HTR2A基因多态性与精神分裂症的关系

目的：探讨5-羟色胺2A（HTR2A）基因多态性与精神分裂症的关系。方法：在54个汉族精神分裂症核心家系中，以PCR和限制性片段长度多态性（RFLP）方法对HTR2A基因编码区序列第102碱基（rs6313位点）单核苷酸多态性（SNP）进行检测。结果：HTR2A基因的rs6313位点基因型频率分布符合Hardy-Weinberg平衡；单倍型相对风险分析(HRR)表明，HTR2A基因rs6313位点与精神分裂症无关联（χ²=1.852, df=1,P=0.174）；传递不平衡检验（TDT）显示，健康的杂合子父母及其患精神分裂症子女之间不存在显著的传递不平衡（χ²=1.786，df=1, P=0.181），即杂合子父母传递给患病子女的等位基因无差异；HTR2A 基因的rs6313位点等位基因频率与精神分裂症的怪异行为（χ²=5.576，df=1,P=0.018）和意志贫乏（χ²=8.322, df=2, P=0.016）两种临床症状相关。结论：HTR2A基因的rs6313位点多态性可能与精神分裂症无关，但不能排除该位点与精神分裂症临床症状相关联。

Association between HTR2A gene polymorphism and schizophrenia

Objective To investigate the association between schizophrenia and the polymorphism of(5-hydroxytryptamine) receptor 2A(HTR2A) gene.Methods The PCR-based restriction fragment length polymorphism(RFLP) technique was used to detect a single nucleotide polymorphism(SNP),rs6313 locus,at the HTR2A gene in 54 Chinese Han family trios.Results The genotypic distribution of HTR2A was not deviated from the Hardy-Weinberg equilibrium;the haplotype relative risk test(HRR) did not show a genetic association between HTR2A and schizophrenia(χ~2=1.852, df=1,P=0.174);transmission disequilibrium test(TDT) did not show significantly biased transmission from parents to affected offsprings(χ~2=1.786,df=1,P=0.181);there were correlations between allele frequencies and two clinical symptoms of schizophrenia,bizarre behaviors(χ~2=5.576,(df=1,) P=0.018) and abulia(χ~2=8.322,df=2,P=0.016).Conclusion The polymorphism of rs6313 locus of HTR2A gene may not be associated with schizophrenia although it may be associated with certain psychotic symptoms.