磷酸丝氨酸氨基转移酶1基因多态性与精神分裂症的关联研究

目的 探讨磷酸丝氨酸氨基转移酶1( PSAT1)基因多态性与精神分裂症的关联性.方法 收集西安市精神卫生中心精神分裂症患者158例作为研究组,其生物学父母316例作为对照组.运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对PSAT1基因的rs69287125、rs137824326多态性分型,进行精神分裂症与磷酸丝氨酸氨基转移酶l基因多态性的关联分析和单体型相对风险率分析.结果 rs69287125等位基因与精神分裂症相关联(P=0.011),其中等位基因G是保护因素(Z=-2.31),A为危险因素(Z =2.31)；rs137824326等位基因与精神分裂症相关联(P=0.007),其中等位基因G是保护因素(Z=-2.54),A为危险因素(Z=2.54).rs69287125-rs137824326单体型的A/A、G/G与精神分裂症有关联(P=0.021,0.015,Z=2.16,- 1.85).结论 PSAT1基因与精神分裂症相关联.

Association study between schizophrenia and polymorphism of phosphoserine aminotransferase 1gene

Objective To detect the association between schizophrenia and polymorphism of phosphoserine aminotransferase 1 ( PSAT1 ) gene.Methods The study group included 158 patients with schizophrenia from Xi' an Mental Health Center and the control group included 316 parents.The polymorphism of rs69287125,rs137824326 of phosphoserine aminotransferase 1 gene was detected with PCR methods and SNP typing in all nucleus families by correlation analysis and haplotype relative risk analysis.Results The rs69287125 allele was associated with schizophrenia (P=0.011 ),the G allele was protective factor (Z =-2.31 ) and the A allele was hazarding factor (Z =2.31 ).The rs137824326 allele was associated with schizophrenia (P=0.007 ),the G allele was protective factor ( Z =- 2.54) and the A allele was the hazarding factor( Z =2.54).The haplotypes of A/A and G/G in the rs69287125-rs137824326 were associated with schizophrenia (P =0.021,0.015,Z =2.16,- 1.85).Conclusion The polymorphism of phosphoserine aminotransferase 1 gene is associated with schizophrenia in Chinese.