Genetic Polymorphisms and Implications for Human Diseases
Orapan Sripichai PhD*, Suthat Fucharoen MD*
Affiliation : * Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Phutthamonthon, Nakhonpathom
After the sequencing of the human genome is done, enormous genomic information and high-through-
put profiling technologies are used. Increased attention has been paid to applying this knowledge to get
better understanding of inherited diseases and complex disorders. Single nucleotide polymorphisms (SNPs)
are DNA sequence variations that occur when a single nucleotide in the genome sequence is altered. SNPs are
an important tool for the study of the human genome. Application of SNPs analysis to human disease permits
exploration of the influence of genetic polymorphisms on disease susceptibility, drug sensitivity/resistance,
and ultimately health care. Databases of SNPs provide a powerful resource for association studies that try to
establish a relationship between a phenotype and regions of the genome.
Genomic approaches have garnered so much attention and investment because they offer the poten-
tial to provide better understanding of genetic factors in human health and disease, as well as more-precise
definitions of the non-genetic factors involved.
Keywords : SNPs, Single nucleotide polymorphism, Association studies
