SMPD1基因多态性与帕金森病发病关系的研究

The relationship between SMPD1 gene polymorphism and onset of Parkinson′s disease

目的分析SMPD1基因多态性与帕金森病(PD)发病的关系,为PD患者的治疗提供新的靶点。方法收集2017年6月至2019年1月该院神经内科收治的216例PD患者(PD组)和同期在本院体检的216名健康者(健康组)作为研究对象,参照SMPD1基因序列及相关文献设计引物序列,采用PCR和限制性内切酶酶切技术检测两组SMPD1基因多态性。结果PD组rs1050228位点TT、CT、CC基因频率、等位基因T、C频率(分别为73.15%、5.56%、21.30%、76.07%、23.93%)与健康组(分别为72.22%、6.02%、21.76%、78.03%、21.97%)相比较差异均无统计学意义(P>0.05);rs7951904位点的CC、CT基因频率、等位基因C、T频率(分别为99.07%、0.93%、99.64%、0.36%)与健康组(分别为99.54%、0.46%、99.81%、0.19%)相比较,差异均无统计学意义(P>0.05);rs202081954位点的CC、CG基因频率、等位基因C、G频率(分别为99.07%、0.93%、99.64%、0.36%)与健康组(分别为99.54%、0.46%、99.81%、0.19%)相比较,差异均无统计学意义(P>0.05);rs1050239位点的等位基因G、A频率(分别为81.43%、18.57%)与健康组(分别为91.62%、8.38%)相比较差异有统计学意义(P<0.05);PD组和健康组均发现缬氨酸重复次数的多态,且PD组缬氨酸重复次数分布概率与健康组相比较,差异有统计学意义(P<0.05)。结论SMPD1基因突变型p.G508R及缬氨酸<7个重复多态在PD的诊断或预防中可提供有用参考信息。

Objective To analyze the relationship between SMPD1 gene polymorphism and the onset of Parkinson′s disease(PD),so as to provide new targets for the treatment of PD.Methods A total of 216 patients with PD(PD group)who were admitted to the neurology department of the hospital from June 2017 to January 2019 and 216 healthy people(healthy group)who underwent physical examination in the hospital during the same period were selected as the study subjects.Primer sequences were designed referring to SMPD1 gene sequences and related literature.The SMPD1 gene polymorphism in both groups was detected by PCR and restriction endonuclease technology.Results The TT,CT and CC gene frequencies,allele T and C frequencies at rs1050228 locus in PD group were 73.15%,5.56%,21.30%,76.07%and 23.93%.Compared with those in the healthy group(72.22%,6.02%,21.76%,78.03%and 21.97%),there was no statistical significance(P>0.05).The CC and CT gene frequencies,allele C and T frequencies at rs7951904 locus in PD group were 99.07%,0.93%,99.64%and 0.36%.Compared with those in the healthy group(99.54%,0.46%,99.81%,0.19%),there was no statistical significance(P>0.05).The CC and CG gene frequencies,allele C and G frequencies at rs202081954 locus in PD group were 99.07%,0.93%,99.64%and 0.36%.Compared with those in the healthy group(99.54%,0.46%,99.81%,0.19%),there was no statistical significance(P>0.05).The alleles G and A frequencies at rs1050239 locus between PD group(81.43%and 18.57%)and the healthy group(91.62%and 8.38%),the difference was statistically significant(P<0.05).There was valine repeat polymorphism in both PD group and the healthy group.Besides,there was a significant difference in the distribution probability of valine repeat between the two groups(P<0.05).Conclusion SMPD1 gene mutant p.G508R and valine less than 7 repeat polymorphisms can provide useful reference information for diagnosis and prevention of PD.