Kim Su Kang, Park Hae Jeong, Seok Hosik, Jeon Hye Sook, Chung Joo-Ho, Kang Won Sub, Kim Jong Woo, Yu Gyeong Im, Shin Dong Hoon
Kohwang Medical Research Institute and Department of Pharmacology, School of Medicine, Kyung Hee University, Seoul, Korea.
Mol Biol Rep. 2014 May;41(5):3457-64. doi: 10.1007/s11033-014-3207-5. Epub 2014 Feb 9.
Monoamine oxidase A (MAOA) catalyzes monoamine neurotransmitters including dopamine, 5-hydroxytryptamine (5-HT, serotonin), and norepinephrine. MAOA also plays a key role in emotional regulation. The aim of this study was to investigate the associations between the exonic single nucleotide polymorphisms (SNPs) of the MAOA gene located on the X chromosome and schizophrenia. We also analyzed the relationships between these SNPs and the common clinical symptoms of schizophrenia such as persecutory delusion, auditory hallucinations, affective disturbances, and poor concentration. Two hundred seventy five Korean schizophrenia patients and 289 control subjects were recruited. Three SNPs [rs6323 (Arg294Arg), rs1137070 (Asp470Asp), and rs3027407 (3'-untranslated region)] of the MAOA gene were selected and genotyped by direct sequencing. The common clinical symptoms of schizophrenia according to the Operation Criteria Checklist were analyzed. Three examined SNPs showed no associations with male and female schizophrenia, respectively (p>0.05). In the analysis of the common clinical symptoms of schizophrenia patients, three examined SNPs were associated with affective disturbances, especially restricted affect and blunted affect in male schizophrenia, respectively (restricted affect, p=0.002, OR=2.71, 95% CI 1.45-5.00; blunted affect, p=0.009, OR 2.25, 95% CI 1.22-4.12). The SNPs were not associated with other clinical symptoms of schizophrenia (persecutory delusion, auditory hallucinations, and poor concentration). These results suggest that exonic SNPs (rs6323, rs1137070, and rs3027407) of the MAOA gene may be contributed to affective disturbances of Korean males schizophrenia, especially restricted affect and blunted affect.
单胺氧化酶A（MAOA）催化包括多巴胺、5-羟色胺（5-HT，血清素）和去甲肾上腺素在内的单胺神经递质。MAOA在情绪调节中也起着关键作用。本研究的目的是调查位于X染色体上的MAOA基因外显子单核苷酸多态性（SNP）与精神分裂症之间的关联。我们还分析了这些SNP与精神分裂症常见临床症状之间的关系，如被害妄想、幻听、情感障碍和注意力不集中。招募了275名韩国精神分裂症患者和289名对照受试者。选择了MAOA基因的三个SNP [rs6323（Arg294Arg）、rs1137070（Asp470Asp）和rs3027407（3'-非翻译区）]，并通过直接测序进行基因分型。根据操作标准清单分析了精神分裂症的常见临床症状。所检测的三个SNP分别与男性和女性精神分裂症均无关联（p>0.05）。在对精神分裂症患者常见临床症状的分析中，所检测的三个SNP分别与情感障碍相关，尤其是男性精神分裂症中的情感受限和情感迟钝（情感受限，p = 0.002，OR = 2.71，95% CI 1.45 - 5.00；情感迟钝，p = 0.009，OR 2.25，95% CI 1.22 - 4.12）。这些SNP与精神分裂症的其他临床症状（被害妄想、幻听和注意力不集中）无关。这些结果表明，MAOA基因的外显子SNP（rs6323、rs1137070和rs3027407）可能与韩国男性精神分裂症的情感障碍有关，尤其是情感受限和情感迟钝。
