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

J 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.

Základní údaje

Originální název

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

Autoři

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

Vydání

American Journal of Medical Genetics, USA, John Wiley & Sons, Inc. 2002, 0148-7299

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.334

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/02:00005817

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

polymorphism R25P; Transforming Growth Factor-beta; proliferative diabetic retinopathy

Štítky

polymorphism R25P, proliferative diabetic retinopathy, Transforming Growth Factor-beta

Změněno: 20. 6. 2009 21:05, prof. MUDr. Lydie Izakovičová Hollá, Ph.D.

Anotace

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.

Návaznosti

MSM 141100002, záměr

Název: Molekulární patofyziologie multigenních chorob

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární patofyziologie multigenních chorob

Citovat

BERÁNEK, Michal; Kateřina KAŇKOVÁ; Petr BENEŠ; Lydie IZAKOVIČOVÁ HOLLÁ; Vladimír ZNOJIL; Dobroslav HÁJEK; Eva VLKOVÁ a Jiří VÁCHA. Polymorphism R25P in the gene encoding Transforming Growth Factor-beta (TGF-b1) is a newly identified risk factor for proliferative diabetic retinopathy. American Journal of Medical Genetics. USA: John Wiley & Sons, Inc., 2002, roč. 109, č. 4, s. 278-283. ISSN 0148-7299.

@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 a 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, roč.~109, č.~4, s.~278-283. ISSN~0148-7299.

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