酸性神经酰胺酶基因与精神分裂症症状数量性状的关联研究

目的 探讨酸性神经酰胺酶基因(ASAH1)与精神分裂症症状数量性状的关联.方法 应用聚合酶链反应及限制性片段长度多态性技术,对254例精神分裂症患者ASAH1基因的3个单核苷酸多态性(rs3753118、rs3753116及rs7830490)进行检测;使用阳性和阴性症状量表(PANSS)评定患者疾病表型的数量性状.结果 (1)患者rs3753118位点3种基因型间的阳性症状分的差异有统计学意义(F=3.506,P＜0.05);rs3753116位点3种基因型间的PANSS总分及阴性症状分的差异均有统计学意义(F=3.548,P＜0.05;F=3.358,P＜0.05).经两两比较,rs3753118位点C/C基因型组患者的阳性症状分及一般精神病理分明显高于C/T基因型组患者;rs3753116位点G/G基因型组患者的PANSS总分及阴性症状分明显高于A/G基因型组患者,且G/G基因型组患者的阴性症状分明显高于A/A基因型组患者,差异均有统计学意义(P均＜0.05).(2)患者3个位点各等位基因间的PANSS量表评分的差异无统计学意义(P＞0.05).(3)患者rs3753118C-rs3753116G单体型者及rs3753118C-rs3753116G-rs7830490A单体型者,其PANSS总分及阴性症状分均明显高于参照单体型者,差异均有统计学意义(P均＜0.05).结论 ASAH1基因区域可能存在精神分裂症症状数量性状位点.

Association analysis between N-acylsphingosine amidohydrolase gene and symptom quantitative trait of schizophrenia in Chinese Han population

Objective To explore the association between N-acylsphingosine amidohydrolase(ASAHl)gene and symptom quantitative trait of schizophrenia in Chinese Han Population.Methods Three polymorphic markers(rs3753118,rs3753116 and rs7830490)in ASAH1 gene were genotyped with polymerase chain reaction and restriction fragment length polymorphism in 254 schizophrenic patients.The Positive and Negative Syndrome Scale (PANSS) was used to quantify the phenotypes of schizophrenia.Results (1)There were significant difierence in the positive subseale score among patients with different genotypes of rs3753118(F=3.506,P<0.05),and the PANSS total score and negative subscale score were significant different among patients with different genotypes of rs3753116(F=3.548,P<0.05;F=3.358,P<0.05).Patients with the rs3753118 C/C genotype had a higher positive subseale score and general pathology score(P<0.05)than ones with C/T genotype.The PANSS total score and negative score was higher in patients with rs3753116 G/G genotype than that with A/G genotype,and the negative score was higher in patients with rs3753116 G/G genotype than that with A/A genotype (P<0.05).(2)There were no significant differences of the PANSS score among patients with different alleles (P>0.05).(3)The PANSS total score and the negative score in patients with rs3753118C-rs3753116G haplotype,and in ones with rs3753118C-rs3753116G-rs7830490A haplotype were higller than that in ones with reference haplotype(P<0.05).Conclusion The ASAH1 gene might be associated with symptom quantitative trait in schizophrenia.