Single Nucleotide Polymorphism (SNP)

Single Nucleotide Polymorphism (SNP) designates a DNA sequence variation where a single nucleotide differs between individuals at a specific genomic position, representing the most common type of genetic variation with millions of SNPs catalogued across the human genome. These variations may reside in coding regions potentially altering amino acid sequences, regulatory regions affecting gene expression, or non-coding regions with uncertain functional consequences. SNPs serve as genetic markers enabling genome-wide association studies linking genetic variation to disease susceptibility, drug responses, or other phenotypic traits.

The biopharmaceutical industry extensively utilises SNP analysis throughout discovery, development, and personalised medicine applications. Pharmacogenomics studies identify SNPs in drug-metabolising enzymes affecting clearance rates, with poor metaboliser genotypes requiring dose reductions. Drug target SNPs influence therapeutic responses, guiding patient selection for targeted therapies. GWAS identify disease-associated SNPs, revealing pathogenic mechanisms and potential therapeutic targets. HLA SNPs predict immune-mediated adverse reactions, enabling pre-treatment screening. Clinical trials incorporate SNP genotyping to examine pharmacogenomic relationships and support biomarker-driven development. Companion diagnostics detect actionable SNPs informing treatment selection, exemplified by EGFR mutation testing for targeted lung cancer therapies. As precision medicine advances and whole-genome sequencing becomes routine, SNP analysis increasingly informs development strategies and clinical practice through genetics-guided approaches.