汉族人群PIP3-E基因多态性与精神分裂症关系

目的探讨中国北方汉族人群PIP3-E基因多态性与精神分裂症的关系。方法采用PCR和限制性内切酶片段长度多态性（RFLP）方法，在102个精神分裂症患者核心家系中检测PIP3-E基因上的4个单核苷酸多态性（SNPs），对结果进行传递不平衡检验（TDT）和单倍体相对风险（HRR）分析，并进行SNP与临床症状的关联性分析。结果PIP3-E基因上的4个SNP基因型在患者组和父母组的频数分布均符合Hardy-Weinberg平衡；TDT分析结果表明，杂合子父母双亲传递给患病子女的不同等位基因均未偏离50％（P〉0．05）；HRR分析结果表明，各位点等位基因在病例组和对照组中的频数分布差异均无统计学意义（P〉0．05）；rs2236257位点等位基因与关系妄想、自责自罪妄想以及思维连贯性障碍3种临床症状相关联，其基因型与关系妄想、自责自罪妄想相关联（P〈0．05）。结论PIP3-E基因可能不是精神分裂症的易感基因。

Relationships between PIP3 - E gene polymorphism and schizophrenia in north Han Chinese population

Objective To investigate the genetic association between PIP3-E gene polymorphism and schizophrenia in the North Han Chinese.Methods The PCR-based restriction fragment length polymorphism(RFLP) technique was conducted to examine the genotypes of four single nucleotide of PIP3-E gene among 102 pedigrees consisting of fathers,mothers and affected offsprings with schizophrenia.Transmission disequilibrium test(TDT) and haplotype relative risk (HRR) test were conducted to analyze the genotyping data.And then relationship between the four SNPs and clinical symptoms of schizophrenia was tested.Results The distribution of genotype frequencies of the four SNPs were not deviated from the Hardy-Weinberg equilibrium either in the patient group or in the parent group.The transmission disequilibrium test(TDT) showed neither of the allele transmitted from heterozygotic parents to affected offsprings biased from 50%(P>0.05).The haplotype relative risk test(HRR) did not show significant frequency distribution difference of allele between case group and control group in any SNP of the four(P>0.05).There were correlations between rs2236257 allelic frequencies and some clinical symptoms of schizophrenia,such as delusion of observation,delusion of negation,and incoherence of thinking(P<0.05),and there were correlations between its genotypic frequencies and some clinical symptoms of schizophrenia,such as delusion of observation and delusion of negation(P<0.05).Conclusion The polymorphism of PIP3-E locus may not be the susceptible gene of schizophrenia.