林玛丽 蔡旭龙 李秀洪 曹珊 刘运广 李东秀 陈霞静 李东明 林娜

【摘要】 目的 探討IL-33基因rs4740840G/A、rs16924159G/A两位点的多态性在广西黑衣壮儿童中的分布特点及其与不同种族人群的比较。方法 采用多重连接酶检测反应（improved multi-ligase detection reaction，imLDR）技术对251例受试者（黑衣壮儿童121人，汉族儿童130人）的IL-33基因rs4740840G/A、rs16924159G/A位点多态性进行基因分型。用统计学方法分析其分布频率及组间差异。结果 rs4740840G/A存在AA、AG、GG三种基因型，分布频率分别为21.5%、46.3%、32.2%。其各基因型及等位基因频率在广西黑衣壮儿童、汉族儿童中分布差异有统计学意义（P<0.05）。广西黑衣壮儿童基因型和等位基因频率与人类基因组计划公布的欧洲人相比差异有统计学意义（P<0.01），与北京汉族人、日本人、非洲黑人相比差异无统计学意义（P>0.05）。rs16924159G/A存在AA、AG、GG三种基因型，分布频率分别为5.8%、34.7%、59.5%。其各基因型及等位基因频率在广西黑衣壮儿童、汉族儿童之间差异有统计学意义（P<0.01）。广西黑衣壮儿童基因型及等位基因分布频率与人类基因组计划公布的北京汉族、非洲黑人相比差异有统计学意义（P<0.05），与日本人、欧洲人相比差异无统计学意义（P>0.05）。结论 IL-33基因rs4740840G/A、rs16924159G/A在广西黑衣壮儿童分布存在多态性，同时还存在着不同程度的种族和地区差异。

【关键词】 IL-33；基因多态性；广西；黑衣壮；儿童；种族

中图分类号：R394.5 文献标识码：A DOI：10.3969/j.issn.1003-1383.2018.03.001

【Abstract】 Objective To explore the distribution characteristics of rs4740840G/A and rs16924159G/A polymorphisms of interleukin-33（IL-33） gene in Black-clothes Zhuang children in Guangxi and its comparison with different ethnic groups.Methods The polymorphisms of rs4740840G/A and rs16924159G/A of IL-33 gene in 251subjects（121Black-clothes Zhuang children and 130 Han children） was genotyped by improved multi-ligase detection reaction （im-LDR） technique.And distribution frequencies and differences were analyzed by statistical methods between groups.Results Three genotypes （AA，AG and GG） were found in rs4740840G/A with frequency of 21.5%，46.3% and 32.2%，respectively.The genotype and allele frequencies of rs4740840G/A showed statistically significant difference between Black-clothes Zhuang children and Han children in Guangxi（P<0.05）.The frequency of genotypes and alleles in the Black-clothes Zhuang children in Guangxi was statistically different from that of the Europeans published by Human Genome Project（P<0.01），but it was not statistically different from those of Beijing Han，Japanese and African（P>0.05）.Three genotypes（AA，AG and GG） were found in rs16924159G/A with frequency of 5.8%，34.7% and 59.5%，respectively.The genotype and allele frequencies of 16924159G/A showed statistically significant difference between Black-clothes Zhuang children and Han children in Guangxi（P<0.01）.The distribution frequency of genotypes and alleles in Black-clothes Zhuang children in Guangxi was statistically significant compared with those in Beijing Han and African published by the Human Genome Project（P<0.05），but there was no statistically significant difference between the Japanese and the Europeans（P>0.05）.Conclusion The distribution of rs4740840G/A and rs16924159G/A of IL-33 gene shows polymorphisms in Black-clothes Zhuang children in Guangxi，which exists varying degrees of racial and regional differences

【Key words】 IL-33；gene polymorphism；Guangxi；Black-clothes Zhuang；ethnic group

白细胞介素33（Interleukin-33，IL-33）是ST2的配体，属于IL-1家族中的新成员，于2005年被Schmitz等[1]发现。现已证实，IL-33/ST2信号通路与感染、哮喘、系统性硬化病、心肌梗死等疾病的发病机制相关联[2～5]。由于基因多态性在种族、民族和地域间存在差异，在不同的种族、民族和地域之间，很多疾病的发病率明显不同，虽然环境、生活习惯等因素在疾病的发生过程中起着一定的作用，但不同民族在遗传背景上的差异是导致疾病易感性不同的一个重要因素[6]。近年来，IL-33的基因多态性对疾病的影响逐渐被重视，如在强直性脊柱炎、冠心病、哮喘、阿尔茨海默病、系统性红斑狼疮、精神分裂症等均与IL-33单核苷酸多态性有关[7～12]。……