Various studies have shown an association between single nucleotide
polymorphisms (SNPs) and common disease. We hypothesize that information
encoded in the structure of SNP haploblock variation illumines molecular
pathways and cellular mechanisms involved in the regulation of host adaptation
to the environment. We developed and utilized the normalized information
content (NIC), a novel metric based on SNP haploblock variation. We found that
all SNP haploblocks with statistically low information content contained
putative transcription factor binding sites and microRNA motifs. We were able
to translate a biophysical, mathematical measure of common variants into a
deeper understanding of the life sciences through analysis of biochemical
patterns associated with SNP haploblock variation. We submit that this new
metric, NIC, may be useful in decoding the functional significance of common
variation in the human genome and in analyzing the regulation of molecular
pathways involved in host adaptation to environmental pathogens.Comment: 13 page