广西壮族人群IL-12基因的单核苷酸多态性研究

Single nucleotide polymorphisms of IL-12 gene in Zhuang populations in Guangxi

目的分析白细胞介素(IL)-12A基因单核苷酸多态性(SNP)位点rs568408和IL-12B基因SNP位点rs3212227的各基因型和等位基因在广西壮族人群中的分布频率,及不同地区的分布差异。方法采用单碱基延伸的PCR技术对165例广西壮族人群IL-12A rs568408和IL-12B rs3212227进行多态性检测,对比国际人类基因组计划(Hap Map)公布的中国北京、日本、非洲和意大利人群的SNP分型数据,分析5个人群rs568408、rs3212227位点的基因型和等位基因频率差异。结果在广西壮族人群中存在rs568408和rs3212227多态性,2位点基因型及等位基因频率在男女性别间差异无统计学意义(P>0.05),IL-12A rs568408与北京、日本和意大利人群差异无统计学意义(P>0.05),但与非洲人群存在差异(P<0.01);IL-12B rs3212227与北京和日本人群差异无统计学意义,但与非洲和意大利人群存在差异(P<0.01)。结论 IL-12A rs568408和IL-12B rs3212227存在多态性,2位点基因型和等位基因在广西壮族人群中的分布频率与其他种族和地区人群相比存在差异,这种差异可能是导致某些疾病在不同人群发病率和临床表现存在差异的原因之一。

Objective To investigate the frequencies of genotype and allele distribution of IL-12A gene single nucleotide polymorphisms （SNP） rs568408 and IL-12B gene SNP rs3212227 in Zhuang populations in Guangxi, and to compare the distribution of IL-12A and IL-12B polymorphisms among different races. Methods The IL-12A SNP rs568408 and IL-12B SNP rs3212227 were detected by SNaPshot SNP genotyping technique in 165 Zhuang people in Guangxi, frequencies of genotype and allele of IL-12A gene rs568408 and IL-12B rs3212227 polymorphisms were analyzed in Zhuang populations compared with the other four populations（HapMap-HCB, HapMap-JPT, HapMap-YRI, HapMap-TSI）from HapMap database. Results There were polimorphisms of IL-12A and IL-12B gene in Zhuang populations in Guangxi. The frequencies of allele and genotype distribution of IL-12A gene rs568408 polymorphisms were not significantly differenct compared with HapMap-HCB, HapMap-JPT and HapMap-TSI（P〈0.05）, but were significantly different compared with HapMap-YRI（P〈0.01）;The frequencies of allele and genotype distribution of IL-12B rs3212227 polymorphisms were not significantly differenct compared with HapMap-HCB and HapMap-JPT（P〈0.05）, but were significantly different compared with HapMap-YRI and HapMap-TSI（P〈0.01）. Conclusion There are significant differences in the frequencies of allele and genotype distribution of IL-12A gene rs568408 and IL-12B gene rs3212227 between Zhuang populations and other ethnic populations, and this variation might contribute to a variety of clinical manifestation and morbidity of some IL-12 related diseases.