Revista de Hígado: enfermedades y trasplantes

Defining Single Nucleotide Polymorphic (SNP) Variants Role of Human Angiotensinogen in Liver Fibrosis

Rais A. Ansari

Defining Single Nucleotide Polymorphic (SNP) Variants Role of Human Angiotensinogen in Liver Fibrosis

The sequencing of human genome has lead to define the variations among individuals, which is quite astonishing. With the advent of single nucleotide variants among genes, that is believed to be present in every 1.0 kb in human genome, determining the effects of these variants on biological process has been a daunting task. Utilizing the modern molecular biological techniques, the role(s) of the SNPs in promoter elements has been defined in several genes. However, the SNPs, which are part of the coding sequences of genes, have been difficult to define. Models to define the messenger RNA stability (Mfold analysis) have been developed. However, such a correlation in terms of end product as protein is still confusing. A number of attempts have been made to decipher the gene function of individual SNP variant, what is referred as “allelic expression variant” of haplotype as compared to wild type. In this context it is noteworthy that allelic variants have found to possess different activities.