PRODH基因rs2058672多态性与精神分裂症的关系

Association between PRODH gene rs2058672 polymorphism and schizophrenia

目的:探讨人类22q11区域内脯氨酸脱氢酶(PRODH)基因单核苷酸多态性(SNP)与精神分裂症的关系。方法:在163个中国北方汉族精神分裂症核心家系(包括患者及其健康父母)中,应用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)方法,检测PRODH基因rs2058672(G/A碱基改变)单核苷酸多态性。结果:rs2058672基因型频率的分布,在精神分裂症患者组及其健康父母组均符合Hardy-Weinberg平衡定律;单倍型相对风险分析(HHRR)显示,在精神分裂症核心家系传递与未传递的等位基因频数分布差异无显著性(2χ=0.197,P>0.05);传递不平衡检验(TDT)显示,杂合子父母传递给患病子女的疾病基因与未传递的对照基因频数分布差异无显著性(2χ=0.163,P>0.05);rs2058672位点等位基因和基因型与精神分裂症的临床症状无关联(P>0.05)。结论:在中国北方汉族人群,PRODH基因rs2058672位点可能不是精神分裂症的易感位点。

Objective To investigate the association between schizophrenia and the proline dehydrogenase （PRODH） gene rs2058672in chromosome 22q11. Methods The PCR-based restriction fragment length polymorphism （RFLP） technique was used to detect the G/A single nucleotide polymorphism （SNP）, rs2058672 locus, at the PRODH gene in 163 Chinese Han family trios consisting of fathers, mothers and affected offsprings with schizophrenia. Results The distribution of genotypic frequency of rs2058672 did not deviate from the Hardy-Weinberg equilibrium; The haplotype-based haplotype relative risk test （HHRR） did not show a significant difference between transmitted and non-transmitted alleles in family trios of schizophrenia patient （X^2 = 0. 197, P〉0.05 ）; transmission disequilibrium test （TDT） did not show significantly biased transmission from parents to affected offspring （Z2= 0. 163, P〉0.05）; there were not correlations between allelic and genotypic frequencies and the clinical symptoms of schizophrenia （P〉0.05）. Conclusion The rs2058672 locus of PRODH gene may not be the susceptible locus of schizophrenia in Chinese Han population.