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 (203 Česká republika), Jiří ZÁHEJSKÝ (203 Česká republika), Ivana MÁROVÁ (203 Česká republika), Jan MUŽÍK (203 Česká republika), Viera KUHROVÁ (203 Česká republika), Michaela BLAŽKOVÁ (203 Česká republika), Vladimír ZNOJIL (203 Česká republika), Michal BERÁNEK (203 Česká republika) a Jiří VÁCHA (203 Česká republika)

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

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.

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