摘要目的 探讨山东地区汉族人群单核细胞趋化蛋白-1基因(MCP-1基因)-2518A/G位点多态性与Tourette综合征(TS)发病之间的关系.方法 应用聚合酶链反应-限制性片段长度多态性对山东地区汉族人群193例TS患儿(TS组)和252例健康对照者(健康对照组)进行MCP-1基因-2518A/G位点多态性检测,采用病例对照研究的方法,分析MCP-1基因-2518A/G多态性与TS发病间的关系.结果 MCP-1基因-2518A/G位点GG基因型、AA基因型和AG基因型在TS组中频率分布分别为29.5％、19.7％和50.8％,在健康对照组中频率分布分别为33.7％、21.0％和45.3％,基因分布均符合Hardy-Weinberg平衡检验(P ＞0.05);GG、AA和AG 3种基因型在2组间分布比较,差异均无统计学意义(P均＞0.05).G和A等位基因在TS组中频率分布分别为54.9％和45.1％;健康对照组中为56.3％和43.7％,2组间分布差异均无统计学意义(P均＞0.05).结论 MCP-1基因-2518A/G多态性与TS发病无显著关联,但仍需扩大样本量、分严重程度在不同种族中进行验证.

abstractsObjective To study the relationship between monocyte chemoattractant protein-1 (MCP-1)gene -2518A/G polymorphisms and Tourette syndrome(TS) in Han population of Shandong Province.Methods One hundred and ninety-three TS patients(TS group) and 252 healthy individuals(healthy control group) were collected from Han population of Shandong Province.Polymerase chain reaction and restriction enzyme digestion were used for determining the genotype of MCP-1-2518A/G polymorphisms.The data were analyzed by using the case-control study to research the relationship between MCP-1-2518A/G polymorphisms and TS.Results The frequency distributions of GG,AA and AG genotype of MCP-1-2518A/G in TS patients were 29.5％,19.7％ and 50.8％,and in healthy controls they were 33.7％,21.0％ and 45.3％,respectively.All the data were in accordance with Hardy-Weinberg equilibrium (P ＞ 0.05).The genotype distributions of GG,AA and AG genotypes were compared separately between the 2 groups,and there was no statistically significant difference(all P ＞0.05).The frequency distributions of G allele and A allele in TS patients were 54.9％ and 45.1％,and in healthy controls they were 56.3％ and 43.7％.No significant difference was found between the 2 groups (all P ＞ 0.05).Conclusions There is no significant association between MCP-1-2518A/G polymorphisms and TS.However,further study is still needed by expanding the sample size,stratifying patients according to the disease severity and collecting patients in different races.