Kunugi H, Vallada H P, Hoda F, Kirov G, Gill M, Aitchison K J, Ball D, Arranz M J, Murray R M, Collier D A
Department of Psychological Medicine, Institute of Psychiatry, London, United Kingdom.
Biol Psychiatry. 1997 Aug 15;42(4):282-5. doi: 10.1016/S0006-3223(96)00366-6.
Catechol-o-methyltransferase (COMT) is an enzyme that inactivates biologically active or toxic catechols. Previous studies have yielded inconsistent results on the relationship between erythrocyte COMT activity and affective disorders. Recently an amino acid change (Val-108-Met) of the COMT protein was shown to determine high- and low-activity alleles of the enzyme. Using polymerase chain reaction and the restriction enzyme NLaIII, we genotyped 107 patients with bipolar disorder, 62 with unipolar depression, and 121 controls. Neither bipolar nor unipolar patients differ significantly in the genotypic or allelic frequency from the control group. Even when the bipolar and unipolar patients were pooled into a single group, the distributions of both the genotypes and the alleles for the patient group were similar to those for the controls. We conclude that genetic variation that determines high and low activities of COMT does not have a major effect on the vulnerability to affective disorders in our sample.
儿茶酚 - O - 甲基转移酶（COMT）是一种使生物活性或有毒儿茶酚失活的酶。先前的研究在红细胞COMT活性与情感障碍之间的关系上得出了不一致的结果。最近发现COMT蛋白的一个氨基酸变化（Val - 108 - Met）决定了该酶的高活性和低活性等位基因。我们使用聚合酶链反应和限制性内切酶NLaIII，对107例双相情感障碍患者、62例单相抑郁症患者和121名对照进行了基因分型。双相情感障碍患者和单相抑郁症患者在基因型或等位基因频率上与对照组均无显著差异。即使将双相情感障碍患者和单相抑郁症患者合并为一组，患者组的基因型和等位基因分布与对照组相似。我们得出结论，决定COMT高活性和低活性的基因变异对我们样本中情感障碍的易感性没有重大影响。
