摘要目的 探讨1号染色体碳酸酐酶Ⅰ (CA1)、前咽缺陷1同族体A(APH1A)基因和17号染色体神经发育蛋白(NDEL1),丝氨酸消旋酶(SRR)基因单核甘酸多态性与精神分裂症的关联性.方法 纳入2011-2014年在新乡医学院第二附属医院住院的516例偏执型精神分裂症患者和516名通过招募,来自新乡市区及附近的健康对照志愿者,采用荧光定量聚合酶链反应方法鉴定CA1、APH1A、NDEL1和SRR基因的5个SNP位点基因型,分析基因型与疾病的关联性以及阳性和阴性症状量表因子分与基因多态性的关联.结果 CA1、APH1A、NDEL1和SRR基因5个单核甘酸多态性位点基因型和等位基因频率在精神分裂症组和健康对照组中差异无统计学意义(分别P=0.163、0.322、0.494、0.338和0.545;等位基因0.259、0.149、0.417、0.527和0.720);精神分裂症组SRR基因rs4523957与rs80812组成CA单体型频率高于健康对照组(P =0.041).有三个位点基因型[rs2298161 (AG),rs4523957 (CC)和rs8081273 (GG)]的患者抑郁/焦虑因子,阳性因子和兴奋/敌对因子分高于其他两种基因型(分别P =0.008、0.001和0.000).结论 CA1、APH1A、NDEL1和SRR基因可能不是精神分裂症的易感基因,但CA单体型可能是精神分裂症的易感因素;rs2298161,rs4523957和rs8081273可能与精神分裂症的部分表型相关.

abstractsObjective To investigate the potential association of carbonic anhydrase Ⅰ (CA1),anterior pharynx-defective 1A (APH1 A),neurodevelopment protein 1-like 1 (NDEL1) and serine racemase (SRR) gene polymorphisms with the susceptibility of schizophrenia (SZ).Methods A case-control study was performed to identify polymorphisms of the CA1,APH1A,NDEL1 and SRR gene that may confer susceptibility to SZ in the Han Chinese population.Five single nucleotide polymorphisms (SNPs) were genotyped in 516 paranoid SZ patients and 516 control subjects by real time quantitative polymerase chain reaction.The association between genotypes and positive and negative symptoms scale was also explored.Results No significant differences in genotype or allele frequencies of five SNPs were observed between schizophrenic patients and healthy controls (P =0.163,0.322,0.494,0.338,0.545;0.259,0.149,0.417,0.527,0.720;respectively).However,the frequency of CA haplotypes in SZ group was higher than control group (P =0.041).The scores of depression/anxiety,positive and excited/hostile factors in SZ patients with genotype of rs2298161 (AG),rs4523957 (CC) and rs8081273 (GG) were higher than other genotypes (P =0.008,0.001,0.000,respectively).Conclusions These data suggests that the CA1,APH1A,NDEL1 and SRR gene may not be association with susceptibility to SZ in the Han Chinese population.However,the haplotype of CA may be the susceptible factor of SZ.Rs2298161,rs4523957 and rs8081273 may be associated with some phenotypes of SZ.