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Veronica Tisato, Giovanni Zuliani, Marco Vigliano, Giovanna Longo, Eugenia Franchini, Paola Secchiero, Giorgio Zauli, Elvezia Maria Paraboschi, Ajay Vikram Singh, Maria Luisa Serino, Beatrice Ortolani, Amedeo Zurlo, Cristina Bosi, Antonio Greco, Davide Seripa, Rosanna Asselta, Donato Gemmati
Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086)...
2018: PloS One
Mohammad Soleiman Soltanpour, Kambiz Davari
Objectives: Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM) compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels. Methods: We studied 60 patients with BTM with a mean age of 17...
January 2018: Oman Medical Journal
Nuria Aranda, Cristina Bedmar, Victoria Arija, Cristina Jardí, Rosa Jimenez-Feijoo, Natalia Ferré, Monica Tous
The aims of this study were to describe hepcidin levels and to assess their associations with iron status and the main variants in the HFE gene in healthy and full-term newborns during the first year of life, as a longitudinal study conducted on 140 infants. Anthropometric and biochemical parameters, hepcidin, hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), mean corpuscular volume (MCV), and C-reactive protein (CRP), were assessed in 6- and 12-month-olds. Infants were genotyped for the three main HFE variants: C282Y, H63D, and S65C...
February 5, 2018: Annals of Hematology
Sergio A Sánchez-Luna, Kyle E Brown
Hereditary hemochromatosis (HH) can cause cirrhosis and hepatocellular carcinoma (HCC), but the frequency of these complications is controversial. To address this question, we reviewed the experience with HH at an academic medical center that is the sole liver transplantation center in a state with a population that is >90% Caucasian. The records of all subjects with International Classification of Diseases, Ninth Revision, code 275, "disorders of iron metabolism" seen at the University of Iowa Hospitals and Clinics between January 1, 2004 and December 31, 2014 were reviewed, and HFE C282Y homozygotes and C282Y/H63D compound heterozygotes were identified...
July 2017: Hepatology Communications
Anne M Nixon, Elizabeth Neely, Ian A Simpson, James R Connor
BACKGROUND: Iron regulation is essential for cellular energy production. Loss of cellular iron homeostasis has critical implications for both normal function and disease progression. The H63D variant of the HFE gene is the most common gene variant in Caucasians. The resulting mutant protein alters cellular iron homeostasis and is associated with a number of neurological diseases and cancer. In the brain, microglial and infiltrating macrophages are critical to maintaining iron homeostasis and modulating inflammation associated with the pathogenic process in multiple diseases...
February 1, 2018: Journal of Neuroinflammation
Anne M Nixon, Mark D Meadowcroft, Elizabeth B Neely, Amanda M Snyder, Carson J Purnell, Justin Wright, Regina Lamendella, Wint Nandar, Xuemei Huang, James R Connor
Parkinson's disease (PD) is marked clinically by motor dysfunction and pathologically by dopaminergic cell loss in the substantia nigra (SN) and iron accumulation in the substantia nigra. The driver underlying iron accumulation is unknown and could be genetic or environmental. The HFE protein is critical for the regulation of cellular iron uptake. Mutations within this protein are associated with increased iron accumulation including in the brain. We have focused on the commonly occurring H63D variant of the HFE gene as a disease modifier in a number of neurodegenerative diseases...
January 8, 2018: Journal of Neurochemistry
Ana L Felipoff, Silvana J Fleischman, M Luján Donadío, Vanesa Sebastiano, Marcelo Castro, Alejandra Vellicce, Jorge A Rey, Marta M Lardo, Silvia H Langini
Excess iron (Fe) intake in subjects carrying certain mutations in the HFE gene may result in Fe overload. To estimate risk of Fe overload, 166 male blood donors (19-65 years) from Buenos Aires city were investigated. Daily Fe intake (FeI), hem Fe intake, and Fe intake from SO4Fe enriched flours were estimated (SARA Computer Program and Food Composition Table, USDA). Serum ferritin and transferrin saturation were determined; criteria for Fe overload was serum ferritin > 300 ng/ml and transferrin saturation = 50%...
2017: Medicina
Jesper Hagemeier, Murali Ramanathan, Ferdinand Schweser, Michael G Dwyer, Fuchun Lin, Niels Bergsland, Bianca Weinstock-Guttman, Robert Zivadinov
Brain iron homeostasis is known to be disturbed in multiple sclerosis (MS), yet little is known about the association of common gene variants linked to iron regulation and pathological tissue changes in the brain. In this study, we investigated the association of genetic determinants linked to iron regulation with deep gray matter (GM) magnetic susceptibility in both healthy controls (HC) and MS patients. Four hundred (400) patients with MS and 150 age- and sex-matched HCs were enrolled and obtained 3 T MRI examination...
2018: NeuroImage: Clinical
Luigia De Falco, Raffaella Tortora, Nicola Imperatore, Mariasole Bruno, Mario Capasso, Domenico Girelli, Annalisa Castagna, Nicola Caporaso, Achille Iolascon, Antonio Rispo
We investigated the role of HFE C282Y, H63D, and TMPRSS6 A736V variants in the pathogenesis of iron deficiency anemia (IDA) in celiac disease (CD) patients, at diagnosis and after 1 year of gluten-free diet (GFD). Demographic and clinical features were prospectively recorded for all CD patients between 2013 and 2017. C282Y, H63D, and A736V variants were evaluated for CD patients and controls. Finally, 505 consecutive CD patients and 539 age-matched control subjects were enrolled. At diagnosis, 229 CD subjects had IDA (45...
March 2018: American Journal of Hematology
Karina Meidtner, Clara Podmore, Janine Kröger, Yvonne T van der Schouw, Benedetta Bendinelli, Claudia Agnoli, Larraitz Arriola, Aurelio Barricarte, Heiner Boeing, Amanda J Cross, Courtney Dow, Kim Ekblom, Guy Fagherazzi, Paul W Franks, Marc J Gunter, José María Huerta, Paula Jakszyn, Mazda Jenab, Verena A Katzke, Timothy J Key, Kay Tee Khaw, Tilman Kühn, Cecilie Kyrø, Francesca Romana Mancini, Olle Melander, Peter M Nilsson, Kim Overvad, Domenico Palli, Salvatore Panico, J Ramón Quirós, Miguel Rodríguez-Barranco, Carlotta Sacerdote, Ivonne Sluijs, Magdalena Stepien, Anne Tjonneland, Rosario Tumino, Nita G Forouhi, Stephen J Sharp, Claudia Langenberg, Matthias B Schulze, Elio Riboli, Nicholas J Wareham
OBJECTIVE: Meat intake has been consistently shown to be positively associated with incident type 2 diabetes. Part of that association may be mediated by body iron status, which is influenced by genetic factors. We aimed to test for interactions of genetic and dietary factors influencing body iron status in relation to the risk of incident type 2 diabetes. RESEARCH DESIGN AND METHODS: The case-cohort comprised 9,347 case subjects and 12,301 subcohort participants from eight European countries...
February 2018: Diabetes Care
Suad AlFadhli, Matra Salem, D K Shome, Najat Mahdi, Rasheeba Nizam
In this study, the potential effect of three HFE gene polymorphisms (C282Y, H63D and S65C) and the SLC40A1 A77D polymorphism on iron balance was investigated in 234 subjects (91 Arab beta-thalassemia major (BTM) patients, 34 beta-thalassemia trait (BTT) individuals and 109 health controls). Genotyping was done using restriction-fragment-length polymorphism and direct-sequencing. Serum-iron, total iron binding capacity, transferrin and ferritin were estimated in all BTT and BTM, and in 65 healthy controls. H63D was the only polymorphism detected in our cohort...
December 2017: Indian Journal of Hematology & Blood Transfusion
El Aoud Sahar, Arwa Kamoun, Nadia Mahfoudh, Aida Charfi, Mouna Snoussi, Hend Hachicha, Ameni Jerbi, Chifa Dammak, Faten Frikha, Faiza Hakim, Lilia Gaddour, Zouhair Bahloul, Hafedh Makni
<br>To establish HLA class I and HFE mutation associations with recurrent aphthous oral ulcers (RAOU) and Behçet disease (BD) in a cohort of Southern Tunisian patients.<br> Materials (Subjects) and Methods<br>A total of 232 patients with RAOU and 123 healthy controls (HC) were enrolled in our study. Patients were divided into 2 groups based on the presence (BD+: 62) or not (BD-: 170). In the BD+ group, 28 patients had a severe form. In the (BD-) group, RAOU was isolated in 81 patients, associated with mucocutaneous manifestations in 58 patients and with joint symptoms in 25 patients...
September 26, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
James C Barton, J Clayborn Barton, Paul C Adams
BACKGROUND: 373 black participants had elevated screening and post-screening serum ferritin (SF) (> 300 μg/L men; > 200 μg/L women). MATERIAL AND METHODS: We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly; splenomegaly; diabetes; HFE H63D positivity; iron/alcohol intakes; and blood/erythrocyte transfusion units...
September 2017: Annals of Hepatology
Mark D Meadowcroft, Jianli Wang, Carson J Purnell, Paul J Eslinger, Elizabeth B Neely, Qing X Yang, James R Connor
BACKGROUND AND PURPOSE: The H63D-HFE single nucleotide polymorphism (SNP) has been associated with brain iron dysregulation; however, the emergent role of this missense variant in brain structure and function has yet to be determined. Previous work has demonstrated that HFE SNP carriers have reduced white matter magnetic resonance imaging (MRI) proton relaxation rates. The mechanism by which white matter alterations perturb MRI relaxation is unknown as is how these metrics are related to myelin integrity...
August 3, 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
W N Campos, J D Massaro, A L C Martinelli, J A Halliwell, S G E Marsh, C T Mendes-Junior, E A Donadi
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (-44) T>C in intron 4, and (6) a new guanine deletion (G>del) in intron 5, which were used for haplotype inference...
July 20, 2017: HLA
Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh
BACKGROUND: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. METHODS: We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease...
2017: PloS One
Barbara Kaczorowska-Hac, Marcin Luszczyk, Jedrzej Antosiewicz, Wieslaw Ziolkowski, Elzbieta Adamkiewicz-Drozynska, Malgorzata Mysliwiec, Ewa Milosz, Jan J Kaczor
Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status...
July 2017: Journal of Pediatric Hematology/oncology
Sang Y Lee, Junjia Zhu, Anna C Salzberg, Bo Zhang, Dajiang J Liu, Joshua E Muscat, Sara T Langan, James R Connor
Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA) GBM (Caucasian only) database...
2017: PloS One
Farida H El-Rashedi, Mahmoud A El-Hawy, Sally M El-Hefnawy, Mona M Mohammed
BACKGROUND: Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile. PATIENTS AND METHODS: This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals...
August 2017: Hematology (Amsterdam, Netherlands)
Seppo T Nikkari, Anni-Laura Visto, Kirsi M Määttä, Tarja A Kunnas
It is known that iron overload may lead to an increased risk for many diseases. According to GWAS studies, iron regulatory protein HFE gene variant H63D (rs1799945) was associated with hypertension, an observation which we were able to confirm also in our TAMRISK cohort. Thus, it is possible that abnormalities in iron homeostasis may predispose to hypertension. This prompted us to study whether there is an association between hypertension and another iron overload-associated gene, hemojuvelin (HJV), which has 2 common polymorphic sites (rs 16827043, rs7536827)...
February 2017: Medicine (Baltimore)
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