Summary
The peroxisome proliferator-activated receptor-γ
2 (PPARγ
2 ) represents the transcriptional master regulator of adipocyte differentiation and
therefore has been suggested as candidate gene for the pathogenesis of obesity, type
2 diabetes and related metabolic disorders. Aim of our study was to determine the
frequency of a missense point mutation within exon 2 of PPARγ
2 , Pro12Ala, and its possible association with metabolic parameters as well as diabetic
retinopathy (in a population-based sample of 560 (318 male ad 242 female) type 2 diabetic
patients. Subsequent to genomic PCR amplification, the Hpa-II RFLP analysis was used
for genotyping. Results: 436 (77.9%) subjects were homozygous for the wildtype allele (Pro/Pro), 118 (21.1%)
were heterozygous (Pro/Ala) and 6 (1.1%) were homozygous for the mutated allele (Ala/Ala).
Genotype frequency was calculated to be 0.81 for the wildtype and 0.19 for the mutated
allele. These frequencies did not differ from non-diabetic cohorts examined earlier.
In contrast to females, total cholesterol and LDL-cholesterol were significantly higher
in males (Total cholesterol: 281.8 ± 51.3 vs 253.1 ± 49.8 mg/dl, p < 0.0001; LDL-cholesterol:
182.0 ± 49.2 vs 155.6 ± 42.0 mg/d, p < 0.0001) in the presence of the mutated allele
as compared to the wildtype subgroup. No differences were found with respect to BMI,
HbA1c, blood pressure and serum levels of leptin nor to prevalence of retinopathy.
Pro12Ala polymorphism of PPARγ
2 gene is not associated with diabetic retinopathy but is associated with dyslipidemia
in male type 2 diabetic patients.
Key words:
PPARγ
- Polymorphism - Adipocyte - Type 2 diabetes - Lipid metabolism
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MD Bettina Zietz
Klinik und Poliklinik für Innere Medizin I
D-93042 Regensburg
Germany
Phone: +49-941-944-7009
Fax: +49-941-944-7019
Email: bettina.zietz@klinik.uni-regensburg.de