Relations among serum ferritin, C282Y and H63D mutations in the
HFE gene and type 2 diabetes mellitus in the Czech population

J 2002

Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population

KAŇKOVÁ, Kateřina, Eugen HJM JANSEN, Ivana MÁROVÁ, Andrea STEJSKALOVÁ, Lukáš PÁCAL et. al.

Basic information

Original name

Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population

Name in Czech

Vztah mezi serovym feritinem, mutacemi C282Y a H63D v HFE genu a diabetem typu 2 v Ceske populaci

Authors

KAŇKOVÁ, Kateřina (203 Czech Republic, guarantor), Eugen HJM JANSEN (528 Netherlands), Ivana MÁROVÁ (203 Czech Republic), Andrea STEJSKALOVÁ (203 Czech Republic), Lukáš PÁCAL (203 Czech Republic), Jan MUŽÍK (203 Czech Republic) and Jiří VÁCHA (203 Czech Republic)

Edition

Experimental and Clinical Endocrinology & Diabetes, Germany, Thieme, 2002, 0947-7349

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30202 Endocrinology and metabolism

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.438

RIV identification code

RIV/00216224:14110/02:00005648

Organization unit

Faculty of Medicine

UT WoS

000177344600004

Keywords in English

ferritin; HFE gene; type 2 diabetes mellitus

Abstract

ORIG CZ

V originále

Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene causing hereditary hemochromatosis in patients with type 2 diabetes mellitus and non-diabetics, (ii) to investigate the relationship among HFE genotypes, serum ferritin and glucose intolerance and (iii) to assess possible association of HFE mutations with the susceptibility to develop late diabetic complications in the Czech population. Two approaches were employed - the case-control study comprising diabetics and non-diabetic controls (n=326) and the cross-sectional study comprising subjects with a previously unknown defect in glucose tolerance (n=113, oral glucose tolerance test performed in each subject). Allele frequencies of C282Y and H63D did not differ between diabetic and control groups nor among subjects with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and diabetes. Ferritin levels significantly differed between diabetic and non-diabetic women (P<1.10-3) and among subjects with NGT, IGT and diabetes (P<0.05). Differences in ferritin levels related to particular genotypes of C282Y and H63D were not detected. Prevalence of diabetes in the first and second quartiles of ferritin distribution differed highly significantly from the prevalence in the third and fourth quartiles in women (P=0.000037), OR=3.50 (95% CI, 1.89-6.48). The extent of diabetic late complications did not correlate with ferritin plasma levels.

In Czech

Zjistili jsme vyznamny rozdil mezi hladinami feritinu u zen diabeticek a nediabeticek. Alelicke frekvence obou studovanych SNP v HFE genu - C282Y a H63D - se nelisily mezi diabetiky a nediabetiky a rovnez hladiny feritinu u jednotlivych skupin podle nosicstvi mutaci v HFE genu nebyly statisticky vyznamne rozdilne.

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

Citovat

KAŇKOVÁ, Kateřina, Eugen HJM JANSEN, Ivana MÁROVÁ, Andrea STEJSKALOVÁ, Lukáš PÁCAL, Jan MUŽÍK and Jiří VÁCHA. Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population. Experimental and Clinical Endocrinology & Diabetes. Germany: Thieme, 2002, vol. 110, No 5, p. 223-229. ISSN 0947-7349.

@article{402719,
   author = {Kaňková, Kateřina and Jansen, Eugen HJM and Márová, Ivana and Stejskalová, Andrea and Pácal, Lukáš and Mužík, Jan and Vácha, Jiří},
   article_location = {Germany},
   article_number = {5},
   keywords = {ferritin; HFE gene; type 2 diabetes mellitus},
   language = {eng},
   issn = {0947-7349},
   journal = {Experimental and Clinical Endocrinology & Diabetes},
   title = {Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population},
   volume = {110},
   year = {2002}
}

TY  - JOUR
ID  - 402719
AU  - Kaňková, Kateřina - Jansen, Eugen HJM - Márová, Ivana - Stejskalová, Andrea - Pácal, Lukáš - Mužík, Jan - Vácha, Jiří
PY  - 2002
TI  - Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population
JF  - Experimental and Clinical Endocrinology & Diabetes
VL  - 110
IS  - 5
SP  - 223
EP  - 223
PB  - Thieme
SN  - 09477349
KW  - ferritin
KW  - HFE gene
KW  - type 2 diabetes mellitus
N2  - Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene causing hereditary hemochromatosis in patients with type 2 diabetes mellitus and non-diabetics, (ii) to investigate the relationship among HFE genotypes, serum ferritin and glucose intolerance and (iii) to assess possible association of HFE mutations with the susceptibility to develop late diabetic complications in the Czech population. Two approaches were employed - the case-control study comprising diabetics and non-diabetic controls (n=326) and the cross-sectional study comprising subjects with a previously unknown defect in glucose tolerance (n=113, oral glucose tolerance test performed in each subject). Allele frequencies of C282Y and H63D did not differ between diabetic and control groups nor among subjects with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and diabetes. Ferritin levels significantly differed between diabetic and non-diabetic women (P<1.10-3) and among subjects with NGT, IGT and diabetes (P<0.05). Differences in ferritin levels related to particular genotypes of C282Y and H63D were not detected. Prevalence of diabetes in the first and second quartiles of ferritin distribution differed highly significantly from the prevalence in the third and fourth quartiles in women (P=0.000037), OR=3.50 (95% CI, 1.89-6.48). The extent of diabetic late complications did not correlate with ferritin plasma levels.
ER  -

KAŇKOVÁ, Kateřina, Eugen HJM JANSEN, Ivana MÁROVÁ, Andrea STEJSKALOVÁ, Lukáš PÁCAL, Jan MUŽÍK and Jiří VÁCHA. Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population. \textit{Experimental and Clinical Endocrinology \&{} Diabetes}. Germany: Thieme, 2002, vol.~110, No~5, p.~223-229. ISSN~0947-7349.

Detailed Information on Publication Record