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.

Basic information

Original name

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

Name in Czech

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

Authors

KAŇKOVÁ, Kateřina (203 Czech Republic), Jiří ZÁHEJSKÝ (203 Czech Republic), Ivana MÁROVÁ (203 Czech Republic), Jan MUŽÍK (203 Czech Republic), Viera KUHROVÁ (203 Czech Republic), Michaela BLAŽKOVÁ (203 Czech Republic), Vladimír ZNOJIL (203 Czech Republic), Michal BERÁNEK (203 Czech Republic) and Jiří VÁCHA (203 Czech Republic)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 0.931

RIV identification code

RIV/00216224:14110/01:00002726

Organization unit

Faculty of Medicine

UT WoS

000170051200004

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

Abstract

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.

In Czech

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

Links

MSM 141100002, plan (intention)

Name: Molekulární patofyziologie multigenních chorob

Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases

VS96097, research and development project

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

Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of selected multigenic related to civilization diseases

Citovat

KAŇKOVÁ, Kateřina, Jiří ZÁHEJSKÝ, Ivana MÁROVÁ, Jan MUŽÍK, Viera KUHROVÁ, Michaela BLAŽKOVÁ, Vladimír ZNOJIL, Michal BERÁNEK and 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, vol. 4, No 15, p. 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 and 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, vol.~4, No~15, p.~185-192. ISSN~1056-8727.

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