Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians
| Autor: | Hélène Coppin, Hélène Blanche, Marie-Paule Roth, N. Borot, Séverine Fruchon, Mounia Bensaid |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Heterozygote Longevity Biology Loss of heterozygosity Genotype medicine Humans Letters Hemochromatosis Protein Hemochromatosis Aged General Environmental Science Aged 80 and over Genetics medicine.diagnostic_test Transferrin saturation Histocompatibility Antigens Class I Homozygote General Engineering Case-control study Membrane Proteins Heterozygote advantage General Medicine medicine.disease Case-Control Studies Mutation Papers Immunology Mutation (genetic algorithm) Serum iron General Earth and Planetary Sciences Female France |
| Zdroj: | BMJ. 327:132-133 |
| ISSN: | 1468-5833 0959-8138 |
| DOI: | 10.1136/bmj.327.7407.132 |
| Popis: | Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is frequent in northern Europe, where one in five to ten people are carriers. People who are heterozygous for the C282Y mutation have slightly but significantly higher values for serum iron and transferrin saturation and are less likely to have anaemia because of iron deficiency.1 2 Iron promotes the generation of free radicals, which leads to mutagenesis, atherosclerosis, inflammation, and bacterial growth. Therefore, genotypes that increase the concentrations of iron for transport and storage may be associated with an increased risk for common diseases, such as cancers and cardiovascular diseases, and for inflammatory and infectious conditions. Other studies, which investigated the associations of C282Y heterozygosity with morbidity, found conflicting … |
| Databáze: | OpenAIRE |
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