Potential regulatory SNPs in promoters of human genes: a systematic approach

Mol Cell Probes. 2006 Dec;20(6):348-58. doi: 10.1016/j.mcp.2006.03.007. Epub 2006 May 6.


Single nucleotide polymorphisms (SNPs) can significantly contribute to the cellular level of the mRNA transcripts encoded by human disease related genes. DNA variations between individuals can be an indication of predisposition to disease or affect the response to treatment. An algorithm allowing in silico extraction of SNPs with the high probability of influencing the level of gene expression is highly desirable. We performed a whole-genome analysis of SNP markers in regulatory areas of the human genes. Computational criteria were applied to predict an influence of the nucleotide replacement on the individual gene's expression. We formed a list of 14127 regulatory SNPs corresponding to 8555 regulatory areas suitable for future association studies. A catalogue of 1859 SNP entries, confirmed by analysis in populations, and allocated to 1607 human regulatory areas was created. We also revealed 13 cases of overlapped promoters corresponding to the human genes transcribed from opposite DNA strands and containing the regulatory SNP markers validated in populations. A population-validated set of regulatory SNP markers is organized in a database available in open access as a Supplementary file and by

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Databases, Genetic
  • Gene Expression Profiling
  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Genome, Human*
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic*
  • Regulatory Sequences, Nucleic Acid*
  • Sequence Analysis, DNA / methods*


  • Genetic Markers