Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes

Diabetes. 1999 Dec;48(12):2475-9. doi: 10.2337/diabetes.48.12.2475.

Abstract

The transmission disequilibrium test with use of trios (an affected proband with both parents) is a robust method for assessing the role of gene variants in disease that avoids the problem of population stratification that may confound conventional case/control studies and allows the detection of parent-of-origin effects. Trios have played a major role in defining genes in a number of polygenic conditions, including type 1 diabetes. We assessed the prevalence, clinical characteristics, and suitability for defining type 2 susceptibility genes of European type 2 diabetes trios. In a Caucasian population in the U.K., only 2.5% of type 2 patients had both parents alive. Using a nationwide strategy, we collected 182 trios defined by strict clinical criteria. Immunological and genetic testing resulted in the exclusion of 25 trios as a result of latent autoimmune diabetes (n = 13), inconsistent family relationships (n = 7), and maternally inherited diabetes and deafness (n = 5). The 157 remaining probands had similar treatment requirements to familial type 2 diabetic subjects but presented at a younger age, were more obese, and more frequently had affected parents. Using this resource, we have not found any evidence for linkage disequilibrium between type 2 diabetes and the glucokinase gene markers GCK1 and GCK2 and the chromosome 20 marker D20S197. We conclude that European type 2 diabetes trios are difficult to collect but provide an important additional approach to dissecting the genetics of type 2 diabetes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autoantibodies / blood
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 2 / epidemiology
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / immunology
  • Europe
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Predisposition to Disease / genetics*
  • Glutamate Decarboxylase / immunology
  • Humans
  • Linkage Disequilibrium
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Nuclear Family*
  • Prevalence
  • Risk
  • United Kingdom
  • White People / genetics*

Substances

  • Autoantibodies
  • Glutamate Decarboxylase