PTGER3基因多态性与精神分裂症的关系

Association between PTGER3 gene polymorphism and schizophrenia

目的:探讨在中国北方汉族人群中PTGER3基因rs12026099、rs2250312和rs1022528基因多态性与精神分裂症的关系。方法:采用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)的方法,检测中国北方汉族240个由精神分裂症患者及其健康父母组成的核心家系的基因型,应用遗传统计学方法进行单倍型相对风险分析(HRR)、传递不平衡检验(TDT)、单倍型分析和临床症状关联分析。结果:患者组和父母组PTGER3基因的rs12026099、rs2250312和rs1022528基因型频数分布均符合Hardy-Weinberg平衡定律(P>0.05);HRR分析结果显示,父母传递和未传递给患病子女的3个位点的等位基因频数分布差异均无显著性(χ2=1.396,P>0.05;χ2=0.042,P>0.05;χ2=0.119,P>0.05);TDT分析结果显示,杂合子父母双亲的3个位点的不同等位基因传递概率均未偏离50%(χ2=1.380,P>0.05;χ2=0.043,P>0.05;χ2=0.126,P>0.05);单倍型分析结果显示,rs2250312和rs1022528位点等位基因位于同一单倍型域结构内,但两位点所形成的单倍型与精神分裂症无关联(χ2=6.500,P>0.05);单核苷酸多态性(SNPs)位点与精神分裂症临床症状的关联性χ2检验结果显示,rs12026099位点与精神分裂症的情感淡漠和偏执型精神分裂症的思维逻辑障碍有关联(χ2=4.578,P=0.032;χ2=6.100,P=0.047),rs2250312位点与偏执型精神分裂症的思维逻辑障碍和意志贫乏有关联(χ2=4.471,P=0.034;χ2=4.206,P=0.040),rs1022528位点与偏执型精神分裂症的思维逻辑障碍有关联(χ2=4.108,P=0.043)。结论:在中国北方汉族人群中PTGER3基因上的rs12026099、rs2250312和rs1022528位点可能与精神分裂症的发病无关联,而与精神分裂症的临床症状有关联。

Objective To investigate the genetic association between the polymorphism of rs12026099 site,rs2250312 site and rs1022528 site on PTGER3 gene and schizophrenia in Han population from the north of China.Methods PCR-RFLP analysis was employed to detect the genotype of PTGER3 gene in 240 family trios consisting of fathers,mothers and affected offsprings with schizophrenia.Haplotype relative risk （HRR） analysis,transmission disequilibrium test （TDT）,Haplotype analysis and association between SNPs and clinical symptoms analysis were used to analysis the genotype data.Results The genotypic frequency of the PTGER3 gene did not deviate from Hardy-Weinberg equilibrium in both patient group and parent group （P〉0.05）;HRR analysis did not show allelic association with the PTGER3 gene （χ2= 1.396,P〉0.05;χ2= 0.042,P〉0.05;χ2= 0.119,P〉0.05）;TDT analysis did not show preferential transmission of the two alleles （χ2= 1.380,P〉0.05;χ2= 0.043,P〉0.05;χ2= 0.126,P〉0.05）;Haplotype analysis showed that the two SNPs were in one haplotype block,but the haplotype was not associated with schizophrenia（χ2=6.500,P〉0.05）;χ2 test for association between SNPs and clinical symptoms of schizophrenia showed that rs12026099 locus was associated with apathy of schizophrenia and illogic thought of paranoid type schizophrenia （χ2=4.578,P=0.032;χ2=6.100,P=0.047）,rs2250312 locus was associated with illogic thought and abulia of paranoid type schizophrenia （χ2=4.471,P=0.034;χ2=4.206,P=0.040）,rs1022528 locus was associated with illogic thought of paranoid type schizophrenia （χ2=4.108,P=0.043）. Conclusion rs12026099 locus,rs2250312 locus and rs1022528 locus on PTGER3 gene are not associated with schizophrenia,but associated with clinical symptoms of schizophrenia in Han population from the north of China.