A genome-wide association study of schizophrenia using DNA microsatellite markers on chromosomes 5 and 6

作为全基因组关联研究的第一步，我们通过病例对照设计寻找精神分裂症与5号和6号染色体上的40个微卫星标记之间的关联。研究样本是124名精神分裂症患者和154名日本人的对照。18个基因座在日本和法国人群中的等位基因分布存在显著差异。在对照组中，D5S400、D6S426、D6S434和D6S305位点显著偏离Hardy-Weinberg平衡。病例对照比较发现D6S287的等位基因频率存在显著差异。此外，我们还对D6S287附近的D6S1696基因座进行了检测，样本包括164名精神分裂症患者和156名对照组，并在病例对照比较中观察到显著的趋势水平。该基因座位于MAN_9-甘露糖苷酶基因附近。提示MAN_9-甘露糖苷酶基因可能是精神分裂症发病过程中的一个重要候选基因。

As an initial step for genome-wide assoication studies, we sought an association between schizophrenia and 40 microsatellite markers on chromosomes 5 and 6 by a case-control design. The samples examined for an association were 124 schizophrenic patients and 154 controls in the Japanese population. The allele distribution of the 18 loci differed significantly between Japanese and French populations. Significant deviation from the Hardy-Weinberg equilibrium was observed at D5S400, D6S426, D6S434 and D6S305 in the control subjects. Case-control comparisons of the initial screening revealed significant difference in allele frequency at D6S287. We additionally examined the D6S1696 locus located close to the D6S287 using sample consisted of 164 schizophrenic patients and 156 controls and observed significant trend level in the case control comparison. This locus is located close to the Man_9-mannosidase gene. The present results suggest that Man_9-mannosidase gene could be an important candidate gene involved in the development of schizophrenia.