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Yan-Yan Xu, Yu-Han Tang, Xiao-Ping Guo, Jing Wang, Ping Yao
Studies examining the association of hemochromatosis (HFE) gene polymorphisms and susceptibility to alcoholic liver disease (ALD) yielded inconsistent results. Thus, we performed a metaanalysis to investigate whether the variations in HFE gene increase the risk of ALD. The studies published up to Feb. 2014 were identified by searching PubMed/MEDLINE, ISI Web of Science, EMBASE and China National Knowledge Infrastructure databases, which was complemented by screening the references of the retrieved studies. For all genotypes and alleles, the odds ratios (ORs) with 95% confidence intervals (CIs) according to the heterogeneity were pooled using fixed-effect model...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
Colin P Farrell, Jessica R Overbey, Hetanshi Naik, Danielle Nance, Gordon D McLaren, Christine E McLaren, Luming Zhou, Robert J Desnick, Charles J Parker, John D Phillips
: Both familial and sporadic porphyria cutanea tarda (PCT) are iron dependent diseases. Symptoms of PCT resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y, c.843G>A, rs1800562) that enhances iron aborption by reducing hepcidin expression is a risk factor for PCT. Recently, a polymorphic variant (D519G, c.1556A>G, rs11558492) of glyceronephosphate O-acyltransferase (GNPAT) was shown to be enriched in male patients with type I hereditary hemochromatosis (HFE C282Y homozygotes) who presented with a high iron phenotype, suggesting that GNPAT D519G, like HFE C282Y, is a modifier of iron homeostasis that favors iron absorption...
2016: PloS One
Sina Gerayli, Alireza Pasdar, Mohammad Taghi Shakeri, Samaneh Sepahi, Seyed Mousalreza Hoseini, Mitra Ahadi, Sina Rostami, Zahra Meshkat
BACKGROUND: Chronic hepatitis C virus (HCV) infection is frequently associated with elevated serum iron markers. Polymorphisms in the hemochromatosis (HFE) genes are responsible for iron accumulation in most cases of hemochromatosis, and may play a role in HCV infection. OBJECTIVES: We aimed to assess the prevalence of HFE gene polymorphisms in a group of Iranian HCV-infected patients, and to explore the association of these polymorphisms with HCV infection. PATIENTS AND METHODS: HFE gene polymorphisms were examined in a total of 69 HCV patients and 69 healthy controls using polymerase chain reaction and restriction fragment length polymorphism techniques...
June 2016: Iranian Red Crescent Medical Journal
Anita H Nadkarni, Aradhana A Singh, Stacy Colaco, Priya Hariharan, Roshan B Colah, Kanjaksha Ghosh
BACKGROUND: Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron absorption.HFE gene mutations C282Y and H63D are responsible for the majority of hereditary hemochromatosis cases. METHODS: We tried to look at the effect of HFE mutations on the iron status. A total of 100 β thalassemia traits (BTT) with 100 normal individuals were screened for the C282Y and H63D mutations using PCR-RFLP. The serum ferritin levels were determined using ELISA kit...
August 26, 2016: Journal of Clinical Laboratory Analysis
Kaczorowska-Hac Barbara, Luszczyk Marcin, Antosiewicz Jedrzej, Ziolkowski Wieslaw, Adamkiewicz-Drozynska Elzbieta, Mysliwiec Malgorzata, Milosz Ewa, Kaczor Jan Jacek
The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. Hereditary hemochromatosis is a heterogenic metabolic syndrome which is due to unchecked transfer of iron into the bloodstream and its toxic effects on parenchymatous organs. It is caused by the mutation of genes that encode proteins that help hepcidin to monitor serum iron. These proteins include the human hemochromatosis protein -HFE, transferrin-receptor 2, hemojuvelin in rare instances, and ferroportin...
August 24, 2016: Annals of Hematology
Leila Saremi, Marzieh Saremi, Shirin Lotfipanah, Saber İmani, Junjiang Fu, Tianyu Zhang
BACKGROUND/AIM: Diabetes mellitus is a risk factor for cardiovascular diseases (CVDs), which are among the major causes of deaths in type 2 diabetes (T2D). The purpose of the present study was to determine the association of C282Y and H63D mutations in the HFE gene with increased risk of coronary artery disease (CAD) in T2D patients. MATERIALS AND METHODS: Two hundred and ninety individuals were divided into two groups: a case group and a control group. Genomic DNA of peripheral venous blood cells was extracted and the HFE gene mutations were analyzed using the PCR-RFLP technique...
2016: Turkish Journal of Medical Sciences
Azza Aboul Enein, Nermine A El Dessouky, Khalda S Mohamed, Shahira K A Botros, Mona F Abd El Gawad, Mona Hamdy, Nehal Dyaa
AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing...
June 15, 2016: Open Access Macedonian Journal of Medical Sciences
S V Mikhailova, V N Babenko, D E Ivanoshchuk, M A Gubina, V N Maksimov, I G Solovjova, M I Voevoda
BACKGROUND: Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis. We assumed that analysis of Caucasoid patients-living now in Western Siberia and having diseases associated with dietary habits and metabolic rate-will allow us to understand the processes of possible selection during settling of the northern part of Asia...
2016: BMC Genetics
Qi Ye, Jonghan Kim
Increased accumulation of manganese (Mn) in the brain is significantly associated with neurobehavioral deficits and impaired brain function. Airborne Mn has a high systemic bioavailability and can be directly taken up into the brain, making it highly neurotoxic. While Mn transport is in part mediated by several iron transporters, the expression of these transporters is altered by the iron regulatory gene, HFE. Mutations in the HFE gene are the major cause of the iron overload disorder, hereditary hemochromatosis, one of the prevalent genetic diseases in humans...
June 1, 2016: Metallomics: Integrated Biometal Science
L N R Alves, E V W Santos, E Stur, A M A Silva Conforti, I D Louro
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20)...
2016: Genetics and Molecular Research: GMR
Richard D Press, Garrett Eickelberg, Thomas J McDonald, Jaimie Halley, Thomas Long, Laura J Tafe, Karen E Weck
PURPOSE: The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants). This study used 10 years of PT data to determine laboratory performance for HFE analytical genotyping and clinical interpretation. METHODS: Laboratories were graded for accuracy of genotype determination (six possible C282Y/H63D genotypes) and clinical interpretation regarding whether the genotype was likely to have contributed to iron overload in a hypothetical patient...
April 28, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin
OBJECTIVE: Hemochromatosis is an autosomal recessive disease which is one of the most important reasons of iron overload. Sickle cell disease is a hemoglobinopathy which occurs as a result of a homozygote mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in treatment of this disease. Iron overload as a result of transfusion is important in mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of HFE gene p...
April 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Marko Lucijanić, Vlatko Pejša, Zdravko Mitrović, Tajana Štoos-Veić, Ana Livun, Ozren Jakšić, Tamara Vasilj, Mario Piršić, Višnja Hariš, Željko Prka, Rajko Kušec
OBJECTIVES: The recent availability of potent oral iron chelators is renewing an interest in the assessment of the possible impact of HFE genetics in MDS. METHODS: Thirty six newly diagnosed patients with MDS were studied for parameters of iron metabolism in addition to C282Y and H63D mutations of the HFE gene. RESULTS: Mutations were present in 11 out of 36 patients (31%), which were not different from our general population and were equally distributed among MDS subtypes...
April 2016: Hematology (Amsterdam, Netherlands)
Gabriela G F van der Schoot, Nico-Derk L Westerink, Sjoukje Lubberts, Janine Nuver, Nynke Zwart, Annemiek M E Walenkamp, Johan B Wempe, Coby Meijer, Jourik A Gietema
BACKGROUND: Bleomycin and cisplatin are of key importance in testicular cancer treatment. Known potential serious adverse effects are bleomycin-induced pulmonary toxicity (BIP) and cisplatin-induced renal toxicity. Iron handling may play a role in development of this toxicity. Carriage of allelic variants of the HFE gene induces altered iron metabolism and may contribute to toxicity. We investigated the association between two common allelic variants of the HFE gene, H63D and C282Y, with development of pulmonary and renal toxicity during and after treatment with bleomycin- and cisplatin-containing chemotherapy...
May 2016: European Journal of Cancer
Yang-Fan Lv, Xian Chang, Rui-Xi Hua, Guang-Ning Yan, Gang Meng, Xiao-Yu Liao, Xi Zhang, Qiao-Nan Guo
To investigate the association between mutation of HFE (the principal pathogenic gene in hereditary haemochromatosis) and risk of cancer, we conducted a meta-analysis of all available case-control or cohort studies relating to two missense mutations, C282Y and H63D mutations. Eligible studies were identified by searching databases including PubMed, Embase and the ISI Web of Knowledge. Overall and subgroup analyses were performed and odds ratios (ORs) combined with 95% confidence intervals (CIs) were applied to evaluate the association between C282Y mutation, H63D mutation and cancer risk...
July 2016: Journal of Cellular and Molecular Medicine
Mohd Talha Noor, Manish Tiwari, Ravindra Kumar
BACKGROUND: Decompensated liver cirrhosis is an important cause of mortality worldwide. Various modifiable and non-modifiable factors are involved in the pathogenesis of cirrhosis and its complications. This study was aimed to evaluate the association of iron overload and disease severity in patients of liver cirrhosis and its association with HFE gene mutation. METHODS: Forty-nine patients with decompensated liver cirrhosis were recruited. Clinical and laboratory parameters were compared in patients with and without iron overload...
January 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Xiaowei W Su, Wint Nandar, Elizabeth B Neely, Zachary Simmons, James R Connor
INTRODUCTION: HMG-CoA reductase inhibitors (statins) and H63D HFE polymorphism may modify amyotrophic lateral sclerosis (ALS). We hypothesized that statins worsen phenotype in ALS mice, dependent on HFE genotype. METHODS: Mice harboring SOD1(G93A) heterozygous for H67D Hfe (homologous to human H63D HFE) were administered simvastatin and/or coenzyme Q10, and were allowed to reach end stage. Disease progression was measured by grip strength. A separate group of animals was administered simvastatin and euthanized at the symptomatic 120-day time-point...
August 2016: Muscle & Nerve
Huang Xiao-Bing, Zheng Lu, Guo Hong, Liang Ping, Li Guanghui, Liu Hongming, Han Keqiang, Li Jing
According to the results of retrieving PubMed/MEDLINE and EMBASE databases, this study summarized distributions of two commonly mutated alleles (C282Y and H63D) and genotypes in HFE gene, and considered odds ratios (ORs) as well as its 95% confidence intervals (95% CIs) as effective variables of the included study itself and after summarizing. In terms of allele, compared with individual carrying wild type (WT) allele, individual carrying C282Y allele was more likely to suffer from liver cancer, with OR and P value of 1...
January 14, 2016: Minerva Medica
Nathan R Jones, Joseph H Ashmore, Sang Y Lee, John P Richie, Philip Lazarus, Joshua E Muscat
BACKGROUND: Polymorphisms in the hemochromatosis (HFE) gene are associated with excessive iron absorption from the diet, and pro-oxidant effects of iron accumulation are thought to be a risk factor for several types of cancer. METHODS: The C282Y (rs1800562) and H63D (rs1799945) polymorphisms were genotyped in 301 oral cancer cases and 437 controls and analyzed in relation to oral cancer risk, and serum iron biomarker levels from a subset of 130 subjects. RESULTS: Individuals with the C282Y allele had lower total iron binding capacity (TIBC) (321...
2015: Cancers
Mark D Meadowcroft, Jianli Wang, Carson J Purnell, Douglas G Peters, Paul J Eslinger, Elizabeth B Neely, David J Gill, Megha Vasavada, Fatima Ali-Rahmani, Qing X Yang, James R Connor
Mutations within the HFE protein gene sequence have been associated with increased risk of developing a number of neurodegenerative disorders. To this effect, an animal model has been created which incorporates the mouse homologue to the human H63D-HFE mutation: the H67D-HFE knock-in mouse. These mice exhibit alterations in iron management proteins, have increased neuronal oxidative stress, and a disruption in cholesterol regulation. However, it remains undetermined how these differences translate to human H63D carriers in regards to white matter (WM) integrity...
December 11, 2015: Brain Imaging and Behavior
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