Use and Importance
Variations in the DNA sequences of humans can affect how humans develop diseases and respond to pathogens, chemicals, drugs, vaccines, and other agents. SNPs are also thought to be key enablers in realizing the concept of personalized medicine. However, their greatest importance in biomedical research is for comparing regions of the genome between cohorts (such as with matched cohorts with and without a disease) in genome-wide association studies.
The study of SNPs is also important in crop and livestock breeding programs (see genotyping). See SNP genotyping for details on the various methods used to identify SNPs.
They are usually biallelic and thus easily assayed. A single SNP may cause a Mendelian disease. For complex diseases, SNPs do not usually function individually, rather, they work in coordination with other SNPs to manifest a disease condition as has been seen in osteoporosis.
As of 26 June 2012 (2012 -06-26), dbSNP listed 187,852,828 SNPs in humans.
Recent discovery of SNP in genome-wide association (GWA) studies to revolutionize not only the process of genetic variation and disease detection but also the convention of preventative and curative medicine for future prospects. The human complex traits as a matter of fact, show variation with SNPs having adverse effects on drug exposure which could be lethal. Many SNPs have been explored as a high-resolution marker for accelerating the pace of gene mapping related to diseases or traits. The GWA–SNPs have been studied in different human populations and their quantification for population structure within and between the populations has been attempted for association studies. The multitude of SNPs help in understanding gene pharmacokinetic (PK) or pharmacodynamic (PD) pathways. The association of a wide range of human diseases like cancer, infectious diseases (AIDS, leprosy, hepatitis, etc.) autoimmune, neuropsychiatric and many other diseases with different SNPs can be made as relevant pharmacogenomic targets for drug therapy.
Read more about this topic: Single-nucleotide Polymorphism
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