Literature DB >> 12584430

Interaction of the H63D mutation in the hemochromatosis gene with the apolipoprotein E epsilon 4 allele modulates age at onset of Alzheimer's disease.

Onofre Combarros1, Marisa García-Román, Ana Fontalba, José L Fernández-Luna, Javier Llorca, Jon Infante, José Berciano.   

Abstract

The H63D mutation in the hemochromatosis gene (HFE) has recently been considered as a risk factor in Alzheimer's disease (AD) with advancing age at onset of the disease, independently of the apolipoprotein E (ApoE) epsilon4 allele effect. We examined the distribution of the H63D mutation and ApoE genotypes as a function of age at AD onset in 328 patients with sporadic AD. Our data show that the mutant H63D allele potentially interacts with the ApoE epsilon4 allele to significantly reduce age at onset of AD compared to ApoE epsilon4 carriers alone, but has no effect on age at onset in ApoE epsilon4 non-carriers. Copyright 2003 S. Karger AG, Basel

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Year:  2003        PMID: 12584430     DOI: 10.1159/000068480

Source DB:  PubMed          Journal:  Dement Geriatr Cogn Disord        ISSN: 1420-8008            Impact factor:   2.959


  14 in total

1.  Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.

Authors:  F Ali-Rahmani; J A Hengst; J R Connor; C-L Schengrund
Journal:  Neurochem Res       Date:  2011-01-18       Impact factor: 3.996

2.  Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.

Authors:  K J H Robson; D J Lehmann; V L C Wimhurst; K J Livesey; M Combrinck; A T Merryweather-Clarke; D R Warden; A D Smith
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

3.  Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases.

Authors:  S Mariani; M Ventriglia; I Simonelli; G Spalletta; S Bucossi; M Siotto; F Assogna; J M Melgari; F Vernieri; R Squitti
Journal:  Front Aging Neurosci       Date:  2013-08-05       Impact factor: 5.750

4.  Changes in iron-regulatory proteins in the aged rodent neural retina.

Authors:  Huiyi Chen; Bin Liu; Thomas J Lukas; Genn Suyeoka; Grace Wu; Arthur H Neufeld
Journal:  Neurobiol Aging       Date:  2008-03-04       Impact factor: 4.673

5.  Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older men.

Authors:  George Bartzokis; Po H Lu; Todd A Tishler; Douglas G Peters; Anastasia Kosenko; Katherine A Barrall; J Paul Finn; Pablo Villablanca; Gerhard Laub; Lori L Altshuler; Daniel H Geschwind; Jim Mintz; Elizabeth Neely; James R Connor
Journal:  J Alzheimers Dis       Date:  2010       Impact factor: 4.472

Review 6.  Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples.

Authors:  Douglas B Kell
Journal:  Arch Toxicol       Date:  2010-08-17       Impact factor: 5.153

7.  Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort.

Authors:  Janice L Atkins; Luke C Pilling; Christine J Heales; Sharon Savage; Chia-Ling Kuo; George A Kuchel; David C Steffens; David Melzer
Journal:  J Alzheimers Dis       Date:  2021       Impact factor: 4.472

8.  Variation at APOE and STH loci and Alzheimer's disease.

Authors:  Lingjun Zuo; Christopher H van Dyck; Xingguang Luo; Henry R Kranzler; Bao-zhu Yang; Joel Gelernter
Journal:  Behav Brain Funct       Date:  2006-04-07       Impact factor: 3.759

9.  Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

Authors:  Rita J Guerreiro; Jose M Bras; Isabel Santana; Cristina Januario; Beatriz Santiago; Ana S Morgadinho; Maria H Ribeiro; John Hardy; Andrew Singleton; Catarina Oliveira
Journal:  BMC Neurol       Date:  2006-07-06       Impact factor: 2.474

Review 10.  Bridging the gap between statistical and biological epistasis in Alzheimer's disease.

Authors:  Mark T W Ebbert; Perry G Ridge; John S K Kauwe
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

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