Polymorphisms in the RAGE gene influence susceptibility to
diabetes-associated microvascular dermatoses in NIDDM

J 2001

Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM

KAŇKOVÁ, Kateřina; Jiří ZÁHEJSKÝ; Ivana MÁROVÁ; Jan MUŽÍK; Viera KUHROVÁ et al.

Základní údaje

Originální název

Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM

Název česky

Polymorfizmy v RAGE genu ovlivnuji nachylnost k rozvoji dermatoz asociovanych s diabetem u NIDDM

Autoři

KAŇKOVÁ, Kateřina; Jiří ZÁHEJSKÝ; Ivana MÁROVÁ; Jan MUŽÍK; Viera KUHROVÁ; Michaela BLAŽKOVÁ; Vladimír ZNOJIL; Michal BERÁNEK a Jiří VÁCHA

Vydání

Journal of Diabetes and its Complications, USA, Elsvier Science, 2001, 1056-8727

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: 0.931

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/01:00002726

Organizační jednotka

Lékařská fakulta

UT WoS

000170051200004

Změněno: 22. 2. 2005 09:42, prof. MUDr. Kateřina Kaňková, Ph.D.

Anotace

ORIG CZ

V originále

To examine genetic polymorphism in the complete sequence of the Receptor of Advanced Glycation End products (RAGE) gene and its possible associations with diabetes-associated microvascular dermatoses (DAMD). Further, to analyze the distribution of individual genotype combinations on the particular polymorphic loci in the RAGE gene. A part of the RAGE gene spanning a region from -4 to 3334 bp was analysed on a set of 45 subjects with non-insulin dependent diabetes mellitus (NIDDM) and parallel DAMD by means of PCR with subsequent heteroduplex and single-strand conformation polymorphism analyses. Allele frequencies and genotype combinations of novel common polymorphisms were determined in an associations study comprising four groups of subjects (n=390). Fourteen novel polymorphisms (R77C, V89V, 718G/T, 1704G/T, 1727A1728ins, H305Q, S307C, 2117A/G, 2184A/G, 2245G/A, 2249A/G, 2741G/A and 3089ACdel) and one described previously (G82S) were identified. Significant association with microvascular dermatoses irrespective of NIDDM were found for exon mutation 82S (P=0.004, after a correction for the number of comparisons Pcorr<0.05) and marginally significant for intron variant 1704T (P=0.032, Pcorr>0.05). Calculated odds ratios for 82S and 1704T were 4.73 (95% CI, 1.51 to 14.77) and 1.73 (95% CI, 0.93 to 3.22), respectively. Certain individual genotype combinations of G82S, 1704G/T and 2184A/G were significantly associated with the presence of microvascular dermatoses (P=0.00647) both in diabetic and non-diabetic study populations. The two novel polymorphisms (1704G/T and 2184A/G) together with the G82S were shown to influence the susceptibility to microvascular dermatoses independent of diabetes itself.

Česky

Zjistili jsme, ze nove popsane polymorfizmy v RAGE genu ovlivnuji nachylnost k rozvoji dermatoz asociovanych s diabetem u NIDDM.

Návaznosti

MSM 141100002, záměr

Název: Molekulární patofyziologie multigenních chorob

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

VS96097, projekt VaV

Název: Molekulární patofyziologie vybraných "civilizačních", multigenně podmíněných chorob

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární patofyziologie vybraných "civilizačních", multigenně podmíněných chorob

Citovat

KAŇKOVÁ, Kateřina; Jiří ZÁHEJSKÝ; Ivana MÁROVÁ; Jan MUŽÍK; Viera KUHROVÁ; Michaela BLAŽKOVÁ; Vladimír ZNOJIL; Michal BERÁNEK a Jiří VÁCHA. Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM. Journal of Diabetes and its Complications. USA: Elsvier Science, 2001, roč. 4, č. 15, s. 185-192. ISSN 1056-8727.

@article{345892,
   author = {Kaňková, Kateřina and Záhejský, Jiří and Márová, Ivana and Mužík, Jan and Kuhrová, Viera and Blažková, Michaela and Znojil, Vladimír and Beránek, Michal and Vácha, Jiří},
   article_location = {USA},
   article_number = {15},
   language = {eng},
   issn = {1056-8727},
   journal = {Journal of Diabetes and its Complications},
   title = {Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM},
   volume = {4},
   year = {2001}
}

TY  - JOUR
ID  - 345892
AU  - Kaňková, Kateřina - Záhejský, Jiří - Márová, Ivana - Mužík, Jan - Kuhrová, Viera - Blažková, Michaela - Znojil, Vladimír - Beránek, Michal - Vácha, Jiří
PY  - 2001
TI  - Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM
JF  - Journal of Diabetes and its Complications
VL  - 4
IS  - 15
SP  - 185
EP  - 185
PB  - Elsvier Science
SN  - 10568727
N2  - To examine genetic polymorphism in the complete sequence of the Receptor of Advanced Glycation End products (RAGE) gene and its possible associations with diabetes-associated microvascular dermatoses (DAMD). Further, to analyze the distribution of individual genotype combinations on the particular polymorphic loci in the RAGE gene. A part of the RAGE gene spanning a region from -4 to 3334 bp was analysed on a set of 45 subjects with non-insulin dependent diabetes mellitus (NIDDM) and parallel DAMD by means of PCR with subsequent heteroduplex and single-strand conformation polymorphism analyses. Allele frequencies and genotype combinations of novel common polymorphisms were determined in an associations study comprising four groups of subjects (n=390). Fourteen novel polymorphisms (R77C, V89V, 718G/T, 1704G/T, 1727A1728ins, H305Q, S307C, 2117A/G, 2184A/G, 2245G/A, 2249A/G, 2741G/A and 3089ACdel) and one described previously (G82S) were identified. Significant association with microvascular dermatoses irrespective of NIDDM were found for exon mutation 82S (P=0.004, after a correction for the number of comparisons Pcorr<0.05) and marginally significant for intron variant 1704T (P=0.032, Pcorr>0.05). Calculated odds ratios for 82S and 1704T were 4.73 (95% CI, 1.51 to 14.77) and 1.73 (95% CI, 0.93 to 3.22), respectively. Certain individual genotype combinations of G82S, 1704G/T and 2184A/G were significantly associated with the presence of microvascular dermatoses (P=0.00647) both in diabetic and non-diabetic study populations. The two novel polymorphisms (1704G/T and 2184A/G) together with the G82S were shown to influence the susceptibility to microvascular dermatoses independent of diabetes itself.
ER  -

KAŇKOVÁ, Kateřina; Jiří ZÁHEJSKÝ; Ivana MÁROVÁ; Jan MUŽÍK; Viera KUHROVÁ; Michaela BLAŽKOVÁ; Vladimír ZNOJIL; Michal BERÁNEK a Jiří VÁCHA. Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM. \textit{Journal of Diabetes and its Complications}. USA: Elsvier Science, 2001, roč.~4, č.~15, s.~185-192. ISSN~1056-8727.

Přehled o publikaci