title: Haemochromatosis gene (HFE) mutations in viral-associated neoplasia: Linkage to cervical cancer.
abstract: The present study examines the frequency of the two main HFE mutations (C282Y and H63D) in a randomly selected population of 346 individuals including 201 DNA samples from women with cervical neoplasia (including high-grade squamous intraepithelial lesions and invasive squamous cell carcinoma) and a control population of 146 women from the same geographical area. We found a significantly lower risk of development of cervical neoplasia in H63D carriers (OR = 0.56; 95% CI 0.35-0.92; p = 0.01). Multivariate logistic regression analysis confirms this observation (OR = 0.55; 95% CI 0.35-0.88, p = 0.01). Regarding the C282Y mutation no association was found (OR = 1.32; 95% CI 0.53-3.33; p = 0.52). In addition, a significant difference between H63D carrier and non-carrier women on the time-to-onset of cervical lesions was observed (log-rank test: p = 0.0012). These results indicate that HFE could be considered a candidate modifier gene of viral-related neoplasia such as cervical carcinoma possibly by a dual role on iron metabolism and immunological system.
authors.affiliation: Institute for Molecular and Cell Biology (IBMC), Iron Genes and Immune System (IRIS), Porto, Portugal.
authors.forename: Carla S
authors.initials: CS
authors.lastname: Cardoso
authors.forename: Hélder C
authors.initials: HC
authors.lastname: Araújo
authors.forename: Eugénia
authors.initials: E
authors.lastname: Cruz
authors.forename: Ana
authors.initials: A
authors.lastname: Afonso
authors.forename: Cláudia
authors.initials: C
authors.lastname: Mascarenhas
authors.forename: Susana
authors.initials: S
authors.lastname: Almeida
authors.forename: José
authors.initials: J
authors.lastname: Moutinho
authors.forename: Carlos
authors.initials: C
authors.lastname: Lopes
authors.forename: Rui
authors.initials: R
authors.lastname: Medeiros
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002874:Chromosome Mapping; D015897:Comorbidity; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D015994:Incidence; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D030361:Papillomavirus Infections / Q000453:epidemiology* / Q000235:genetics*; D011174:Portugal / Q000453:epidemiology; D018570:Risk Assessment / Q000379:methods; D002583:Uterine Cervical Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D002578:Uterine Cervical Dysplasia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins