Parsian A, Suarez B K, Tabakoff B, Hoffman P, Ovchinnikova L, Fisher L, Cloninger C R
Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
Am J Med Genet. 1995 Oct 9;60(5):409-16. doi: 10.1002/ajmg.1320600511.
Low platelet MAO activity has been associated with alcoholism. In order to evaluate the role of MAO genes in susceptibility to alcoholism, we have taken a biochemical and molecular genetic approach. The sample consisted of 133 alcoholic probands who were classified by subtypes of alcoholism and 92 normal controls. For those subjects typed for platelet MAO activity, alcoholics (N = 74) were found not to differ from the non-alcoholics controls (N = 34). Neither was there a significant difference between type I and type II alcoholics or between either subtype and normal controls. However, we do find significant differences between male and female alcoholics, but not between male and female controls. The allele frequency distribution for the MAO-A and MAO-B dinucleotide repeats is different between the alcoholic sample (N = 133) and the normal control sample (N = 92). In a two-way analysis of variance of MAO-B activity as a function of the allelic variation of each marker locus and diagnosis, there is no evidence for mean differences in activity levels for the different alleles. Our findings do not rule out a role for the MAO-B gene in controlling the enzyme activity because the dinucleotide repeats are located in introns.
低血小板单胺氧化酶(MAO)活性与酒精中毒有关。为了评估MAO基因在酒精中毒易感性中的作用,我们采用了生化和分子遗传学方法。样本包括133名酒精中毒先证者,他们按酒精中毒亚型分类,以及92名正常对照。对于那些检测血小板MAO活性的受试者,发现酒精中毒者(N = 74)与非酒精中毒对照者(N = 34)没有差异。I型和II型酒精中毒者之间或任一亚型与正常对照之间也没有显著差异。然而,我们确实发现男性和女性酒精中毒者之间存在显著差异,但男性和女性对照之间没有。酒精中毒样本(N = 133)和正常对照样本(N = 92)之间MAO - A和MAO - B二核苷酸重复序列的等位基因频率分布不同。在将MAO - B活性作为每个标记位点的等位基因变异和诊断的函数进行的双向方差分析中,没有证据表明不同等位基因的活性水平存在平均差异。我们的发现并不排除MAO - B基因在控制酶活性中的作用,因为二核苷酸重复序列位于内含子中。