Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
J Hum Genet. 2010 Mar;55(3):137-41. doi: 10.1038/jhg.2009.140. Epub 2010 Jan 22.
The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both family-based association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.
催产素受体（OXTR）基因位于 3p25.3 染色体上，被认为是自闭症谱系障碍（ASD）易感性的候选基因。早期研究报道了 OXTR 与 ASD 之间存在正相关。然而，结果不一致，需要进一步研究。在这项研究中，我们通过分析 11 个单核苷酸多态性（SNP），使用基于家系的关联测试（FBAT）和基于人群的病例对照测试，研究了 OXTR 与 ASD 之间在日本人群中的关联。FBAT 测试未检测到显著信号。然而，在四个 SNP（包括 rs2254298）的等位基因频率方面观察到了显著差异，包括患者和对照组之间的 rs2254298。rs2254298 的风险等位基因是 'A'，这与中国的先前研究一致，与白种人的观察结果不一致。该 SNP 在前瞻性研究中的风险等位基因差异可能归因于亚洲人和白种人之间连锁不平衡结构的种族差异。此外，单倍型分析显示 rs22542898 在内的五个 SNP 单倍型与 ASD 之间存在显著关联。总之，我们的研究可能支持 OXTR 在日本人群中对 ASD 风险具有重要作用。
