Detailed Information on Publication Record
2002
Polymorphism R25P in the gene encoding Transforming Growth Factor-beta (TGF-b1) is a newly identified risk factor for proliferative diabetic retinopathy
BERÁNEK, Michal, Kateřina KAŇKOVÁ, Petr BENEŠ, Lydie IZAKOVIČOVÁ HOLLÁ, Vladimír ZNOJIL et. al.Basic information
Original name
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 (203 Czech Republic, guarantor), Kateřina KAŇKOVÁ (203 Czech Republic), Petr BENEŠ (203 Czech Republic), Lydie IZAKOVIČOVÁ HOLLÁ (203 Czech Republic), Vladimír ZNOJIL (203 Czech Republic), Dobroslav HÁJEK (203 Czech Republic), Eva VLKOVÁ (203 Czech Republic) and Jiří VÁCHA (203 Czech Republic)
Edition
American Journal of Medical Genetics, USA, John Wiley & Sons, Inc. 2002, 0148-7299
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
Genetics and molecular biology
Country of publisher
United States of America
Confidentiality degree
není předmětem státního či obchodního tajemství
Impact factor
Impact factor: 2.334
RIV identification code
RIV/00216224:14110/02:00005817
Organization unit
Faculty of Medicine
Keywords in English
polymorphism R25P; Transforming Growth Factor-beta; proliferative diabetic retinopathy
Změněno: 20/6/2009 21:05, prof. MUDr. Lydie Izakovičová Hollá, Ph.D.
Abstract
V originále
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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