中国汉族人群磷酸酶与张力蛋白同源物基因多态性与早发性精神分裂症的关联研究

Association study between gene polymorphisms of phosphatase and tensin homolog and early onset schizophrenia in Chinese Han population

目的：探讨中国汉族人群磷酸酶与张力蛋白同源物（phosphataseandtensinhomolog，PTEN）基因多态性与早发性精神分裂症（EOS）的关系。方法：纳入270例EOS患者和447名健康对照，用SNaPshot技术对PTEN的标签SNP进行基因分型，比较其等位基因、基因型、单体型分布频率在两组间有无差异。结果：rs2299941的等位基因分布在两组间存在边缘统计学差异（X2=4．454，P：0．035，校正P=0．175），GG基因型在隐性遗传模式下显著降低EOS的发生风险（OR=0．51，95％CI=0．31～0．85，P=0．007）。rs17562384的CC基因型在隐性遗传模式下显著增加EOS的发生风险（OR：2．23，95％CI=1．01～4．91，P=0．047）。单体型GTr（rs2299941、rsl7562384、rs532678）的分布频率在患者组与对照组间存在边缘统计学差异（O．308VS0．364；x2=4．677，P=0．031，校正P=0．057）。结论：中国汉族人群PTEN基因多态性与EOS易感性有关。

Objective：To explore the association between the gene polymorphisms of phosphatase and tensin homolog （WEN） and early onset scbizophrenia（EOS） in Chinese Han population. Method：270 EOS patients and 447 healthy controls were recruited, and SNaPshot was used to genotype the tag SNPs of PTEN. The allele, genotype and haplotype frequencies of the SNPs were compared between the two groups. Results：The allele distribution of rs2299941 showed a nominal significant difference between two groups （ X2 = 4. 454, P = 0. 035, adjusted P = 0.175 ）, and GG genotype significantly reduce the risk of EOS（ OR = 0.51,95% ~7 = 0.31 - 0.85 ,P =0. 007） under recessive inherited model. Moreover, CC genotype of rs17562384 was founded to in- crease the risk of E OS under recessive inherited model（ OR = 2.23,95% CI = 1.01-4.91,P = O. 047 ）. The fre- quency of haplotype G-T-T, consisted of rs2299941 ,rs17562384 ,rs532678, had a nominal significant difference between the two groups （0. 308 vs 0. 364;X2 =4. 677,P = 0. 031 ,adjusted P = 0. 057）. Conclusion：The gene polymorphisms of PTEN may be associated with the susceptibility of EOS in Chinese Han population.