Institute of Molecular Medicine, National Cheng Kung University Medical College, Tainan, Taiwan.
Behav Brain Funct. 2008 May 24;4:21. doi: 10.1186/1744-9081-4-21.
Monoamine oxidase A (MAOA) is a mitochondrial enzyme involved in degrading several different biological amines, including serotonin. Although several pieces of evidence suggested that MAOA is important in the etiology of bipolar affective disorder (BPD), associations for markers of the MAOA gene with BPD were not conclusive and the association has not been investigated in Taiwanese population. This study was designed to illustrate the role of MAOA in the etiology of BPD in Han Chinese.
Two markers, a dinucleotide polymorphism in exon 2 and a functional uVNTR on the promoter of the MAOA gene, were used to study the genetic association in 108 unrelated patients with BPD and 103 healthy controls. Allelic distributions of two polymorphisms were analyzed and, caused the MAOA located at X chromosome, haplotype association was performed using haplotype unambiguously assigned in male participants.
While no difference in allelic distributions of two MAOA polymorphisms was found, the risk haplotype 114S was associated with BPD in male patients (P = 0.03). The significance, however, was not found in female patients with 114S haplotype.
Results from this study suggest that MAOA may have a gender-specific and small effect on the etiology of BPD in Taiwan. Due to the limited sample size, results from this study need to be confirmed in replicates.
单胺氧化酶 A（MAOA）是一种参与降解多种生物胺的线粒体酶，包括血清素。尽管有几项证据表明 MAOA 在双相情感障碍（BPD）的发病机制中很重要，但 MAOA 基因标记与 BPD 的关联并不明确，并且尚未在台湾人群中进行过研究。本研究旨在阐明 MAOA 在汉族人群中 BPD 发病机制中的作用。
使用 MAOA 基因外显子 2 中的二核苷酸多态性和启动子上的功能性 uVNTR 两种标记物，研究了 108 例无关 BPD 患者和 103 例健康对照者的遗传关联。分析了两种多态性的等位基因分布，并由于 MAOA 位于 X 染色体上，因此在男性参与者中使用明确分配的单体型进行单体型关联分析。
虽然两种 MAOA 多态性的等位基因分布没有差异，但 114S 风险单体型与男性患者的 BPD 相关（P = 0.03）。然而，在携带 114S 单体型的女性患者中未发现这种意义。
本研究结果表明，MAOA 可能对台湾 BPD 的发病机制具有性别特异性和较小的影响。由于样本量有限，本研究的结果需要在重复研究中得到证实。
