Publication details

Polymorphism R25P in the gene encoding Transforming Growth Factor-beta (TGF-b1) is a newly identified risk factor for proliferative diabetic retinopathy

Authors

BERÁNEK Michal KAŇKOVÁ Kateřina BENEŠ Petr IZAKOVIČOVÁ HOLLÁ Lydie ZNOJIL Vladimír HÁJEK Dobroslav VLKOVÁ Eva VÁCHA Jiří

Year of publication 2002
Type Article in Periodical
Magazine / Source American Journal of Medical Genetics
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords polymorphism R25P; Transforming Growth Factor-beta; proliferative diabetic retinopathy
Description Association of the genetic polymorphisms in the promoter region and the signal peptide sequence of the transforming growth factor-beta (TGF-ß1) gene with proliferative diabetic retinopathy (PDR) in patients with non-insulin dependent diabetes mellitus (NIDDM) were studied. A total of 245 Caucasian subjects comprised the two groups: NIDDM patients with PDR (n=73) and NIDDM patients without PDR (n=172). Allele frequencies of common TGF-ß1 polymorphisms (at positions -988C/A, -800G/A, -509C/T, +869T/C (L10P) and +915G/C (R25P)) were determined by polymerase chain reaction based methodology. All polymorphisms were in strong linkage disequilibrium (P<10-2). Significantly higher frequencies of both the L allele and the R allele of the signal sequence polymorphisms in PDR subjects were found (after a correction for multiple comparisons Pcorr<10-2 and Pcorr<10-4, respectively). Calculated odds ratios for the LL and RR genotypes were 2.89 (95% CI, 1.6-5.1) and 19.73 (95% CI, 2.6-146.8), respectively. No significant differences between groups were found for the -800G/A and - 509C/T polymorphisms. The - 988A allele was not represented in our sample. Multiple logistic regression identified age, diabetes duration and R25P polymorphism as a significant predictors (P=0.002, P=0.000003, P= 0.007, respectively). The frequencies of genotype combinations of the -800G/A, -509C/T, L10P and R25P TGF-ß1 polymorphisms were significantly different between the PDR and non-PDR groups (?2=37.83, df=20, P<10-2). Frequency of haplotype consisting of majority alleles was found significantly associated with PDR (P<0.03). The presented data indicate that the R25P polymorphisms in the TGF-ß1 gene could be regarded as a strong genetic risk factor for PDR.
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