广西人群中IL-33基因rs10975498C/T、rs16924144C/T多态性的分布特点

The distribution characteristics of IL-33 gene rs10975498C/T and rs16924144C/T polymorphism in Guangxi population

目的探讨IL-33基因rs10975498C/T、rs16924144C/T 2位点的多态性在广西人群中的分布特点;分析各基因型及等位基因的分布频率在广西人群中不同性别间的差异。方法采用单碱基延伸法(PCR-SEB)及DNA测序对283例广西地区受试者的IL-33基因rs10975498C/T、rs16924144C/T位点进行多态性分析。用统计学方法分析其分布频率及组间差异。结果rs10975498C/T存在CC、TT、CT 3种基因型,分布频率分别为23.7%、20.8%、55.3%,其各基因型及等位基因频率在广西人群中男女性别之间无显著差异(P>0.05),其基因型频率与人类基因组计划公布的欧洲人、非洲黑人、北京汉族人及日本人群之间有显著差异(P<0.05),而等位基因频率仅与欧洲人及非洲黑人群间有显著差异(P<0.01)。rs16924144C/T存在CC、TT、CT 3种基因型,分布频率分别为22.7%、19.0%、58.3%,其各基因型及基因频率在广西地区人群中男女之间也无统计学意义(P>0.05),其基因型与等位基因频率与非洲黑人群相比差异有统计学意义(P<0.05)。结论 IL-33基因rs10975498C/T、rs16924144C/T的基因多态性存在着不同程度的种族和地区差异。

To explore the distribution characteristics of rs10975498C/T and rs16924144C/T polymorphism of IL-33 gene and analyze the differences of its distribution frequency between the sexes of every genotype and allele in the Guangxi population, we use the methods of polymerase chain reaction-single base extension （PCR-SBE） and DNA sequencing to detect the polymorphism of rs10975498C/T and rs16924144 C/T of IL-33 gene in 283 subjects from Guangxi Zhuang autonomous region, and the distribution frequency and the differences between groups were analyzed statistically. Data showed that three genotypes of CC, TT and CT were found in rs10975498CFF with the frequencies of 23.7%, 20.8% and 55.30/0 respectively and there was no significant difference between sexes of each genotype and allele frequency in the Guangxi population （P〉0.05）, but there was significant difference of the genotype frequency as compared with HapMap-CEU, HapMap-YRI, HapMap-HCB and HapMap-JPT （P〈0.05）, while there was significant difference of allele frequency only between Guangxi population and HapMap-CEU, HapMap-YRI （P〈0.01）. Three genotypes of CC, TT and CT were found in rs16924144CFF with the frequencies of 22.7%, 19.0%, 58.3% respectively and there was no significant difference between sexes of each genotype and allele frequency in the Guangxi population （P〉0.05）, but the differences of genotype and allele frequency of rs16924144C/T was statistically significant between Guangxi population and Black African （P〈0.01）. In conclusion, rs10975498C/T and rs16924144C/T polymorphism of IL-33 gene are different in different races and regions.