Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

@article{Thomas2004CodingSP,
  title={Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.},
  author={Paul D. Thomas and Anish Kejariwal},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2004},
  volume={101 43},
  pages={15398-403}
}
Most Mendelian diseases studied to date arise from mutations that lead to a single amino acid change in an encoded protein. An increasing number of complex diseases have also been associated with amino acid-changing single-nucleotide polymorphisms (coding SNPs, cSNPs), suggesting potential similarities between Mendelian and complex diseases at the molecular level. Here, we use two different evolutionary analyses to compare Mendelian and complex disease-associated cSNPs. In the first, we… CONTINUE READING
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