胞浆型磷脂酶A2家族基因多态性与精神分裂症的关联性研究

目的 探讨中国北方汉族人群胞浆型磷脂酶A2(cPLA2)家族基因多态性与精神分裂症的遗传关联性.方法 采用聚合酶链反应(PCR)和连接酶检测反应(LDR)方法,在201个精神分裂症患者核心家系中检测cPLA2家族基因上的10个单核苷酸多态性(SNPs),对结果进行单倍型相对风险分析(HRR)、传递不平衡分析(TDT)、单倍型分析和多位点联合分析.结果 各位点在精神分裂症病例组和对照组中基因型分布均符合Hardy-Weinberg平衡.HRR和TDT分析表明,检测的10个SNPs位点与精神分裂症无关联性(P＞0.05).单倍型分析结果显示,由同一染色体上各位点组成的单倍型与精神分裂症均无关联性(P＞0.05).多位点联合作用分析显示,rs2162886与rsl668589,rs891014与rsl668589,rs2307279与rs7542180位点的联合作用与精神分裂症相关联(χ²=6.913,P=0.032;χ²=8.393,P=0.015;χ²=8.447,P=0.038).结论 cPLA2家族基因中存在多个与精神分裂症关联的易感位点.

Study on the genetic association between the polymorphism of eytosolic phospholipase A2 family genes and schizophrenia

OBJECTIVE: To investigate the genetic association between the polymorphism of cytosolic phospholipase A2 (cPLA2) family genes and schizophrenia in the North Han Chinese. METHODS: Method of polymerase chain reaction-based ligase detection reaction (PCR-LDR) was applied to genotype 10 single nucleotide polymorphisms (SNPs) of cPLA2 family genes among 201 pedigrees consisting of fathers, mothers and affected offsprings with schizophrenia. Haplotype relative risk (HRR) test, transmission disequilibrium test (TDT), haplotype transmission analysis and multiple locus analysis were conducted to analyze the genotyping data. RESULTS: The genotypic frequency of cPLA2 gene did not deviate from Hardy-Weinberg equilibrium in both case and control groups. HRR and TDT showed that the 10 SNPs were not associated with schizophrenia (P > 0.05). Analysis for haplotype transmission showed that no haplotype systems was associated with schizophrenia (P > 0.05). Results from COA and COG tests showed a disease association for the rs2162886-rs1668589, rs891014-rs1668589 and rs2307279-rs7542180 combinations (chi2 = 6.913, P = 0.032; chi2 = 8.393, P = 0.015; chi2 = 8.447, P = 0.038). CONCLUSION: Many loci in the cPLA2 family genes were associated with schizophrenic.