白细胞介素17A基因rs3748067位点单核苷酸多态性在广西人群中的分布特点

Distribution characteristics of SNPs of IL-17A in gene rs3748067 locus in Guangxi population

目的研究白细胞介素17A(IL-17A)基因rs3748067位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)在广西人群中的分布特点,比较其基因型和等位基因频率在不同种族、地区人群间的分布差异。方法用SNa Pshot SNP分型技术和DNA测序法检测443例广西人群rs3748067位点SNPs,分析其基因型和等位基因频率与国际人类基因组单体型图(Haplotype map,Hap Map)计划公布的北京汉族人群(Hap Map-CHB)、日本人群(Hap MapJPT)、非洲人群(Hap Map-YRI)和印度人群(Hap Map-GIH)间的差异。结果广西人群rs3748067位点存在GG、GA和AA三种基因型,其频率分别为82.2%、17.4%和0.4%,G和A等位基因频率分别为90.9%和9.1%。广西人群IL-17A基因rs3748067位点基因型和等位基因频率在同一种族不同性别间比较差异均无统计学意义(P>0.05)。广西人群IL-17A基因rs3748067位点基因型和等位基因频率与Hap Map-CHB人群比较差异无统计学意义(P>0.05),然而与Hap Map-JPT、Hap Map-YRI和Hap Map-GIH人群比较差异有统计学意义(P<0.01)。结论广西人群存在IL-17A基因rs3748067位点多态性,与其他种族、地区人群比较存在不同程度的差异,这些差异可能是导致IL-17A基因相关疾病在不同种族、地区人群间临床表现和发病率存在较大差异的因素之一。

Objective To explore the distribution characteristics of SNPs（sing1e nucleotide po1ymorphisms）of IL-17A （Inter1eukin-17A）in gene rs3748067 locus in Guangxi popu1ation,and to compare its genotype and allele frequency among populations with different races and regions.Methods The SNPs in rs3748067 locus among 443 people in Guangxi was de-tected by SNaPshot SNP and DNA sequencing methods.Then their genotype and allele frequency were compared with Hap- Map-CHB, HapMap-JPT, HapMap-YRI and HapMap-GIH published by international HapMap（Haplotype map）project. Re-sults GG,GA and AA genotypes existed in rs3748067 locus,and the frequency of them was 82.2%, 17.4% and 0.4% re- spectively,and the frequency of G and A allele was 90.9% and 9.1% respectively.The genotype and allele frequencies of IL-17A gene at rs3748067 locus in Guangxi population were not statistically different between the same races（ P 〉0.05） .Differ-ence of the genotype and allele frequencies of IL-17A gene at rs3748067 locus between Guangxi population and HapMap-CHB population was not statistically significant（P〉0.05） ,however,that of the genotype and allele frequencies of IL-17A gene at rs3748067 locus between Guangxi population and HapMap-JPT,HapMap-YRI and HapMap-GIH populations was statistically significant（ P〈 0 .0 1 ） .Conclusion There is a polymorphism of IL-17A at gene rs3748067 in Guangxi population,with different levels of difference while comparing with other races and regions.And the difference may be one of the factors that causes differ-ence of clinical manifestations and morbidity of IL-17A gene related diseases in populations among different races and region.