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The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes

Abstract

OBJECTIVE: Peroxisome-proliferator-activated receptors γ (PPAR γ), is a key regulator of adipocyte differentiation and energy balance. Two naturally occurring mutations in the PPAR γ gene, Pro115Gln and Pro12Ala, have recently been shown to impair the function of the PPARγ2 isoform of the receptor and to be associated with obesity or diabetes- related phenotypes in different populations.

SUBJECTS: We studied the occurrence and possible associations of the Pro115Gln and Pro12Ala in the PPAR γ2 gene with several clinical and metabolic phenotypes in three independent large populations of non-obese non-diabetic, type 2 diabetic, and morbidly obese French Caucasians.

RESULTS: The Pro115Gln mutation was not found in any of the 1069 subjects screened including 626 obese patients. The frequency of the Pro12Ala mutation was similar in all groups (0.08, 0.11,0.09) and was not associated with BMI or any of the clinical parameters tested.

CONCLUSIONS: We conclude that the Pro115Gln mutation is not a frequent cause of morbid obesity in Caucasians and that the Pro12Ala mutation is not associated with clinically significant changes in these populations.

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Acknowledgements

Informed consents were obtained for all subjects and the protocols were approved by the Ethics Committee of Paris (CCPPRB Hôtel-Dieu and Cochin). This work was supported by the Direction de la Recherche Clinique/Assistance Publique-Hopitaux de Paris, Programme Hospitalier de Recherche Clinique (PHRC no. AOM 96088) and the Danone Institute (Danone/Suvimax DNA Bank). We thank Genevieve Bonhomme and Annie Legal for their excellent technical help. We also thank M. Ristow who kindly provided a mutated PPARγ2 cDNA plasmid

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Correspondence to K Clement.

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Clement, K., Hercberg, S., Passinge, B. et al. The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes. Int J Obes 24, 391–393 (2000). https://doi.org/10.1038/sj.ijo.0801191

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