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It has been proposed that type 1 and 2 diabetes might share common pathophysiological pathways and, to some extent, genetic background. However, to date there has been no convincing data to establish a molecular genetic link between them. We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large type 1 diabetic family collection of European descent: Gly972Arg in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor gamma2 gene (PPARG2). We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1 diabetes. Moreover, KCNJ11 Glu23Lys showed no association with type 1 diabetes (P > 0.05). However, the PPARG2 Pro12Ala variant showed evidence of association (RR 1.15, 95% CI 1.04-1.28, P = 0.008). Additional studies need to be conducted to confirm this result.

Original publication

DOI

10.2337/diabetes.53.3.870

Type

Journal article

Journal

Diabetes

Publication Date

03/2004

Volume

53

Pages

870 - 873

Keywords

Adult, Amino Acid Substitution, Canada, Child, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Europe, Female, Humans, Insulin Receptor Substrate Proteins, Male, Phosphoproteins, Polymorphism, Single Nucleotide, Potassium Channels, Inwardly Rectifying, Receptors, Cytoplasmic and Nuclear, Transcription Factors