重庆人群IL-1β启动子区-31、-511、-1470单核苷酸多态性位点间的连锁不平衡分析

目的　调查IL 1β启动子区 -3 1、-5 11、-14 70 3个单核苷酸多态性 (singlenucleotidepoly morphisms ,SNPs)的发生频率及是否存在连锁不平衡 (linkagedisequilibrium ,LD )关系。 方法　采用限制性片段长度多态性方法对重庆地区 112名健康个体IL 1β -3 1、-5 11、-14 70SNPs位点进行基因分型 ,应用软件TransposerV1 0对 3个SNPs位点进行LD分析及Pearsonχ2 检验 ,应用软件Arlequine计算单倍型频率及单倍型组成。结果　 10 7名重庆地区正常个体IL 1βC -3 1T、T -5 11C、G -14 70C 3个SNPs的发生频率分别是 45 .3 3 %、5 0 0 0 %及 41.67%。IL 1β启动子区 3个SNPs主要组成 3种单倍型 :T C G( 4 4 1% )、C T C( 4 0 3 % )和C T G( 8 8% )。通过对这 3个SNPs位点两两间进行LD分析 ,发现所有的LD参数 (Δ值 )都不为 0 ( χ2 检验 ,P <0 .0 0 5 )。结论　重庆地区人群IL 1β启动子区 -3 1、-5 11、-14 70 3个SNPs位点呈紧密的连锁不平衡。本研究结果为寻找与炎症等疾病相关单倍型奠定了基础。

Linkage disequilibrium analysis of -31, -511, -1470 single nucleotide polymorphisms in the promoter of IL-1β in Chongqing population

OBJECTIVE: To investigate the frequencies of -31, -511 and -1470 single nucleotide polymorphisms (SNPs) in the promoter of IL-1 beta in Chongqing population and address the question whether they are in linkage disequilibrium (LD). METHODS: One hundred and twelve healthy Chongqing people were enrolled in this study. Polymorphisms at -31 (C>T), -511 (T>C) and -1470 (G>C) of IL-1 beta were genotyped with the method of restriction fragment length polymorphism (RFLP). Haplotype frequencies were evaluated with Arlequine software. Two-point LD analyses were done with the software TransposerV1-0. The P values were determined by Pearson chi square test analysis. RESULTS: Allelic frequencies of IL-1 beta -31, -511 and -1470 were 45.33%, 50.00% and 41.67%, respectively. The dominant haplotypes comprising the three loci were T-C-G (44.1%), C-T-C(40.3%) and C-T-G(8.8%), LD analyses revealed that none of the LD parameters(delta value) was 0. Meanwhile, chi square test showed P<0.005. CONCLUSION: -31, -511 and -1470 loci in the promoter region of IL-1 beta are in strong linkage disequilibrium. And this study provides a basis for searching disease-related IL-1 beta haplotye.