Jönsson E G, Geijer T, Gyllander A, Terenius L, Sedvall G C
Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
Eur Arch Psychiatry Clin Neurosci. 1998;248(2):61-3. doi: 10.1007/s004060050018.
An association between schizophrenia and a rare perfect ten-repeat allele, K1p, of a tetranucleotide microsatellite polymorphism in the tyrosine hydroxylase gene has recently been reported. The rare allele was found only in schizophrenic patients. During treatment with antipsychotic drugs patients with the rare allele displayed lower plasma homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylglycol (MHPG) levels than those without. We examined Swedish schizophrenic patients (n = 117) and healthy control subjects (n = 76) for the same polymorphism. In contrast to the previous studies, the K1p frequency in patients (4 of 117) tended to be lower than among controls (9 of 76). With all six alleles (K1p, K1i, K2-5) considered there was a significant difference between schizophrenic patients and control subjects. There was no significant difference in HVA and MHPG levels in cerebrospinal fluid from a subset (n = 64) of control subjects with and without the rare allele. The discrepant results warrant further investigation of the tyrosine hydroxylase gene.
最近有报道称，精神分裂症与酪氨酸羟化酶基因中一种罕见的四核苷酸微卫星多态性的完美十重复等位基因K1p之间存在关联。这种罕见等位基因仅在精神分裂症患者中发现。在使用抗精神病药物治疗期间，携带该罕见等位基因的患者血浆高香草酸（HVA）和3-甲氧基-4-羟基苯乙二醇（MHPG）水平低于未携带该等位基因的患者。我们对瑞典的精神分裂症患者（n = 117）和健康对照者（n = 76）进行了相同多态性的检测。与之前的研究相反，患者中K1p频率（117例中有4例）往往低于对照组（76例中有9例）。考虑所有六个等位基因（K1p、K1i、K2 - 5）时，精神分裂症患者与对照者之间存在显著差异。在一组有或无该罕见等位基因的对照者（n = 64）的脑脊液中，HVA和MHPG水平无显著差异。这些不一致的结果值得对酪氨酸羟化酶基因进行进一步研究。
