广西人群中白介素-33基因rs1891385A/C、rs10975519C/T 多态性的分布特点

目的研究探讨IL-33基因rs1891385A/C、rs10975519C/T两位点的多态性在广西壮、汉族人群中的分布特点。分析各基 因型及等位基因的分布频率在广西人群中种族、性别间的差异。方法采用单碱基延伸法（PCR-SEB）及DNA测序对283例受 试者的IL-33 基因rs1891385A/C、rs10975519C/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 rs1891385A/C 存在AA、AC、CC3种基因型，分布频率分别为64.3% 、32.5%、3.2% 。其各基因型及等位基因频率在广西人群中 壮、汉，男、女性别之间无显著差异（P均>0.05）。其基因型与等位基因频率与人类基因组计划公布的欧洲人、非洲黑人之间均有 显著差异（P<0.01）。rs10975519C/T存在CC、CT、TT 3种基因型，分布频率分别为34.3% 、53.0%、12.7%。其各基因型及基因频 率在广西地区人群中壮、汉，男、女之间也无统计医学意义（P>0.05）。其基因型仅与欧洲人、日本人差异有统计学意义（P< 0.01）。其等位基因频率仅与欧洲人群相比差异有统计学意义（P<0.01）。结论IL-33基因rs1891385A/C、rs10975519C/T的基 因多态性存在着不同程度的种族和地区差异。

Distribution characteristics of rs1891385A/C and rs10975519C/T polymorphisms of interleukin-33 gene in Guangxi population

Objective To explore the race- and gender-specific distribution characteristics of rs1891385A/C and rs10975519C/T polymorphism of interleukin-33 (IL-33) gene in Zhuang and Han populations. Methods The polymorphisms of rs1891385A/C and rs10975519C/T of IL-33 gene in 283 subjects from Guangxi Zhuang Autonomous Region were analyzed with single base extension (PCR-SEB) and DNA sequencing to analyze the differences in their distribution frequencies between genders and between Zhuang and Han populations. Results Three genotypes (AA, AC and CC) were found in rs1891385A/C with frequencies of 64.3%, 32.5% and 3.2%, respectively. The genotype and allele frequencies of rs1891385A/C in this Guangxi population showed no significant difference between Zhuang and Han subpopulations and between genders (P>0.05), but differed significantly from those in European and African black populations (P<0.01). Three genotypes (CC, CT and TT) were identified in rs10975519C/T with frequencies of 34.3%, 53.0%, and 12.7%, respectively, showing no significant ethnic or gender-specific differences in this population (P>0.05). The genotype frequency of rs10975519C/T in this population differed significantly from those in the European and Japanese populations (P<0.01), but the allele frequencies only showed significant differences from those in the European population (P<0.01). Conclusion rs1891385A/C and rs10975519C/T polymorphisms of IL-33 gene show a race-specific difference.