神经肽S受体基因多态性与原发性失眠的相关性研究

Study on the correlation between neuropeptide S receptor gene polymorphism and primary insomnia

目的探讨神经肽S受体(neuropeptide S receptor,NPSR)基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs323917、rs323920、rs323922、rs2530547、rs324957)与原发性失眠(primary insomnia,PI)的相关性。方法选取2016年12月至2019年5月在甘肃省人民医院睡眠医学中心门诊就诊并确诊的PI患者157例作为PI组,选取同期133名健康体检者作为对照组。抽取受试者的静脉血标本,并提取DNA、聚合酶链反应(polymerase chain reaction,PCR)扩增、琼脂糖凝胶电泳,目标位点测序对rs323917、rs323920、rs323922、rs2530547、rs324957单核苷酸位点进行基因分型,同时行标准多导睡眠监测,分析基因多态性与PI的相关性。结果两组受试者的NPSR SNP位点(rs323917、rs323920、rs323922、rs2530547)基因型分布和等位基因频率及rs324957等位基因频率的差异均无统计学意义(P>0.05);rs324957位点基因型分布差异有统计学意义(P=0.034);两组受试者不同单倍型频率差异无统计学意义(P>0.05)。结论NPSR rs324957 SNP位点基因型表达或与PI相关,且以AG基因型为主。

Objective To investigate the correlation between neuropeptide S receptor(NPSR)single nucleotide polymorphism(SNP)(rs323917,rs323920,rs323922,rs2530547,rs324957)and primary insomnia(PI).Methods A total of 157 patients diagnosed with PI in the outpatient department of Center of Sleep Medicine,Gansu Provincial People’s Hospital from December 2016 to May 2019 were selected as PI group,and 133 healthy physical examination subjects during the same period were selected as control group.Venous blood samples were collected and DNA,polymerase chain reaction(PCR)amplification and agarose gel electrophoresis were extracted.rs323917,rs323920,rs323922,rs2530547,rs324957 single nucleotide loci were genotypized by target site sequencing.Meanwhile,standard polysomnosis monitoring was performed to analyze the correlation between gene polymorphism and PI.Results There were no significant differences in the genotype distribution of NPSR SNP sites(rs323917,rs323920,rs323922,rs2530547)and allele frequency and rs324957 allele frequency between two groups(P>0.05).There was significant difference in genotype distribution of rs324957(P=0.034).There was no significant difference in the frequency of different haplotypes between two groups(P>0.05).Conclusion The expression of rs324957 SNP genotypes in NPSR may be related to PI,and AG genotype is dominant.