目的探讨锚蛋白重复序列3(Ankyrin repeat3,ANK3)基因在早发性精神分裂症发生过程中的作用。方法采用TaqMan探针等位基因分型技术检测310例早发性精神分裂症患者和399例健康对照ANK3基因rs10761482位点多态性,分析该位点与早发性精神分裂症的关联及其与发病年龄的关系,并调查患者母亲怀孕早期的环境因素,进一步分析ANK3基因与环境因素的交互作用。结果患者组与对照组ANK3基因rs10761482位点的基因型频率组间差异无统计学意义(χ^2=5.410,P=O.067),而患者组rs10761482C等位基因频率高于对照组,有统计学意义(83.06%vs.78.07%,P=0.019);携带rs10761482C等位基因患者发病年龄(13.7±0.1岁)明显早于不携带C等位基因患者发病年龄(16.1±0.3岁)(P=0.028);未发现ANK3基因与环境因素间之间存在交互作用(P〉0.05)。结论ANK3基因与早发性精神分裂症存在关联,其rs10761482多态位点可能是导致患者发病年龄提前的重要因素。
Objective To investigate the association of ANK3 (Ankyrin repeat 3) gene polymorphism with the development of early-onset schizophrenia. Methods A single nucleotide polymorphism (rs10761482) of ankyrin repeat 3 (ANK3) gene was genotyped in 310 early-onset schizophrenic patients and 399 healthy controls, using TaqMan SNP Genotyping Assays. The association of the locus with early-onset schizophrenia and age of onset was analyzed. The prenatal information of the patients was collected to detect the interaction between the ANK3 gene and environmental factors. Results There was no statistically significant difference in genotype distribution of the rs10761482 locus between pa- tients and controls (χ^2 = 5.410, P = 0.067). The frequency of the C allele of this locus was significantly higher in patients than in controls (83.06% vs 78.07%, P = 0.019); The C allele was highly associated with an earlier age of onset compared with non-e allele (13.7±0.1 years vs 16.1±0.3 years, P = 0.028). There was no interaction between the ANK3 gene and environmental factors (P 〉 0.05). Conclusions ANK3 gene is associated with early-onset schizophrenia and rs10761482 may play an important role in age of onset of schizophrenia.