α-突触核蛋白基因多态性与帕金森病的关联分析

Correlation between polymorphism of α-synuclein gene and Parkinson's disease

摘要:

目的： 探讨α-突触核蛋白基因（α-synuclein gene，SNCA）rs1372525、rs3822086等位点基因多态性与新疆地区帕金森病的关联性。 方法： 采用病例-对照研究，收集来自新疆医科大学各个附属医院门诊及病区225例帕金森病患者及231例年龄、性别、生源地等条件与其相匹配的健康体检者，分别作为病例组及对照组；采集2组参与者外周血液，通过提取脱氧核糖核酸（deoxyribonucleic acid，DNA），聚合酶链反应（polymerase chain reaction，PCR）对2组参与者的SNCA rs1372525、rs3822086等位点进行多态分析。 结果： 病例组与对照组SNCA rs1372525位点分别测得AA型161、164例，AG型54、61例，GG型10、6例，等位基因A的频率分别为83.6%和84.2%，等位基因G在2组间的频率分别为16.4%和15.8%，rs1372525位点3种基因型及等位基因分布频率在帕金森病组与对照组间的差异无统计学意义（P>0.05）。病例组与对照组rs3822086位点分别测得CC型47、73例，CT型115、113例，TT型63、45例，等位基因C的频率为46.4%、56.1%，等位基因T的频率为53.6%、43.9%，可见该位点rs3822086 CC基因型和等位基因C在2组间的差异无统计学意义（P>0.05）；而CT、TT 2种基因型及等位基因T的分布频率在2组之间的差异有统计学意义（P<0.05）。 结论： SNCA rs1372525位点多态性与帕金森病的发病无关。rs3822086考虑是帕金森病发生发展中的易感位点之一。

Abstract:

Objective: To investigate the correlation between the susceptibility of rs1372525 and rs3822086 polymorphisms of αsynuclein gene (SNCA) and Parkinson's disease in Xinjiang. Methods: A case-control study was conducted to collect the peripheral blood of 225 outpatients with Parkinson's disease from the Affiliated Hospitals of Xinjiang Medical University and 231 healthy subjects matched with age, gender and place of birth. The patients were divided as the case group and the control group. The peripheral blood of two groups of participants were collected, and the polymorphism of SNCA rs1372525 and rs3822086 loci were analyzed by deoxyribonucleic acid (DNA) amplification and polymerase chain reaction (PCR). Results: The SNCA rs1372525 loci of the case group and the control group were respectively detected in 161 and 164 cases of AA type, 54 and 61 cases of AG type, and 10 and 6 cases of GG type. The frequency of allele A was 83.6% and 84.2% respectively, and the frequency of allele G was 16.4% and 15.8%. There was no significant difference in the distribution frequency of genotypes and alleles between the case group and the control group (P>0.05). There were 47 and 73 cases of CC type, 115 and 113 cases of CT type and 63 and 45 cases of TT type detected at rs3822086 locus in case group and control group, respectively. The frequency of allele C was 46.4% and 56.1%, and the frequency of allele T was 53.6% and 43.9%, respectively. There was no significant difference in rs3822086 CC genotype and allele C between the two groups (P>0.05). However, there were significant differences in the distribution frequency of CT and TT genotypes and allele T between the two groups (P<0.05). Conclusion: There is no correlation between SNCA rs1372525 locus polymorphism and the incidence of Parkinson's disease, and rs3822086 locus is considered as one of the susceptible sites in the occurrence and development of Parkinson's disease.