中国汉族抽动秽语综合征患者中BTBD9和HTR2C基因变异分析

Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome.

作者信息

Guo Yi, Su Linyan, Zhang Jie, Lei Jing, Deng Xiong, Xu Hongbo, Yang Zuocheng, Kuang Shoujin, Tang Jinsong, Luo Ziqiang, Deng Hao

机构信息

Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.

出版信息

Psychiatr Genet. 2012 Dec;22(6):300-3. doi: 10.1097/YPG.0b013e32835862b1.

DOI:10.1097/YPG.0b013e32835862b1

PMID:22914617

Abstract

Variants of the BTB/POZ domain-containing protein 9 gene (BTBD9) (rs4714156, rs9357271, and rs9296249) and the serotonin 5-HT-2C receptor gene (HTR2C) (rs518147 and rs3813929) were reported to be associated with Tourette syndrome (TS) in White population recently. To examine the association between variants of the BTBD9 and the HTR2C genes and patients with TS among a Chinese Han population, 110 patients with TS and 440 sex-matched, age-matched, and ethnicity-matched healthy controls underwent sequencing and association analysis. There was a statistically significant association between the variant rs9296249 of the BTBD9 gene and the TS phenotype. However, no statistically significant associations were found between the other four variants (rs4714156, rs9357271, rs518147, and rs3813929) and the TS phenotype (P>0.05). Larger-scale studies are warranted to further define the relationship between variant rs9296249 of the BTBD9 gene and the risk of developing TS.

摘要

近期有报道称，含BTB/POZ结构域蛋白9基因（BTBD9）的变体（rs4714156、rs9357271和rs9296249）以及血清素5-HT-2C受体基因（HTR2C）的变体（rs518147和rs3813929）与白种人群中的妥瑞氏症（TS）相关。为了研究中国汉族人群中BTBD9和HTR2C基因变体与TS患者之间的关联，对110例TS患者以及440例性别匹配、年龄匹配和种族匹配的健康对照进行了测序和关联分析。BTBD9基因的rs9296249变体与TS表型之间存在统计学上的显著关联。然而，在其他四个变体（rs4714156、rs9357271、rs518147和rs3813929）与TS表型之间未发现统计学上的显著关联（P>0.05）。有必要开展更大规模的研究，以进一步明确BTBD9基因的rs9296249变体与发生TS风险之间的关系。