广西人群白细胞介素17A基因rs3819024和rs1974226的多态性

目的 探讨白细胞介素17 A（IL-17A）基因rs3819024和rs1974226多态性在广西人群中的分布特点，比较不同种族和地区人群间两位点基因型和等位基因频率的差异。 方法 采用SNaPshot SNP技术和DNA测序法，检测443例广西人rs3819024和rs1974226 多态性，统计分析两位点基因型和等位基因频率与国际人类基因组单体型图计划公布的北京汉族人群（HapMap-CHB）、日本人群（HapMap-JPT）、欧洲人群（HapMap-CEU）和非洲人群（HapMap-YRI）的差异。结果 广西人群rs3819024存在 GG、GA和AA 3种基因型，而rs1974226存在CC、CT和TT 3种基因型，两位点基因型和等位基因频率在不同性别间比较，差异均无统计学意义(P>0.05)。广西人群rs3819024 基因型和等位基因频率与HapMap-CHB人群比较，差异均无统计学意义（P>0.05），然而与 HapMap-JPT、HapMap-CEU和HapMap-YRI人群比较，差异均有统计学意义（P<0.01）。而广西人群rs1974226基因型和等位基因频率与HapMap-CHB和HapMap-JPT人群比较，差异均无统计学意义（P>0.05），然而与HapMap-CEU和HapMap-YRI人群比较，差异均有统计学意义（P<0.05）。 结论 广西人群存在IL-17A基因rs3819024和rs1974226多态性，与其他种族和地区人群比较存在不同程度的差异。

Polymorphisms of rs3819024 and rs1974226 in interleukin-17A gene in Guangxi populations

Objective To explore the polymorphisms of rs3819024 and rs1974226 in interleukin-17A (IL-17A) gene in Guangxi populations, and to compare their genotypes and allele frequency with different races and region populations. Methods The polymorphisms of rs3819024 and rs1974226 of 443 Guangxi participants were detected by SNaPshot SNP and DNA sequencing method . Statistical method was used to compare the distribution difference between the genotype and allele frequency of rs3819024 and rs1974226. Four populations (HapMap-CHB, HapMap-JPT, HapMap-CEU, HapMap-YRI) were studied and published by the international HapMap project. Results The rs3819024 polymorphism contained GG, GA and AA genotypes respectively, while the rs1974226 polymorphism contained CC, CT and TT genotypes respectively in Guangxi population. The genotype and allele frequency of rs3819024 and rs1974226 were not significantly different between genders in Guangxi population (P>0.05). The genotype and allele frequency of the rs3819024 polymorphism in Guangxi population were not significantly different from HapMap-HCB (P>0.05), but were significantly different from HapMap-JPT, HapMap-CEU and HapMap-YRI population (P<0.01).The genotype and allele frequency of the rs1974226 polymorphism in Guangxi population were not significantly different from HapMap-HCB and HapMap-JPT population (P>0.05), but were significantly different from HapMap-CEU and HapMap-YRI population (P<0.05). Conclusion There are IL-17A rs3819024 and rs1974226 polymorphisms in Guangxi population, and there are varying degrees of difference in genotype and allele distribution of the two polymorphisms between Guangxi population and different other races and region populations.