广州地区汉族儿童白细胞介素-6基因174位点及肿瘤坏死因子β基因NcoI位点多态性分析

Analysis of single nucleotide polymorphisms at IL-6-174 and TNF-β NcoI in Chinese Han children in Guangzhou, China

目的探讨白细胞介素-6(IL-6)基因(-174)位点及肿瘤坏死因子β(TNFβ)NcoI位点多态性在广州地区汉族儿童中的分布特征,为IL-6(-174)及TNFβNcoI位点多态性与全身炎症反应综合征(SIRS)的相关性研究提供基础资料。方法选取481名广州汉族儿童,采用等位基因特异性扩增多聚酶链(ASPCR)和聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)对IL-6(-174)及TNFβNcoI位点进行基因水平多态性分析,并结合文献进行了不同种族间的分析比较。结果广州地区汉族儿童群体IL-6(-174)位点基因型均为G/G,广州地区汉族人群该位点变异不属常见变异或不存在变异;TNFβNcoI位点有TNFβ1*1、TNFβ1*2、TNFβ2*2 3种基因型,频率分别为24.7%、49.7%和25.6%,样本分布符合Hardy-Weinberg平衡,TNFβ1等位基因分布频率较欧美白种人高,差异有统计学意义(P<0.05)。结论广州地区汉族人群TNFβNcoI位点多态性普遍存在,基因型分布特征与白种人存在差异。样本为Hardy-Weinberg平衡群体,可进一步用于广州地区汉族儿童SIRS的关联性分析。广州地区汉族人群IL-6(-174)位点多态性罕见或不存在,不宜选取该基因位点单核苷酸多态性作疾病的关联性分析。

Objective To investigate the single nucleotide polymorphisms （SNPs） at interleukin 6 （IL-6）-174 and TNF-β NcoI in Chinese Han children in Guangzhou, China and to provide basic information for study on the association between IL-6-174 and TNF-β NeoI polymorphisms and systemic inflammatory response syndrome （SIRS）. Methods Allele-specific polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism were used to determine the SNPs at IL-6-174 and TNF-β NcoI in 481 children selected from the Han population in Guangzhou in 2012. Genotype analysis and comparison with other populations were made with reference to relevant literature. Results Chinese Han children in Guangzhou had only GG genotype at IL-6-174, and the SNP at this locus was rare or not seen in the Han population in Guangzhou. At TNF-β NcoI, the frequencies of TNF-β 1＊ 1, TNF-β 1＊2, and TNF-β 2＊2 genotypes were 24.7%, 49.7%, and 25.6%, respectively. The sample distribution was in accordance with Hardy- Weinberg equilibrium. The TNF-β 1 allele frequency was significantly higher in Guangzhou Han population than in European and American white population （P〈0.05）. Conclusions TNF-β NcoI SNP is prevalent in the Han population in Guangzhou, and the distribution of alleles is significantly different from that in the white population. The sample from an Hardy-Weinberg equilibrium population can be further used for study on the association between TNF-β NcoI SNP and SIRS in Chinese Han children in Guangzhou. IL-6-174 SNP is rare or not seen in the Han population in Guangzhou, so SNP at this locus cannot be selected for disease association analysis.