Department of Psychiatry, Eulji University School of Medicine, Daegeon, Korea.
Psychiatry Investig. 2009 Jun;6(2):102-7. doi: 10.4306/pi.2009.6.2.102. Epub 2009 Jun 30.
We performed a genetic association study with schizophrenic patients to investigate whether the V-akt murine thymoma viral oncogene homolog 1 (AKT1) gene plays a role in obstetric complications.
One-hundred-eighty patients with schizophrenia (male, 113; female, 67) were included. All patients fulfilled DSM-IV criteria for schizophrenia. Obstetric complications were measured by the Lewis scale. Prenatal and perinatal information was retrospectively collected from the patients' mothers. We selected six single nucleotide polymorphisms (SNPs) for the AKT1 gene: SNP1 (rs3803300), SNP2 (rs1130214), SNP3 (rs3730358), SNP4 (rs 1130233), SNP5 (rs2494732), and SNPA (rs2498804). The genotype data were analyzed for an association with the Lewis total score in terms of allele, genotype, and haplotype distribution.
The mean total Lewis scores were 1.30+/-1.61 for males and 1.54+/-1.87 for females. Higher total score tended to be correlated with an earlier age of onset of schizophrenia in females. In the total sample, no SNP was associated with obstetric complications. However, the additional analyses for male and female subgroups found a significant association between SNPA and SNP4 and Lewis score in females (p=0.02 for SNPA, p=0.04 for SNP4). The SNP5-SNPA haplotype showed a positive association with obstetric complications (p=0.03) in the female patient group.
We found an association between SNPs in the AKT1 gene and total Lewis score measuring obstetric complications in female patients with schizophrenia. Because these findings did not survive a correction for multiple testing, the significance should be interpreted carefully and replication studies are required.
我们对精神分裂症患者进行了一项遗传关联研究,以探讨丝氨酸/苏氨酸激酶 1(AKT1)基因是否在产科并发症中起作用。
共纳入 180 例精神分裂症患者(男性 113 例,女性 67 例)。所有患者均符合 DSM-IV 精神分裂症诊断标准。产科并发症采用 Lewis 量表进行测量。从患者母亲处收集产前和围产期信息。我们选择 AKT1 基因的 6 个单核苷酸多态性(SNP):SNP1(rs3803300)、SNP2(rs1130214)、SNP3(rs3730358)、SNP4(rs1130233)、SNP5(rs2494732)和 SNP6(rs2498804)。分析基因型数据与 Lewis 总分之间的关联,包括等位基因、基因型和单倍型分布。
男性的平均总 Lewis 评分为 1.30+/-1.61,女性为 1.54+/-1.87。总评分较高与女性精神分裂症发病年龄较早有关。在总样本中,没有 SNP 与产科并发症相关。然而,对男性和女性亚组的进一步分析发现,SNP6(rs2498804)和 SNP4(rs1130233)与女性的 Lewis 评分存在显著关联(SNP6(rs2498804),p=0.02;SNP4(rs1130233),p=0.04)。SNP5-SNP6 单倍型与女性患者的产科并发症呈正相关(p=0.03)。
我们发现 AKT1 基因中的 SNP 与衡量精神分裂症女性患者产科并发症的总 Lewis 评分之间存在关联。由于这些发现未通过多重检验校正,因此应谨慎解释其意义,并需要进行复制研究。