广西壮族人群白细胞介素-27基因rs17855750G/T、rs40837A/G多态性分布特点

目的 分析广西壮族人群白细胞介素(IL)-27基因rs17855750 G/T、rs40837 A/G多态性分布特点,对比其基因型和等位基因频率与不同国家(地区)间种族的分布差异.方法 采用单碱基延伸的PCR技术对168例广西壮族人群IL-27基因rs17855750 G/T、rs40837 A/G进行多态性检测,对比国际人类基因组计划(HapMap)公布的中国北京人、日本人、非洲人和意大利人的单核苷酸多态性(SNP)分型数据,分析5个人群rs17855750 G/T、rs40837 A/G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IL-27基因rs17855750 G/T位点TT基因型最常见,约为70.2％,T等位基因频率最高,约为50.3％,rs40837 A/G多态性位点AA基因型最常见,约为35.7％,A等位基因频率最高,约为52.1％,IL-27基因rs17855750 G/T、rs40837 A/G多态性位点基因型及等位基因频率男女性别间比较差异无统计学意义(P＞0.05),IL-27 rs17855750 G/T与北京人比较差异无统计学意义(P＞0.05),但与日本人、意大利人和非洲人比较差异有统计学意义(P＜0.01);IL-27 rs40837 A/G与北京人比较差异有统计学意义(P＜0.05),且与日本人、非洲人和意大利人比较差异也有统计学意义(P＜0.01).结论 IL-27基因rs17855750 G/T、IL-27 rs40837 A/G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国家(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.

The distribution characteristics of interleukin-27 gene rs17855750 G/T and rs40837 A/G polymorphism of Zhuang populations in Guangxi

Objective To investigate the distribution characteristics of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphism in Zhuang populations of Guangxi,and to compare the distribution differences of genotype and allele frequencies of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms among different races.Methods The interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms were detected by SNaPshot SNP genotyping technique on 168 persons in Zhuang populations of Guangxi,frequencies of genotype and allele of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms were analyzed in Zhuang populations,and was compared with the other four populations (HapMap-HCB,HapMap-JPT,HapMap-YRI,HapMap-TSI) from HapMap database.Results The most common genotype and allele of interleukin-27 gene rs17855750 G/T polymorphysms were TT(70.2％) and G(50.3％) in Zhuang populations of Guangxi,and the most common genotype and allele of interleukin-27 gene rs40837 G/T polymorphysms were AC(35.7 ％) and C(52.1 ％).There were no significant differences in the genotype and allele frequencies of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphysms between male and female gender in Zhuang populations of Guangxi(P＞0.05).The frequencies of allele and genotype distribution of IL-27 gene rs17855750 G/T polymorphisms were not significantly different when compared with HapMap-HCB(P＞0.05),but were significantly different when compared with HapMap-JPT,HapMap-TSI and HapMap-YRI(P＜0.01);The frequencies of allele and genotype distribution of intetleukin-27 gene rs40837 A/G polymorphisms were significantly different when compared with HapMap-HCB(P＜ 0.05),and were significantly different when compared with HapMap-JPT,HapMap-YRI and HapMap-TSI(P＜0.01).Conclusion There are significant differences in the frequencies of allele and genotype distribution of interleukin-27 gene rs17855750 G/T,rs40837 A/G between Zhuang populations and other ethnic populations,and this variation may lead to a variety of clinical manifestation and morbidity of some diseases.