创伤后应激障碍与 ANKK1基因多态性的相关性研究

摘要

Objective To detect the genetic association between posttraumatic stress disorder and polymor-phism of Anlcyrin repeat and kinase domain containing 1 (ANKK1)gene.Methods 148 patients with posttraumatic stress disorder (PTSD)diagnosed by DSM-Ⅳ were chosen as the case group.Another 200 patients were taken as the control group who experienced traumatic events but did not develop stress disor-ders.SNP-shot technology was used to detect the polymorphism of ANKK1 rsl800497 loci (GG,GA,G, AA genotype and A allele).Results ANKK1 rs1800497 loci showed that the GG genotype frequency was higher than GA/ AA type,the genotype frequencies between stress disorder group and the control group had a statistically significant difference (P =0.031),the individual had a higher risk of PTSD with GA, AA genotypes (OR =1.766,95% CI =1.523-2.101,OR =1.434,95% CI =1.167-3.205).The frequen-cy of allele G,A between stress disorder group and the control group had a statistically significant differ-ence (P =0.022),the frequency of an allele in stress disorder group was higher than that in control group, which had higher relative risk (OR =1.211,95% CI =0.890-1.647).Conclusion Genetic polymorphism of ANKK1 is related to posttraumatic stress disorder (PTSD).Carriers of A allele are likely to develop posttraumatic stress disorder (PTSD).%目的：探讨创伤后应激障碍（PTSD）遗传易感性与锚蛋白重复和激酶域 l（ANKK1）基因多态性的关系。方法选取 DSM-IV 诊断明确的 PTSD 患者148例作为病例组，以经历创伤事件但没有发展为 PTSD 的患者200例作为对照组。应用 SNP-shot 技术，对 ANKK1基因 rsl800497位点（GG、GA、AA 基因型和 G、A 等位基因）多态性进行检测。结果ANKK1基因 rs1800497位点显示出 GG 基因型频率最高，GA 型次之，AA 型最低，病例组与对照组基因型频率差异有统计学意义（P ＝0．031），携带 GA、AA 基因型具有较高的应激障碍发病风险（OR ＝1．766，95％ CI ＝1．523～2．101，OR ＝1．434，95％ CI ＝1．167～3．205）。两组 ANKK1基因相应的 G、A 等位基因频率差异具有统计学意义（P ＝0．022），病例组 A 等位基因频率高于对照组，具有较高的相对风险性（OR ＝1．211，95％ CI＝1．190～1．647）。结论ANKK1基因多态性与 PTSD 相关，A 等位基因的携带者对 PTSD 易感。