The Newfoundland population: a unique resource for genetic investigation of complex diseases

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R167-72. doi: 10.1093/hmg/ddg257. Epub 2003 Aug 5.


The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic disorders. The Newfoundland population, like that of other isolates, is now the focus of interest for identification of genes implicated in common diseases. However, the utility of such populations for this purpose remains unproven. In this paper, we review the current genetic architecture of the province, with respect to geographic isolation, homogeneity, founder effect, genetic drift and extended linkage disequilibrium. Based on these factors, we propose that the population of Newfoundland offers many advantages for genetic mapping of common diseases, compared with admixed populations, and even compared with other isolates.

Publication types

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

MeSH terms

  • Founder Effect
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Linkage Disequilibrium
  • Newfoundland and Labrador