Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia.
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DOI：
10.1186/1471-244x-4-21
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发表时间：
2004-08-06
期刊：
影响因子：
4.4
通讯作者：
Fukumaki Y
中科院分区：
文献类型：
--
作者：
Deng X;Shibata H;Ninomiya H;Tashiro N;Iwata N;Ozaki N;Fukumaki Y
精神分裂症的代谢能功能障碍假说表明，参与代谢能传递的基因是精神分裂症易感基因的候选者。我们一直在进行谷氨酸受体和转运蛋白基因与精神分裂症的系统关联研究。在这项研究中，我们报告了兴奋性氨基酸转运蛋白2基因，SLC 1A 2与精神分裂症的关联研究。我们使用直接测序和焦磷酸测序方法对从九州地区招募的100名日本精神分裂症患者和100名对照进行了分布在SLC 1A 2区域的11个单核苷酸多态性（SNP）标记的基因分型，并检查了等位基因，基因型和单体型与精神分裂症的关联。使用100名日本精神分裂症患者和100名来自爱知地区的对照进行了检查。我们发现病例组和对照组之间的SNP 2基因型和等位基因频率有显著性差异（P = 0.013和0.008）。Bonferroni校正后，两个显著差异消失。我们测试了所有可能的SNP对组合的单倍型关联。在8个组合中，SNP 2单倍型与该病有显著相关性（P = 9.4 × 10-5，经Bonferroni校正P = 0.0052）。此外，SNP 2-SNP 7的显著单倍型关联在我们的两个样本集的累积分析中被复制。我们的结论是，至少有一个精神分裂症的易感基因座可能位于或附近的SLC 1A 2在日本人口。
The glutamatergic dysfunction hypothesis of schizophrenia suggests that genes involved in glutametergic transmission are candidates for schizophrenic susceptibility genes. We have been performing systematic association studies of schizophrenia with the glutamate receptor and transporter genes. In this study we report an association study of the excitatory amino acid transporter 2 gene, SLC1A2 with schizophrenia. We genotyped 100 Japanese schizophrenics and 100 controls recruited from the Kyushu area for 11 single nucleotide polymorphism (SNP) markers distributed in the SLC1A2 region using the direct sequencing and pyrosequencing methods, and examined allele, genotype and haplotype association with schizophrenia.The positive finding observed in the Kyushu samples was re-examined using 100 Japanese schizophrenics and 100 controls recruited from the Aichi area. We found significant differences in genotype and allele frequencies of SNP2 between cases and controls (P = 0.013 and 0.008, respectively). After Bonferroni corrections, the two significant differences disappeared. We tested haplotype associations for all possible combinations of SNP pairs. SNP2 showed significant haplotype associations with the disease (P = 9.4 × 10-5, P = 0.0052 with Bonferroni correction, at the lowest) in 8 combinations. Moreover, the significant haplotype association of SNP2-SNP7 was replicated in the cumulative analysis of our two sample sets. We concluded that at least one susceptibility locus for schizophrenia is probably located within or nearby SLC1A2 in the Japanese population.