被报道与同型半胱氨酸水平降低有关，因此被认为具有保护作用。总之，我们的研究揭示了 CBS 844ins68 多态性与精神分裂症之间可能存在的关系。
