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目的探讨LINGO1基因rs9652490和rs11856808多态性与多系统萎缩(MSA)的关系。方法采用聚合酶链反应(PCR)结合DNA直接测序法对中国大陆汉族人群54例MSA患者和430例正常对照者进行LINGO1基因rs9652490和rs11856808多态性分析。采用SPSS13.0和Haploview4.1统计学软件包比较这两个多态在MSA患者和正常人之间的分布差异。结果 (1)rs9652490和rs11856808在MSA患者与正常对照者间基因型频率和等位基因频率的差别无统计学意义(P>0.05);(2)rs9652490和rs11856808的亚单倍型研究发现MSA患者与正常对照者间的差别无统计学意义(P>0.05);(3)测序过程中发现的多态rs72744599在MSA患者与正常对照者间的分布差别无统计学意义(P>0.05)。结论 LINGO1基因的多态性可能与中国大陆汉族人群的MSA遗传易感性的关系不大。
Objective To investigate the relationship between polymorphisms of rs9652490 and rs11856808 in LINGO1 gene and multiple system atrophy (MSA). Methods Polymorphisms of rs9652490 and rs11856808 in LINGO1 gene were detected in 54 MSA patients and 430 normal controls in Han population of mainland China by polymerase chain reaction (PCR) and DNA direct sequencing. SPSS13.0 and Haploview4.1 statistical software packages were used to compare the distribution of these two polymorphisms between MSA patients and normal subjects. Results There was no significant difference in genotype frequency and allele frequency between rs9652490 and rs11856808 between MSA patients and normal controls (P> 0.05). (2) The sub-haplotypes of rs9652490 and rs11856808 were found in MSA patients (P> 0.05). (3) There was no significant difference in the distribution of polymorphism rs72744599 between MSA patients and normal controls (P> 0.05). Conclusion The polymorphism of LINGO1 gene may not be related to the genetic susceptibility to MSA in Chinese Han population.