title: Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus.
abstract: 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.
authors.affiliation: CNRS EP 10, Institut Pasteur de Lille, France.
authors.forename: E H
authors.initials: EH
authors.lastname: Hani
authors.forename: H
authors.initials: H
authors.lastname: Zouali
authors.forename: A
authors.initials: A
authors.lastname: Philippi
authors.forename: J C
authors.initials: JC
authors.lastname: Beaudoin
authors.forename: N
authors.initials: N
authors.lastname: Vionnet
authors.forename: P
authors.initials: P
authors.lastname: Passa
authors.forename: F
authors.initials: F
authors.lastname: Demenais
authors.forename: P
authors.initials: P
authors.lastname: Froguel
mesh_terms: D000483:Alleles; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000235:genetics; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005602:France; D008040:Genetic Linkage; D006006:Glycogen Synthase / Q000235:genetics; D006801:Humans; D055504:Insulin Receptor Substrate Proteins; D007333:Insulin Resistance / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics; D044465:White People
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; C526292:IRS1 protein, human; D055504:Insulin Receptor Substrate Proteins; D010750:Phosphoproteins; D006006:Glycogen Synthase; D010729:Phosphoenolpyruvate Carboxykinase (GTP)