PMID- 12601293
OWN - NLM
STAT- MEDLINE
DCOM- 20030418
LR  - 20161124
IS  - 1234-1010 (Print)
IS  - 1234-1010 (Linking)
VI  - 9
IP  - 2
DP  - 2003 Feb
TI  - A search for association between hereditary hemochromatosis HFE gene mutations 
      and type 2 diabetes mellitus in a Polish population.
PG  - BR91-5
AB  - BACKGROUND: Hereditary hemochromatosis (HH) is characterized by excess iron 
      deposition. Two mutations in the HFE gene are associated with HH. Heterozygous 
      carriers of HFE mutations are at higher risk of developing type 2 diabetes 
      mellitus (T2DM). The aims of our project were to identify the frequency of C282Y 
      and H63D mutations in a population from the Malopolska region of south-eastern 
      Poland, and to search for an association of HFE mutations with T2DM. 
      MATERIAL/METHODS: We included 391 individuals in this study: 222 T2DM patients 
      and 169 controls. Genotypes were determined by electrophoresis of the DNA 
      digestion products from SnaBI and DpnII, respectively. Differences in 
      distributions between the groups were then analyzed by the chi-squared test. 
      RESULTS: The frequency of wild/C282Y alleles was 98.2%/1.8% in T2DM patients and 
      96.7%/3.2% in controls (p=0.19). The frequency of wild/H63D alleles was 
      85.6%/14.4% and 88.8%/11.2% (p= 0.19), respectively. The distribution of 
      genotypes was not statistically different. However, in stratified analyses based 
      on age of T2DM onset and gender, we observed a higher prevalence of wild/H63D and 
      H63D/H63D genotypes among T2DM patients diagnosed at > 49 years of age, the mean 
      age for the entire group (p=0.018), and among male T2DM individuals (p=0.005) 
      than in controls. CONCLUSIONS: The frequency of HH-associated mutations in this 
      population from south-eastern Poland is similar to other Caucasians. We found no 
      evidence for the association of the C282Y mutation with T2DM. The results do 
      suggest, however, that the H63D mutation may play a role in the pathogenesis of 
      late onset T2DM and in males in this Polish population.
FAU - Malecki, Maciej T
AU  - Malecki MT
AD  - Department of Metabolic Diseases, Medical College, Jagellonian University, 
      Cracow, Poland. mmalecki@cm-uj.krakow.pl
FAU - Klupa, Tomasz
AU  - Klupa T
FAU - Walus, Malgorzata
AU  - Walus M
FAU - Czogala, Wojciech
AU  - Czogala W
FAU - Greenlaw, Paul
AU  - Greenlaw P
FAU - Sieradzki, Jacek
AU  - Sieradzki J
LA  - eng
GR  - 1 R03 TW01351-01/TW/FIC NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Med Sci Monit
JT  - Medical science monitor : international medical journal of experimental and 
      clinical research
JID - 9609063
RN  - 0 (HFE protein, human)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Case-Control Studies
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - Hemochromatosis/genetics
MH  - Hemochromatosis Protein
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - *Point Mutation
MH  - Poland
EDAT- 2003/02/26 04:00
MHDA- 2003/04/19 05:00
CRDT- 2003/02/26 04:00
PHST- 2003/02/26 04:00 [pubmed]
PHST- 2003/04/19 05:00 [medline]
PHST- 2003/02/26 04:00 [entrez]
AID - 2914 [pii]
PST - ppublish
SO  - Med Sci Monit. 2003 Feb;9(2):BR91-5.