Exp Clin Endocrinol Diabetes 2001; Vol. 109(3): 151-154
DOI: 10.1055/s-2001-14838
Articles

© Johann Ambrosius Barth

Association between the P12A and c1431t polymorphisms in the peroxisome proliferator activated receptor γ (PPARγ) gene and type 2 diabetes

D. Evans 1 , J. de Heer 1 , C. Hagemann 1 , D. Wendt 1 , A. Wolf 2 , U. Beisiegel 1 , W. A. Mann 3*
  • 1 Medizinische Klinik, Universitätskrankenhaus Eppendorf, Hamburg, Germany
  • 2 Klinik für Allgemeinchirurgie, Evangelisches und Johanniter Klinikum, Dinslaken, Germany
  • 3 Fachklinik für Innere Medizin, Bliestal Klinik, MediClin AG, Blieskastel, Germany
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Publication History

Publication Date:
31 December 2001 (online)

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Summary:

Variation in the peroxisome proliferator-activated receptor γ (PPARγ) gene may play a role in the development of type 2 diabetes mellitus. Therefore we investigated the association between the P12A and c1431t polymorphisms in the PPARγ gene and type 2 diabetes. The incidence of the P12A polymorphism was determined by PCR-RFLP and the c1431t by single-strand conformation polymorphism analysis in 219 patients with, and 429 without type 2 diabetes. The frequency of the A allele of P12A polymorphism was 0.16 and the t allele of c1431t polymorphism, 0.13 in patients with type 2 diabetes, and 0.13 and 0.12 respectively in subjects without diabetes. 3.2% of patients with and 1.4% without type 2 diabetes were A12A. Since the polymorphisms are not linked the association of the 9 possible genotypes with type 2 diabetes was determined. All patients with genotype A12A/c1431c had type 2 diabetes (n = 3, p = 0.038). There was no association between A12A/t1431t and diabetes. DNA sequencing revealed no additional mutations in the coding region of the PPARγ gene in genotypes A12A/c1431c or A12A/t1431t. The associations found between polymorphisms in the PPARγ gene and type 2 diabetes suggest that either the A12 isoform is functional leading to a predisposition to type 2 diabetes in homozygotes or that there is a third, unknown mutation linked to the A12/c1431 haplotype which is responsible.