Parameters for reliable results in genetic association studies in common disease

Nat Genet. 2002 Feb;30(2):149-50. doi: 10.1038/ng825. Epub 2002 Jan 22.


It is increasingly apparent that the identification of true genetic associations in common multifactorial disease will require studies comprising thousands rather than the hundreds of individuals employed to date. Using 2,873 families, we were unable to confirm a recently published association of the interleukin 12B gene in 422 type I diabetic families. These results emphasize the need for large datasets, small P values and independent replication if results are to be reliable.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3' Untranslated Regions
  • Databases, Genetic
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Genetics, Population
  • Humans
  • Interleukin-12 / genetics
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide


  • 3' Untranslated Regions
  • Interleukin-12