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目的研究白细胞介素-6(Interleukin-6,IL-6)基因启动子区rs1800796C/G的等位基因及其基因型在中国广西地区人群中的分布频率,比较其与其他种族的分布差异。方法采用单碱基延伸的PCR技术和DNA测序法检测199名中国广西人群的IL-6基因启动子区rs1800796C/G单核苷酸多态性(single nucleotide polymorphism,SNP),并与人类基因组计划(Hapmap)公布的四个人群(非洲人、欧洲人、日本人和北京人)的SNP分型数据做比较,分析其基因型及等位基因的分布频率在这五个人群中的分布差异。结果广西地区人群中IL-6基因启动子区rs1800796C/G基因型及等位基因频率在男女组间比较差异无统计学意义(P>0.05)。与日本人和北京人比较,IL-6基因启动子区rs1800796C/G基因多态性的分布频率差异无统计学意义(P均>0.05),但与欧洲和非洲人群比较差异有统计学意义(P均<0.05)。结论在中国广西人群中IL-6基因启动子区rs1800796C/G存在基因多态性,其基因型分布及等位基因分布频率与性别无相关性,但与其他种族人群相比存在明显差异。
Objective To study the distribution frequency of rs1800796C / G allele and its genotype in Interleukin-6 (IL-6) gene promoter region in population of Guangxi in China and to compare the distribution of allele and its genotype with that of other races. Methods The single nucleotide polymorphisms (SNPs) of rs1800796C / G in IL-6 gene promoter region of 199 Chinese Guangxi population were detected by single base extension PCR and DNA sequencing. (Hapmap) published four populations (African, European, Japanese and Beijingers) SNP typing data were compared to analyze the distribution of the genotype and allele frequencies in these five populations. Results There were no significant differences in rs1800796C / G genotypes and allele frequencies among IL-6 gene promoter regions between men and women in Guangxi population (P> 0.05). Compared with Japanese and Beijingers, there was no significant difference in the frequencies of rs1800796C / G polymorphism in IL-6 promoter (P> 0.05), but there was significant difference between European and African populations P <0.05). Conclusion There is polymorphism of rs1800796C / G in promoter region of IL-6 gene in Guangxi population in China. There is no correlation between genotype distribution and frequency of allele distribution and gender, but there is a significant difference compared with other ethnic groups.