What are SNPs, and why are they important in clinical practice?
SNPs, or single nucleotide polymorphisms, are the most common type of genetic variation. They occur when a single nucleotide (one of the basic structural units of DNA, represented by the letters A, T, C, and G) is replaced with another at a specific position in the genome. This small change in the genetic code can alter how a gene functions by influencing how it is transcribed into RNA or translated into proteins, or by affecting regulatory regions that control gene expression. While many SNPs have no impact on health, others can influence how genes function and, in turn, affect various biological processes such as detoxification, methylation, neurotransmitter synthesis, or hormone metabolism.
For example, an SNP in the MTHFR gene may result in reduced enzyme activity, impairing the body’s ability to process folate and methylate DNA. Similarly, SNPs in the COMT gene can affect dopamine and estrogen metabolism, influencing mood, stress response, and hormonal balance.
