中文摘要：

目的 探讨位于锌指蛋白804A（zinc finger protein 804A,ZNF804A）内含子2区的多态性位点rs 1344706与双相障碍及其亚型的关系.方法 收集2006年11月至2014年8月在上海交通大学医学院附属精神卫生中心心境障碍科就诊的双相障碍患者746例（患者组）,根据DSM-Ⅳ中双相障碍诊断亚型分类,其中双相Ⅰ型患者304例（双相Ⅰ型组）,双相Ⅱ型患者442例（双相Ⅱ型组）.采集所有双相障碍患者和762名健康对照者（对照组）的外周血并提取DNA,使用SNaPshot SNP基因分型技术对其rs1344706位点进行分型.结果 患者组与对照组的rs1344706位点基因型[TT：210（28.2％）与175（23.0％）,TG：378 （50.7％）与399 （52.4％）,GG：158（21.2％）与188 （24.7％）]及等位基因[T：798（53.5％）与749（49.1％）,G：694（46.5％）与775（50.9％）]分布频率的差异均有统计学意义（x2=6.18,p=0.04;x2=5.68,P=0.017）,患者组携带T等位基因的频率高于对照组（OR=1.19,95％CI1.03～1.37）.双相Ⅰ型组与对照组的rs 1344706位点基因型及等位基因分布频率差异均有统计学意义（x2=7.57,p=0.02;x2=7.22,P=0.007）,双相Ⅰ型组携带T等位基因的频率显著高于对照组（OR=1.30,95％CI1.07～1.56）.双相Ⅱ型组与对照组相比,基因型及等位基因分布频率差异均无统计学意义.结论 rs1344706位点多态性与中国汉族双相Ⅰ型存在关联.ZNF804A基因可能是中国汉族双相Ⅰ型发生的易患基因.

英文摘要：

Objective To investigate the potential association between zinc finger protein 804A （ZNF804A） rs1344706 polymorphism and bipolar disorder as well as its subtypes.Methods A total of 304 bipolar Ⅰ disorder,442 bipolar Ⅱ disorder and 762 healthy controls subjects were recruited from Division of Mood Disorders,Shanghai Mental Health Center,Shanghai Jiao Tong University School of Medicine,from November 2006 to August 2014.Rs1344706 was genotyped by SNaPshot genotyping assay.Results In comparison between the patients with bipolar disorder and controls,there were significant differences in the genotypic （TT：210（28.2%） vs.175（23.0%）,TG：378（50.7%） vs.399（52.4%）,GG：158 （21.2%） vs.188（24.7%）） and allelic （T：798（53.5%） vs.749（49.1%）,G：694（46.5%） vs.775（50.9%）） distributions （x2=6.18,P=0.04,x2=5.68,P=0.017,respectively）.The frequency of T allele in patients with bipolar disorder was higher than that in controls （OR=1.19,95%CI 1.03-1.37）.After stratified by diagnosed subtypes,there were significant differences in the genotypic and allelic distribution between patients with bipolar Ⅰ disorder and controls （x2=7.57,P=0.02,x2=7.22,P=0.007）.The frequency of T allele in patients with bipolar Ⅰ disorder was higher than those in controls （OR=1.30,95% CI 1.07-1.56）.In comparison between patients with bipolar Ⅱ disorder and controls,there was no significant difference in the distributions of genotype and allele.Conclusion There is positive association between rs1344706 polymorphism and bipolar Ⅰ disorder in a Chinese Han population.ZNF804A gene may confer susceptibility to bipolar Ⅰ disorder in Han Chinese.