Genetic polymorphisms and implications for human diseases

J Med Assoc Thai. 2007 Feb;90(2):394-8.


After the sequencing of the human genome is done, enormous genomic information and high-throughput 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 potential to provide better understanding of genetic factors in human health and disease, as well as more-precise definitions of the non-genetic factors involved.

MeSH terms

  • Genetic Diseases, Inborn / genetics*
  • Genome, Human
  • Humans
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide*
  • Thalassemia / genetics