复杂性疾病遗传研究中Tag SNP的筛选及其潜在功能预测

Screening of Tag SNPs and prediction of their potential function in genetic studies of complex diseases

利用公共数据库筛选与复杂性疾病相关的单核苷酸多态性(single nucleotide polymorphism,SNP)。运用FastSNP、SNP Function Prediction、F-SNP等多种SNP功能预测软件筛选有潜在功能的SNPs;通过HapMap等数据库筛选Tag SNP;综合比较各软件结果。以IGFBP 7基因为例,筛选转录因子结合位点SNPs 11个,内含子增强子31个,内含子增强子和转录因子结合位点4个,剪接位点1个,共47个SNPs。

We applied public databases of single nucleotide polymorphism(SNP) to screen complex disease-related SNPs and assessed the potential functions of selected SNPs through SNP function prediction software,including FastSNP,SNP Function Prediction,F-SNP.We selected Tag SNP in HapMap database and compared all results with above software.With above strategies we screened IGFBP7 gene and obtained total 47 SNPs,including 11 TFBS SNPs,31 intronic enhancer SNPs,4 intronic enhancer and TFBS SNPs and 1 splicing sites SNPs.