Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus

Diabetes Metab. 1996 Dec;22(6):451-4.


There is strong evidence that non-insulin-dependent-diabetes mellitus (NIDDM) has a polygenic mode of inheritance. Nevertheless, major gene effects may be involved in its pathogenesis, especially in forms with an early age of onset. We performed linkage analyses between 4 candidate genes for insulin resistance and NIDDM in a set of 55 multigenerational French Caucasian families, using the affected sib-pair approach. No significant results were obtained with glycogen synthase (GSY), insulin receptor substrate-1 (IRS-1) and apolipoprotein C-II (APOC-II) genes. However, a significant trend towards linkage was found between NIDDM and the phosphoenolpyruvate carboxykinase gene (PCK1) located on chromosome 20q (p = 0.005 for the mean estimated proportion of alleles shared identically by descent, mean IBD = 0.55), particularly among sib-pairs with diabetes diagnosed before the age of 46 years (p = 0.0003, mean IBD = 0.66). These results suggest that the PCK1 gene or a nearby locus contributes to the development of NIDDM in the French population.

Publication types

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

MeSH terms

  • Alleles
  • Apolipoprotein C-II
  • Apolipoproteins C / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 20*
  • Diabetes Mellitus, Type 2 / enzymology
  • Diabetes Mellitus, Type 2 / genetics*
  • European Continental Ancestry Group
  • Female
  • France
  • Genetic Linkage*
  • Glycogen Synthase / genetics
  • Humans
  • Insulin Receptor Substrate Proteins
  • Insulin Resistance / genetics
  • Male
  • Middle Aged
  • Pedigree
  • Phosphoenolpyruvate Carboxykinase (GTP) / genetics*
  • Phosphoproteins / genetics


  • Apolipoprotein C-II
  • Apolipoproteins C
  • IRS1 protein, human
  • Insulin Receptor Substrate Proteins
  • Phosphoproteins
  • Glycogen Synthase
  • Phosphoenolpyruvate Carboxykinase (GTP)