Mokrović Gordana, Matosić Ana, Hranilović Dubravka, Stefulj Jasminka, Novokmet Mislay, Oresković Darko, Balija Melita, Marusić Srdan, Cicin-Sain Lipa
Department of Molecular Biology, Ruder Bogkovid Institute, Zagreb, Croatia.
Coll Antropol. 2008 Jan;32 Suppl 1:127-31.
Variations in 5HT-related genes contribute to the alterations of serotonergic neurotransmission, which is implicated in the etiopathology of alcoholism. In this preliminary study we have tested polymorphisms of genes involved in 5HT transport and turnover for their association with alcohol dependence. A case group of males with type 2 alcoholism (N=59) and a control group of healthy males (N=282), both of Croatian origin, were analyzed for the frequency distribution of polymorphisms in 5HT transporter (5HTT-VNTR2, 5HTT-LPR), monoamine oxidase A (MAOA-uVNTR) and B (MAOB-A/G) and tryptophan hydroxylase 1 (TPH1 A218C) and 2 (TPH2 G-703T) genes. An increase in the frequencies of 10-repeat allele (p = 0.010; OR = 1.73; 95% CI = 1.14-2.60) and 10/10 genotype (p = 0.006; OR = 2.57; 95% CI = 1.32-5.00) of the 5HTT-VNTR2 polymorphism was found in alcoholic patients. No differences between case and control groups were observed for the other tested polymorphisms. Present results support earlier studies implicating the role of 5HTT gene in alcoholism. The increase of sample size (in progress) is expected to enable search of more subtle differences, as well as re-evaluation of these preliminary findings.
5-羟色胺（5HT）相关基因的变异会导致血清素能神经传递的改变，这与酒精中毒的病因学有关。在这项初步研究中，我们检测了参与5HT转运和代谢的基因多态性与酒精依赖之间的关联。对一组克罗地亚裔的2型酒精中毒男性病例组（N = 59）和一组健康男性对照组（N = 282）进行分析，以确定5HT转运体（5HTT-VNTR2、5HTT-LPR）、单胺氧化酶A（MAOA-uVNTR）和B（MAOB-A/G）以及色氨酸羟化酶1（TPH1 A218C）和2（TPH2 G-703T）基因多态性的频率分布。在酒精中毒患者中发现5HTT-VNTR2多态性的10重复等位基因频率增加（p = 0.010；OR = 1.73；95% CI = 1.14 - 2.60）以及10/10基因型频率增加（p = 0.006；OR = 2.57；95% CI = 1.32 - 5.00）。对于其他检测的多态性，病例组和对照组之间未观察到差异。目前的结果支持了早期关于5HTT基因在酒精中毒中作用的研究。预计样本量的增加（正在进行中）将有助于发现更细微的差异，并对这些初步发现进行重新评估。
