Richards Misty, Iijima Yoshimi, Shizuno Tomoko, Kamegaya Yoko, Hori Hiroaki, Omori Mayu, Arima Kunimasa, Saitoh Osamu, Kunugi Hiroshi
Department of Mental Disorder Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.
J Neural Transm (Vienna). 2008 Sep;115(9):1347-54. doi: 10.1007/s00702-008-0100-1. Epub 2008 Aug 12.
Previous studies suggested that genetic variations in the 5' region of Epsin 4, a gene encoding enthoprotin on chromosome 5q33, are associated with schizophrenia. However, conflicting results have also been reported. We examined the possible association in a Japanese sample of 354 patients and 365 controls. Seventeen polymorphisms of Epsin 4 [3 microsatellites and 14 single nucleotide polymorphisms (SNPs)] were selected. A microsatellite marker (D5S1403) demonstrated a significant difference in the allele frequency between patients and controls (uncorrected P = 0.04). However, there was no significant difference in the genotype or allele frequency between the two groups for the other microsatellites or SNPs. Haplotype-based analysis provided no evidence for an association. The positive result at D5S1403 no longer reached statistical significance when multiple testing was taken into consideration. Our results suggest that the examined region of Epsin 4 does not have a major influence on susceptibility to schizophrenia in Japanese.
先前的研究表明，位于5号染色体q33上的编码内吞蛋白的Epsin 4基因5'区域的遗传变异与精神分裂症有关。然而，也有相互矛盾的结果报道。我们在一个由354例患者和365例对照组成的日本样本中检验了可能的关联。选择了Epsin 4的17个多态性位点[3个微卫星和14个单核苷酸多态性（SNP）]。一个微卫星标记（D5S1403）在患者和对照之间的等位基因频率上显示出显著差异（未校正P = 0.04）。然而，对于其他微卫星或SNP，两组之间的基因型或等位基因频率没有显著差异。基于单倍型的分析没有提供关联的证据。考虑到多重检验时，D5S1403的阳性结果不再具有统计学意义。我们的结果表明，在日本人中，Epsin 4的检测区域对精神分裂症易感性没有主要影响。
