在中国人群中，未发现ADRA1A启动子变异与精神分裂症之间存在关联。
No association found between the promoter variants of ADRA1A and schizophrenia in the Chinese population.
作者信息
Huang Ke, Shi Yongyong, Tang Wei, Tang Ruqi, Guo Shengzhen, Xu Yifeng, Meng Junwei, Li Xingwang, Feng Guoying, He Lin
机构信息
Bio-X Life Science Research Center, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, PR China.
出版信息
J Psychiatr Res. 2008 Apr;42(5):384-8. doi: 10.1016/j.jpsychires.2007.02.008. Epub 2007 Apr 3.
Schizophrenia is a chronic psychiatry disorder with a strong genetic component. A recent association study of alpha(1A)-adrenoceptor gene (ADRA1A) involving an isolated Spanish population, focusing on the promoter region of the ADRA1A, genotyped eight single SNPs at the promoter region of ADRA1A and found that two SNPs, -563G/A and -9625G/A, were associated with schizophrenia and schizoaffective disorders. We were interested in the two positive sites reported and selected five variants among the promoter region of ADRA1A, namely -563G/A, -9625G/A, -2760C/A, -4155G/C and a new substitution we detected between -508bp and -530bp upstream of the translation initiation site. Our sample consisted of 480 schizophrenia and 480 control subjects. All recruits were Han Chinese in Shanghai origin. However, neither individual SNP nor any haplotype was associated with schizophrenia in our study. These results suggest that the variants among the promoter of ADRA1A gene are unlikely to play a major role in the susceptibility to schizophrenia in the Chinese population.
精神分裂症是一种具有很强遗传成分的慢性精神疾病。最近一项针对西班牙孤立人群的α(1A)-肾上腺素能受体基因（ADRA1A）关联研究，聚焦于ADRA1A的启动子区域，对ADRA1A启动子区域的8个单核苷酸多态性（SNP）进行了基因分型，发现两个SNP，即-563G/A和-9625G/A，与精神分裂症和分裂情感性障碍相关。我们对报道的这两个阳性位点感兴趣，并在ADRA1A启动子区域选择了5个变异体，即-563G/A、-9625G/A、-2760C/A、-4155G/C以及我们在翻译起始位点上游-508bp至-530bp之间检测到的一个新的替换位点。我们的样本包括480名精神分裂症患者和480名对照受试者。所有招募对象均为上海籍贯的汉族人。然而，在我们的研究中，单个SNP或任何单倍型均与精神分裂症无关。这些结果表明，ADRA1A基因启动子区域的变异体不太可能在中国人群精神分裂症易感性中起主要作用。
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