Vaquero Lorenzo Concepcion, Baca-Garcia Enrique, Diaz-Hernandez Montserrat, Botillo-Martin Carlota, Perez-Rodriguez M Mercedes, Fernandez-Ramos Carolina, Saiz-Gonzalez M Dolores, Quintero-Gutierrez Francisco J, Saiz-Ruiz Jeronimo, Fernandez Piqueras Jose, Gonzalez de Rivera Jose Luis, de Leon Jose
Department of Genetics, Autonoma University of Madrid, Edificio de Biología, Facultad de Ciencias, Calle Darwin, 2. 28049, Cantoblanco, Madrid, Spain.
Prog Neuropsychopharmacol Biol Psychiatry. 2006 Aug 30;30(6):1136-8. doi: 10.1016/j.pnpbp.2006.04.027. Epub 2006 Jun 8.
Studies have shown an association between the T102C polymorphism of the 5HT2a receptor gene and schizophrenia. However, negative findings have also been reported. We conducted a case-control study of the T102C polymorphism in Spanish Caucasians. We compared T102C polymorphism genotypes and allele frequencies in 188 schizophrenia patients and 440 healthy controls. There were significant differences in the distribution of the three genotypes (TT, TC and CC) and in the allele frequencies in controls and schizophrenics. The C allele was more frequent in schizophrenia patients than in healthy controls. The Cochrane-Armitage test for trend indicated a significant dosage effect for schizophrenia of the risk allele (C).
研究表明，5HT2a受体基因的T102C多态性与精神分裂症之间存在关联。然而，也有阴性结果的报道。我们对西班牙白种人中的T102C多态性进行了一项病例对照研究。我们比较了188例精神分裂症患者和440名健康对照者的T102C多态性基因型和等位基因频率。在对照组和精神分裂症患者中，三种基因型（TT、TC和CC）的分布以及等位基因频率存在显著差异。精神分裂症患者中C等位基因的频率高于健康对照者。趋势的 Cochr ane-Armitage检验表明，风险等位基因（C）对精神分裂症有显著的剂量效应。
