Tang R Q, Zhao X Z, Shi Y Y, Tang W, Gu N F, Feng G Y, Xing Y L, Zhu S M, Sang H, Liang P J, He L
Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, China.
Mol Psychiatry. 2006 Apr;11(4):395-9. doi: 10.1038/sj.mp.4001780.
Recently, Pimm et al. identified Epsin 4 on chromosome 5q33 as a susceptibility gene for schizophrenia in the British population, based on linkage and association evidence. In Pimm's case-control study, both the single polymorphisms and the individual haplotypes at the 5' end of the gene showed genetic association with schizophrenia. Here, we report the first study evaluating the relevance of Epsin 4 and schizophrenia outside the British population. Markers showing positive results in the original work as well as two additional polymorphisms were genotyped in 308 Han Chinese family trios. Transmission disequilibrium analysis was used to test for association of single-locus markers and multi-locus haplotypes with schizophrenia. Although no individual marker was significant at the P=0.05 level, the haplotypes detected in our samples, different from those previously reported, showed strong evidence of association (most significant global P=0.0021). Our results indicate the presence of a locus near the 5' end of Epsin 4 conferring susceptibility to the disease and provide further support for Epsin 4 as an important potential contributor to genetic risk in schizophrenia.
最近，皮姆等人基于连锁和关联证据，将5号染色体5q33上的Epsin 4鉴定为英国人群中精神分裂症的一个易感基因。在皮姆的病例对照研究中，该基因5'端的单核苷酸多态性和单个单倍型均显示出与精神分裂症的遗传关联。在此，我们报告了第一项评估英国人群以外Epsin 4与精神分裂症相关性的研究。在308个汉族家系三联体中对在原始研究中显示阳性结果的标记以及另外两个多态性进行了基因分型。采用传递不平衡分析来检测单基因座标记和多基因座单倍型与精神分裂症的关联。尽管在P = 0.05水平上没有单个标记具有显著性，但我们样本中检测到的单倍型与先前报道的不同，显示出很强的关联证据（最显著的总体P = 0.0021）。我们的结果表明在Epsin 4的5'端附近存在一个导致该疾病易感性的基因座，并为Epsin 4作为精神分裂症遗传风险的重要潜在因素提供了进一步支持。
