Hawi Z, Myakishev M V, Straub R E, O'Neill A, Kendler K S, Walsh D, Gill M
Department of Psychiatry, Trinity College, Dublin, Ireland.
Am J Med Genet. 1997 Jul 25;74(4):370-3.
Recent findings of an association between schizophrenia and a T102C polymorphism at the 5-HT2a receptor gene (particularly with genotype 1-2 and 2-2 and allele 2) prompted us to investigate this marker in familial Irish schizophrenic patients, their relatives, and ethnically matched unrelated controls; 247 probands and 249 controls were included in this study. In contrast to some studies, we found no evidence of significant differences either in the frequency of the genotypes 1-2 and 2-2 or allele 2 between the schizophrenic patients and the controls. A transmission disequilibrium test, run on the full set of 265 families yielded no evidence to support linkage disequilibrium. Linkage analysis with both parametric and non-parametric methods yielded strongly negative results. Our findings are consistent with other recent association studies which argue against the involvement of the 5-HT2a/T102C polymorphism in predisposition to schizophrenia. The positive findings reported to date might have occurred by chance or the apparent conflict may be due to genetic heterogeneity between samples.
近期研究发现精神分裂症与5-羟色胺2A受体基因的T102C多态性（特别是基因型1-2和2-2以及等位基因2）之间存在关联，这促使我们对爱尔兰家族性精神分裂症患者、他们的亲属以及种族匹配的非亲属对照进行该标记物的研究；本研究纳入了247名先证者和249名对照。与一些研究不同，我们未发现精神分裂症患者与对照之间在基因型1-2和2-2的频率或等位基因2方面存在显著差异的证据。对265个完整家庭进行的传递不平衡检验未得到支持连锁不平衡的证据。采用参数法和非参数法进行的连锁分析均得出强烈的阴性结果。我们的研究结果与其他近期的关联研究一致，这些研究反对5-羟色胺2A/T102C多态性参与精神分裂症易感性的观点。迄今报道的阳性结果可能是偶然出现的，或者明显的冲突可能是由于样本之间的基因异质性所致。
