胆囊收缩素及受体基因多态性与精神分裂症的相关性研究

目的：探讨胆囊收缩素（cholecystokinin，CCK）基因、胆囊收缩素A受体（cholecystokininAreceptor。CCKAR）基因和胆囊收缩素B受体（cholecystokinin A recepmr，CCKBR）基因多态性与精神分裂症之间的相关性。方法：采用聚合酶链式反应．限制性片段长度多态性方法，对420例精神分裂症患者（病例组）和455例健康个体（对照组）三个基因的6个单核苷酸多态性（single nucleotide polymorphism，SNPs）位点（rs11571842、rs13069836、rs1800908、rs1800857、rs1042047、rs4758092）的多态性进行检测。并比较两组人群中基因型和等位基因频率分布的差异。结果：对照组6个SNPs位点的基因型频率分布均符合Hardy-Weinbere平衡（P〉0．05）；CCKAR基因rs1800857位点基因型频率分布在精神分裂症组与正常对照组间存在显著性差异（P〈0．000），病例组T等位基因频率显著高于对照组（P〈0．01）。结论：CCKAR基因多态性与精神分裂症相关，携带T等位基因的个体可能更容易患精神分裂症。

Association of Cholecystokinin and Its Receptor Gene with Schizophrennia

Objective： To investigate association of 6 single nucleotide polymorphisms （SNPs） in cholecystokinin （CCK）, cholecystokinin A recepter （CCKAR） and cholecystokinin B recepter （CCKBR） with schizophrenia. Method： Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to detect 6 SNPs （rsl 1571842, rs13069836, rs1800908, rs1800857, rs1042047 and rs4758092） in 420 schizophrenic patients （case group） and 455 healthy individuals （control group） of the Han population in Shanxi China. The x2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution in control group. The differences of genotype and allele frequencies distributions were compared between two groups. Result： Distributions of the genotype frequencies of all 6 SNPs satisfied the law of Hardy-Weinberg equilibrium in control group. The difference of genotype frequencies of rs1800857 in CCKAR were statistical significance in case group and control groups （P〈0.000） and the frequency of allele T in case group was statistically higher than that in control group （P〈0.01）. Conclusion： The polymorphism of CCKAR gene may be positively associated with schizophrenia in female population and useful in schizophrenia identification.