PMID- 15990686
OWN - NLM
STAT- MEDLINE
DCOM- 20050825
LR  - 20061115
IS  - 1234-1010 (Print)
IS  - 1234-1010 (Linking)
VI  - 11
IP  - 7
DP  - 2005 Jul
TI  - Hemochromatosis-causing mutations C282Y and H63D are not risk factors for 
      atherothrombotic cerebral infarction.
PG  - BR248-52
AB  - BACKGROUND: It has been suggested that iron metabolism may be involved in the 
      pathogenesis of atherothrombotic cerebral infarction (ACI). The C282Y and H63D 
      mutations in the hemochromatosis (HFE) gene are associated with increased serum 
      iron levels and net iron accumulation. The aim of this study was to test the 
      hypothesis that the C282Y and H63D mutations in the HFE gene are risk factors for 
      ACI in a Slovene population. MATERIAL/METHODS: The C282Y and H63D HFE gene 
      mutations were tested in 96 Caucasian patients who had suffered an acute cerebral 
      infarction, later confirmed as ACI, and 115 control subjects. Genotypes were 
      determined by electrophoresis of the DNA digestion products from RsaI (C282Y) and 
      MboI (H63D). RESULTS: We failed to demonstrate that the C282Y and H63D mutations 
      were risk factors for ACI in Caucasians. The percentage of C282Y and H63D 
      genotypes (dominant model) in ACI-cases (C282Y: 7.3%, n=7; H63D: 28.1%, n=27) did 
      not differ significantly (P=0.9 and P=0.7 respectively) from that of the controls 
      (C282Y: 7.0%, n=8; H63D: 26.1%, n=30). Logistic regression analysis revealed that 
      arterial hypertension, diabetes, and cigarette smoking are independent risk 
      factors for ACI, whereas the C282Y and H63D HFE gene mutations are not. 
      CONCLUSIONS: We provided evidence that the C282Y and H63D HFE gene mutations were 
      not risk factors for ACI in this Slovene population.
FAU - Hruskovicova, Helena
AU  - Hruskovicova H
AD  - Division of Medical Genetics, Department of Obstetrics and Gynaecology, Medical 
      Centre Ljubljana, Slovenia.
FAU - Milanez, Tomaz
AU  - Milanez T
FAU - Kobal, Jan
AU  - Kobal J
FAU - Potisk, Karmen Peterlin
AU  - Potisk KP
FAU - Petrovic, Danijel
AU  - Petrovic D
FAU - Peterlin, Borut
AU  - Peterlin B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050629
PL  - United States
TA  - Med Sci Monit
JT  - Medical science monitor : international medical journal of experimental and 
      clinical research
JID - 9609063
SB  - IM
CIN - Med Sci Monit. 2005 Sep;11(9):LE9. PMID: 16127372
MH  - Aged
MH  - Cerebral Infarction/etiology/*genetics
MH  - Diabetes Complications
MH  - Female
MH  - Hemochromatosis/complications/*genetics
MH  - Humans
MH  - Hypertension/complications
MH  - Intracranial Arteriosclerosis/complications/*genetics
MH  - Intracranial Thrombosis/complications/*genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Risk Factors
MH  - Slovenia
MH  - Smoking/adverse effects
EDAT- 2005/07/02 09:00
MHDA- 2005/08/27 09:00
CRDT- 2005/07/02 09:00
PHST- 2005/01/17 00:00 [received]
PHST- 2005/04/16 00:00 [accepted]
PHST- 2005/07/02 09:00 [pubmed]
PHST- 2005/08/27 09:00 [medline]
PHST- 2005/07/02 09:00 [entrez]
AID - 6915 [pii]
PST - ppublish
SO  - Med Sci Monit. 2005 Jul;11(7):BR248-52. Epub 2005 Jun 29.