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SNP alleles in human disease and evolution.

Barkur S Shastry1

  • 1Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA. Barkur@aol.com

Journal of Human Genetics
|November 19, 2002
PubMed
Summary

Single-nucleotide polymorphisms (SNPs) are common DNA variations. While associated with disease susceptibility and drug response, their toxicological and pharmacological significance requires further investigation.

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Area of Science:

  • Genetics
  • Genomics
  • Human Biology

Background:

  • Human genomes share 99.9% DNA sequence identity.
  • The remaining 0.1% comprises sequence variations, most commonly single-nucleotide polymorphisms (SNPs).
  • SNPs are abundant, stable, and genome-wide, contributing to human diversity and individuality.

Purpose of the Study:

  • To explore the potential of SNPs in homogeneity testing and pharmacogenetic studies.
  • To investigate the role of SNPs in identifying and mapping complex common diseases.
  • To assess the toxicological and pharmacological significance of SNPs.

Main Methods:

  • Analysis of human genome sequences to identify variations.
  • Review of recent studies on SNP patterns in diseases like diabetes and schizophrenia.
  • Examination of the association between SNPs and disease susceptibility.

Main Results:

  • SNPs are linked to population diversity, individuality, disease susceptibility, and drug response.
  • Studies show SNP patterns in conditions such as diabetes, schizophrenia, and blood pressure homeostasis.
  • The toxicological and pharmacological significance of SNPs remains largely unknown.

Conclusions:

  • SNPs may offer insights into human sequence variation and disease.
  • Most complex diseases are likely multifactorial, involving genes and environment.
  • Sequence variation alone may not be sufficient for predicting disease risk, but SNPs can guide future research.

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