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 (203 Česká republika, garant), Kateřina KAŇKOVÁ (203 Česká republika), Petr BENEŠ (203 Česká republika), Lydie IZAKOVIČOVÁ HOLLÁ (203 Česká republika), Vladimír ZNOJIL (203 Česká republika), Dobroslav HÁJEK (203 Česká republika), Eva VLKOVÁ (203 Česká republika) a Jiří VÁCHA (203 Česká republika)

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

Kód RIV

RIV/00216224:14110/02:00005587

Organizační jednotka

Lékařská fakulta

UT WoS

000175272900004

Klíčová slova anglicky

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

Štítky

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

Změněno: 17. 6. 2009 12:42, 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{400431,
   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  - 400431
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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