Mutations inHFECausing Hemochromatosis Are Associated with Primary Hypertriglyceridemia
| العنوان: | Mutations inHFECausing Hemochromatosis Are Associated with Primary Hypertriglyceridemia |
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| المؤلفون: | Ana Cenarro, Estíbaliz Jarauta, Ana M. Bea, Fernando Civeira, Pilar Calmarza, Rocio Mateo-Gallego, María Solanas-Barca |
| المصدر: | The Journal of Clinical Endocrinology & Metabolism. 94:4391-4397 |
| بيانات النشر: | The Endocrine Society, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Adult, Male, Heterozygote, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Familial hypercholesterolemia, Biochemistry, Body Mass Index, Endocrinology, Reference Values, Diabetes mellitus, Internal medicine, Prevalence, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Hemochromatosis Protein, Hemochromatosis, Hypolipidemic Agents, Hypertriglyceridemia, business.industry, Cholesterol, HDL, Histocompatibility Antigens Class I, Biochemistry (medical), Membrane Proteins, Middle Aged, medicine.disease, Hereditary hemochromatosis, Female, Metabolic syndrome, business |
| الوصف: | Most cases of primary hypertriglyceridemia (HTG) are caused by the interaction of unknown polygenes and environmental factors. Elevated iron storage is associated with metabolic syndrome, diabetes, and obesity, and all of them are associated with HTG.The aim of the study was to analyze whether HFE mutations causing hereditary hemochromatosis (HH) are associated with primary HTG.Genetic predisposition to HH was analyzed in a case-control study.The study was conducted at University Hospital Lipid Clinic.We studied two groups: 1) the HTG group, composed of 208 patients; and 2) the control group, composed of 215 normolipemic subjects and 161 familial hypercholesterolemia patients.Two HFE mutations (C282Y and H63D) were analyzed.We measured HH genetic predisposition difference between groups.HH genetic predisposition was 5.9 and 4.4 times higher in the HTG group than in the normolipemic (P = 0.02) and FH (P = 0.05) subjects, respectively. There were 35 cases (16.8%) of iron overload in the primary HTG group, 14 (6.5%) and nine (5.6%) in the normolipidemic and FH groups, respectively. A higher HH genetic predisposition and a different prevalence of iron overload in subjects with HH genetic predisposition among groups contributed to this higher prevalence. None of the four cases with the HFE genotype associated with high risk of HH in the control groups presented iron overload; however, in eight of 11 subjects (72.7%) with primary HTG and HH genetic predisposition, the iron overload was present.Mutations in HFE gene, favoring iron overload and causing HH, could play an important role in the development of several phenotypes of primary HTG. |
| تدمد: | 1945-7197 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bab14bf3b96c262d3b054e605db78ffTest https://doi.org/10.1210/jc.2009-0814Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4bab14bf3b96c262d3b054e605db78ff |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
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