Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
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DOI：
10.1038/jhg.2009.140
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发表时间：
2010-03-01
影响因子：
3.5
通讯作者：
Sasaki, Tsukasa
中科院分区：
文献类型：
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作者：
Liu, Xiaoxi;Kawamura, Yoshiya;Sasaki, Tsukasa
位于染色体3p25.3的催产素受体（oxytocin receptor，OXTR）基因是自闭症谱系障碍（autism spectrum disorder，ASD）易感性的候选基因。在早期的研究中已经报道了OXTR和ASD之间的正相关性。然而，结果并不一致，需要进一步研究。在这项研究中，我们调查了OXTR和ASD之间的关联在日本人口分析11个单核苷酸多态性（SNPs）使用基于家庭的关联检验（FBAT）和基于人口的病例对照检验。在FBAT测试中未检测到显著信号。然而，在患者和对照组之间观察到包括rs 2254298在内的四个SNP的等位基因频率存在显著差异。rs 2254298的危险等位基因是“A”，这与中国人的先前研究一致，而与高加索人的观察结果不一致。在以往的研究中，该SNP的风险等位基因的差异可能归因于亚洲人和高加索人之间的连锁不平衡结构的种族差异。此外，单倍型分析显示5个SNP单倍型与ASD（包括rs 22542898）之间存在显著关联。总之，我们的研究可能支持OXTR在日本人群中赋予ASD风险方面具有重要作用。Journal of Human Genetics（2010）55，137-141; doi：10.1038/jhg.2009.140; 2010年1月22日在线发表
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. Journal of Human Genetics (2010) 55, 137-141; doi: 10.1038/jhg.2009.140; published online 22 January 2010