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@article{403906,
author = {Beránek, Michal and Kaňková, Kateřina and Beneš, Petr and Izakovičová Hollá, Lydie and Znojil, Vladimír and Hájek, Dobroslav and Vlková, Eva and Vácha, Jiří},
article_location = {USA},
article_number = {4},
keywords = {polymorphism R25P; Transforming Growth Factor-beta; proliferative diabetic retinopathy},
language = {eng},
issn = {0148-7299},
journal = {American Journal of Medical Genetics},
title = {Polymorphism R25P in the gene encoding Transforming Growth Factor-beta (TGF-b1) is a newly identified risk factor for proliferative diabetic retinopathy},
volume = {109},
year = {2002}
}
TY - JOUR
ID - 403906
AU - Beránek, Michal - Kaňková, Kateřina - Beneš, Petr - Izakovičová Hollá, Lydie - Znojil, Vladimír - Hájek, Dobroslav - Vlková, Eva - Vácha, Jiří
PY - 2002
TI - Polymorphism R25P in the gene encoding Transforming Growth Factor-beta (TGF-b1) is a newly identified risk factor for proliferative diabetic retinopathy
JF - American Journal of Medical Genetics
VL - 109
IS - 4
SP - 278
EP - 278
PB - John Wiley & Sons, Inc.
SN - 01487299
KW - polymorphism R25P
KW - Transforming Growth Factor-beta
KW - proliferative diabetic retinopathy
N2 - 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.
ER -
BERÁNEK, Michal, Kateřina KAŇKOVÁ, Petr BENEŠ, Lydie IZAKOVIČOVÁ HOLLÁ, Vladimír ZNOJIL, Dobroslav HÁJEK, Eva VLKOVÁ and Jiří VÁCHA. Polymorphism R25P in the gene encoding Transforming Growth Factor-beta (TGF-b1) is a newly identified risk factor for proliferative diabetic retinopathy. \textit{American Journal of Medical Genetics}. USA: John Wiley \&{} Sons, Inc., 2002, vol.~109, No~4, p.~278-283. ISSN~0148-7299.
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