HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease

Hajnalka Andrikovics, Nora Meggyesi, Aniko Szilvasi, Julia Tamaska, Gabriella Halm, Sandor Lueff, Sarolta Nahajevszky, Miklos Egyed, Judit Varkonyi, Gabor Mikala, Andrea Sipos, Laszlo Kalasz, Tamas Masszi, Attila Tordai

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7 Citations (Scopus)


Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies. Few reports addressed this issue with relation to chronic myeloproliferative disorders (CMPD). The aims ofour study were (a) to examine the potential associations of CMPD development with genetic modifiers of iron metabolism in a large cohort of CMPD patients; (b) to examine associations of genetic variants ofproteins involved in iron metabolism; and acquired JAK2 V617F mutation with clinical characteristics of CMPD. HFE C282Y was genotyped in 328 CMPD patients and 996 blood donors as controls, HFE H63D, and TFR S142G were tested in CMPD patients and 171 first time blood donors. JAK2 V617F mutation was tested in CMPD patients and in 122 repeated blood donors. Decreased C282Y allele frequency (allele frequency ± 95% confidence interval) was found in the CMPD group (1.8% ± 1.0%) compared with controls (3.4% F 0.8%; P = 0.048). TFR S142G allele frequency was reduced among V617F-negative CMPD patients (34.8% ±7.6%) compared with controls (47.8% ± 5.4%; P = 0.02). The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group. At presentation, elevated hemoglobin levels were found in V617F-positive patients compared with V617F-negative counterparts (P < 0.000). Vascular complications (26.6% versus 15.2%; P = 0.039) as well as female gender (57.4% versus 41.8%; P = 0.019) were more common in V617F-positive patients. We found that HFE C282Y might be associated with a protective role against CMPD. Because chronic iron deficiency or latent anemia may trigger disease susceptibility for CMPD, HFE C282Y positivity may be a genetic factor influencing this effect.

Original languageEnglish
Pages (from-to)929-934
Number of pages6
JournalCancer Epidemiology Biomarkers and Prevention
Issue number3
Publication statusPublished - Mar 2009

ASJC Scopus subject areas

  • Epidemiology
  • Oncology

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