Kucukali Cem Ismail, Aydin Makbule, Ozkok Elif, Bilge Emine, Zengin Asli, Cakir Ulku, Kara Ihsan
Department of Neurology, Istanbul Erenkoy Psychiatric and Neurological Disorders Hospital, Turkey.
Psychiatr Genet. 2010 Feb;20(1):14-9. doi: 10.1097/YPG.0b013e3283351194.
Family, twin and adoption studies have provided major evidence for the role of genetics in numerous psychiatric disorders including schizophrenia (SZ) and bipolar disorders (BDs). As SZ and BD have some susceptibility genes in common and since unaffected first-degree relatives of these patients carry a high likelihood of these susceptibility genes, we aimed to elucidate the role of angiotensin-converting enzyme (ACE) genetic variants in patients with SZ, BD and their first-degree relatives.
The study sample comprised 239 patients with SZ, 184 patients with BD, 284 unaffected first-degree biological relatives of patients with SZ and 301 unaffected first-degree biological relatives of patients with BD and 210 healthy controls. The ACE genotypes were determined by polymerase chain reaction.
ACE insertion/deletion polymorphism was associated with SZ and BD. DD genotype and D allele distributions in bipolar patients and their first-degree relatives were significantly higher than those of SZ patients, their relatives, and controls. In contrast, II genotype and I allele were reduced in both the patient groups and their relatives as compared with controls.
In this study, the D allele might be responsible for clustering of psychotic symptoms and results in the psychotic manifestations of BD, whereas I allele seems to be protective against development of SZ and BD. SZ and BD characterized by similar or different gene variant in ACE could be a useful marker for these psychiatric disorders, if this polymorphism is replicated in the future studies.
家族、双生子和收养研究为遗传学在包括精神分裂症(SZ)和双相情感障碍(BD)在内的多种精神疾病中的作用提供了主要证据。由于SZ和BD有一些共同的易感基因,且这些患者的未患病一级亲属携带这些易感基因的可能性很高,我们旨在阐明血管紧张素转换酶(ACE)基因变异在SZ、BD患者及其一级亲属中的作用。
研究样本包括239例SZ患者、184例BD患者、284例SZ患者的未患病一级生物学亲属、301例BD患者的未患病一级生物学亲属以及210名健康对照。通过聚合酶链反应确定ACE基因型。
ACE插入/缺失多态性与SZ和BD相关。双相情感障碍患者及其一级亲属中的DD基因型和D等位基因分布显著高于SZ患者及其亲属以及对照组。相比之下,与对照组相比,两组患者及其亲属中的II基因型和I等位基因均减少。
在本研究中,D等位基因可能是导致精神病性症状聚集并导致BD出现精神病性表现的原因,而I等位基因似乎对SZ和BD的发生具有保护作用。如果这种多态性在未来的研究中得到重复验证,那么以ACE中相似或不同基因变异为特征的SZ和BD可能是这些精神疾病的一个有用标志物。